Zobrazeno 1 - 10
of 14
pro vyhledávání: '"de Diego, Rp"'
Autor:
Matuozzo, D, Talouarn, E, Marchal, A, Zhang, P, Manry, J, Seeleuthner, Y, Zhang, Y, Bolze, A, Chaldebas, M, Milisavljevic, B, Gervais, A, Bastard, P, Asano, T, Bizien, L, Barzaghi, F, Abolhassani, H, Abou Tayoun, A, Aiuti, A, Alavi Darazam, I, Allende, Lm, Alonso-Arias, R, Arias, Aa, Aytekin, G, Bergman, P, Bondesan, S, Bryceson, Yt, Bustos, Ig, Cabrera-Marante, O, Carcel, S, Carrera, P, Casari, G, Chaïbi, K, Colobran, R, Condino-Neto, A, Covill, Le, Delmonte, Om, El Zein, L, Flores, C, Gregersen, Pk, Gut, M, Haerynck, F, Halwani, R, Hancerli, S, Hammarström, L, Hatipoğlu, N, Karbuz, A, Keles, S, Kyheng, C, Leon-Lopez, R, Franco, Jl, Mansouri, D, Martinez-Picado, J, Metin Akcan, O, Migeotte, I, Morange, P, Morelle, G, Martin-Nalda, A, Novelli, G, Novelli, A, Ozcelik, T, Palabiyik, F, Pan-Hammarström, Q, de Diego, Rp, Planas-Serra, L, Pleguezuelo, De, Prando, C, Pujol, A, Reyes, Lf, Rivière, Jg, Rodriguez-Gallego, C, Rojas, J, Rovere-Querini, P, Schlüter, A, Shahrooei, M, Sobh, A, Soler-Palacin, P, Tandjaoui-Lambiotte, Y, Tipu, I, Tresoldi, C, Troya, J, van de Beek, D, Zatz, M, Zawadzki, P, Al-Muhsen, Sz, Alosaimi, Mf, Alsohime, Fm, Baris-Feldman, H, Butte, Mj, Constantinescu, Sn, Cooper, Ma, Dalgard, Cl, Fellay, J, Heath, Jr, Lau, Y, Lifton, Rp, Maniatis, T, Mogensen, Th, von Bernuth, H, Lermine, A, Vidaud, M, Boland, A, Deleuze, J, Nussbaum, R, Kahn-Kirby, A, Mentre, F, Tubiana, S, Gorochov, G, Tubach, F, Hausfater, P, Meyts, I, Zhang, S, Puel, A, Notarangelo, Ld, Boisson-Dupuis, S, Helen C, S, Boisson, B, Jouanguy, E, Casanova, J, Zhang, Q, Abel, L, Cobat, A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3667::ba3a452488014aee95b3aabc0ddbbf61
https://hdl.handle.net/2108/321965
https://hdl.handle.net/2108/321965
Autor:
García-García A, Buendia Arellano M, Deyà-Martinez A, Lozano Blasco J, Serrano M, Van Den Rym A, García-Solis B, Esteve-Sole A, Yiyi L, Vlagea A, Solanich X, Fisher MR, Lyons JJ, de Diego RP, Alsina L
Publikováno v:
PEDIATRIC ALLERGY AND IMMUNOLOGY
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
BACKGROUND: Phosphoglucomutase-3 (PGM3) deficiency is a congenital disorder of glycosylation (CDG) with hyperimmunoglobulin IgE, atopy, and a variable immunological phenotype; most reported patients display dysmorphic features. The aim of the study w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1bdf9135ba1186ea97b21dd5382201bb
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19035
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=19035
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Palacios-Ortega M; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Unit of Immunodeficiencies, Madrid, Spain., Guerra-Galán T; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Unit of Immunodeficiencies, Madrid, Spain., Jiménez-Huete A; Department of Neurology, Clínica Universidad de Navarra, Madrid, Spain., García-Aznar JM; Department of Immunology, Health in Code, A Coruña, Spain., Pérez-Guzmán M; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain., Mansilla-Ruiz MD; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Interdepartmental Unit of Immunodeficiencies, Madrid, Spain., Mendiola ÁV; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Interdepartmental Unit of Immunodeficiencies, Madrid, Spain., López CP; Department of Immunology, Health in Code, A Coruña, Spain., Hornero EM; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Unit of Immunodeficiencies, Madrid, Spain., Rodriguez AP; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Unit of Immunodeficiencies, Madrid, Spain., Cortijo AP; Department of Hematology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain., Polo Zarzuela M; Department of Hematology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain., Morales MM; Department of Hematology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain., Mandly EA; Department of Hematology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain., Cárdenas MC; Department of Biochemistry, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain., Carrero A; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain., García CJ; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain., Bolaños E; Department of Hematology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain., Íñigo B; Department of Hematology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain., Medina F; Department of Hematology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain., de la Fuente E; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Unit of Immunodeficiencies, Madrid, Spain., Ochoa-Grullón J; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Interdepartmental Unit of Immunodeficiencies, Madrid, Spain., García-Solís B; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Unit of Immunodeficiencies, Madrid, Spain.; Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, 28046, Spain., García-Carmona Y; Division of Clinical Immunolgy, Mount Sinai Medical Center, New York, NY, USA., Fernández-Arquero M; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Unit of Immunodeficiencies, Madrid, Spain., Benavente-Cuesta C; Department of Hematology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain., de Diego RP; Interdepartmental Unit of Immunodeficiencies, Madrid, Spain.; Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, 28046, Spain., Rider N; Division of Clinical Informatics, Pediatrics, Allergy and Immunology, Liberty University College of Osteopathic Medicine and Collaborative Health Partners, Lynchburg, Va, USA., Sánchez-Ramón S; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain. ssramon@salud.madrid.org.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain. ssramon@salud.madrid.org.; Interdepartmental Unit of Immunodeficiencies, Madrid, Spain. ssramon@salud.madrid.org.; Department of Clinical Immunology, Laboratory Medicine Institute Hospital Clínico San Carlos and IdISSC, Calle Profesor Martín Lagos SN, Madrid, 28040, Spain. ssramon@salud.madrid.org.
Publikováno v:
Journal of clinical immunology [J Clin Immunol] 2024 Oct 23; Vol. 45 (1), pp. 32. Date of Electronic Publication: 2024 Oct 23.
Autor:
Guerra-Galán T; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Group of Immunodeficiencies, Madrid, Spain., Palacios-Ortega M; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Group of Immunodeficiencies, Madrid, Spain., Jiménez-Huete A; Department of Neurology, Clínica Universidad de Navarra, Madrid, Spain., Guevara-Hoyer K; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Group of Immunodeficiencies, Madrid, Spain., Cárdenas MC; Department of Biochemistry, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain., Villegas-Mendiola Á; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Group of Immunodeficiencies, Madrid, Spain., Mansilla-Ruíz MD; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Group of Immunodeficiencies, Madrid, Spain., Subhi-Issa N; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Group of Immunodeficiencies, Madrid, Spain., de la Fuente-Munoz E; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Group of Immunodeficiencies, Madrid, Spain., Requejo PM; Departmen of Clinical Immunology, Hospital Universitario Donostia, País Vasco, Donostia, Spain., de la Peña AR; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Group of Immunodeficiencies, Madrid, Spain., Guzmán-Fulgencio M; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Group of Immunodeficiencies, Madrid, Spain., Fernández-Arquero M; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain.; Interdepartmental Group of Immunodeficiencies, Madrid, Spain., de Diego RP; Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, 28046, Spain.; Innate Immunity Group, IdiPAZ Institute for Health Research, La Paz University Hospital, Madrid, Spain., Sánchez-Ramón S; Department of Clinical Immunology, Institute of Laboratory Medicine and IdISSC, Hospital Clínico San Carlos, Madrid, Spain. ssramon@salud.madrid.org.; Department of Immunology, Ophthalmology and ENT, School of Medicine, Complutense University, Madrid, Spain. ssramon@salud.madrid.org.; Interdepartmental Group of Immunodeficiencies, Madrid, Spain. ssramon@salud.madrid.org.; Department of Clinical Immunology, Laboratory Medicine Institute Hospital Clinico San Carlos and IdISSC, Calle Profesor Martín Lagos SN, Madrid, 28040, Spain. ssramon@salud.madrid.org.
Publikováno v:
Journal of clinical immunology [J Clin Immunol] 2024 Jun 07; Vol. 44 (6), pp. 143. Date of Electronic Publication: 2024 Jun 07.
Autor:
Matuozzo D; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Talouarn E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Marchal A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Manry J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Zhang Y; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, MD, USA., Bolze A; Helix, San Mateo, CA, USA., Chaldebas M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Milisavljevic B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Asano T; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Bizien L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Barzaghi F; Department of Paediatric Immunohematology, IRCCS San Raffaele Scientific Institute, Milan, Italy., Abolhassani H; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, Iran., Tayoun AA; Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Aiuti A; San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCSS San Raffaele Scientific Institute, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy., Darazam IA; Infectious Diseases and Tropical Medicine Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Department of Infectious Diseases and Tropical Medicine, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Allende LM; Immunology Department, University Hospital 12 de Octubre, Research Institute imas12 and Complutense University, Madrid, Spain., Alonso-Arias R; Immunology Department, Hospital Universitario Central de Asturias, Oviedo, Spain., Arias AA; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Microbiology and Parasitology, Primary Immunodeficiencies Group, School of Medicine, University of Antioquia UdeA, 050010, Medellin, Colombia.; School of Microbiology, University of Antioquia UdeA, 050010, Medellin, Colombia., Aytekin G; Deparment of Internal Medicine, Division of Allergy and Immunology, Konya City Hospital, Konya, Turkey., Bergman P; Department of Infectious Diseases, The Immunodeficiency Unit, Karolinska University Hospital, Stockholm, Sweden.; Department of Laboratory Medicine, Division of Clinical Immunology, Stockholm, Sweden., Bondesan S; Clinical Genomics, IRCSS San Raffaele Scientific Institute, Milan, Italy., Bryceson YT; Department of Medicine, Centre for Hematology and Regenerative Medicine, Karolinska Institute, Stockholm, Sweden., Bustos IG; Universidad de La Sabana, Chía, Colombia., Cabrera-Marante O; Institute of Biomedical Research of IdiPAZ, University Hospital 'La Paz', Madrid, Spain., Carcel S; Unidad de Gestión Clínica de Cuidados Intensivos, Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Hospital Universitario Reina Sofía, Universidad de Córdoba (UCO), Córdoba, Spain., Carrera P; Clinical Genomics, IRCSS San Raffaele Scientific Institute, Milan, Italy., Casari G; Division of Genetics and Cell Biology, Genome-Phenome Relationship, San Raffaele Hospital, Milan, Italy.; School of Medicine, Vita-Salute San Raffaele University, Milan, Italy., Chaïbi K; Anesthesiology and Critical Care Medicine Department, Avicenne Hospital, Assistance Publique-Hôpitaux de Paris, Bobigny, France.; Common and Rare Kidney Diseases, Sorbonne University, INSERM UMR-S 1155, Paris, France., Colobran R; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Genetics Department, Immunology Division, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain., Condino-Neto A; Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil., Covill LE; Department of Medicine, Centre for Hematology and Regenerative Medicine, Karolinska Institute, Stockholm, Sweden., Delmonte OM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, MD, USA., Zein LE; Biology Department, Lebanese University, Beirut, Lebanon., Flores C; Genomics Division, Institute of Technology and Renewable Energies (ITER), Santa Cruz de Tenerife, Spain.; CIBER de Enfermedades Respiratorias, Carlos III Health Institute, Madrid, Spain.; Research Unit, University Hospital of Ntra. Sra. de Candelaria, Santa Cruz de Tenerife, Spain.; Faculty of Health Sciences, University of Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain., Gregersen PK; Feinstein Institute for Medical Research, Northwell Health USA, Manhasset, NY, USA., Gut M; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Haerynck F; Department of Internal Diseases and Pediatrics, Primary Immune Deficiency Research Laboratory, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent, Belgium., Halwani R; Sharjah Institute for Medical Research, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates., Hancerli S; Department of Pediatrics (Infectious Diseases), Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Hammarström L; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden., Hatipoğlu N; Pediatric Infectious Diseases Unit, Bakirkoy Dr Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Karbuz A; Department of Pediatric Infectious Disease, Dr. Cemil Tascioglu City Hospital, Istanbul, Turkey., Keles S; Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Necmettin Erbakan University, Konya, Turkey., Kyheng C; Department of General Paediatrics, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, University of Paris Saclay, Le Kremlin-Bicêtre, France., Leon-Lopez R; Unidad de Gestión Clínica de Cuidados Intensivos, Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Hospital Universitario Reina Sofía, Universidad de Córdoba (UCO), Córdoba, Spain., Franco JL; Primary Immunodeficiencies Group, School of Microbiology, University of Antioquia UdeA, Medellin, Colombia., Mansouri D; The Clinical Tuberculosis and Epidemiology Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Department of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Martinez-Picado J; IrsiCaixa AIDS Research Institute and Institute for Health Science Research Germans Trias I Pujol (IGTP), Badalona, Spain.; Institute for Health Science Research Germans Trias I Pujol (IGTP), Badalona, Spain.; Department of Infectious Diseases and Immunity, University of Vic-Central University of Catalonia, Vic, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.; Consorcio Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, Madrid, Spain., Akcan OM; Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Necmettin Erbakan University, Konya, Turkey., Migeotte I; Centre de Génétique Humaine de L'Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium., Morange PE; Laboratory of Haematology, La Timone Hospital, Marseille, France.; C2VN, INSERM, INRAE, Aix-Marseille University, Marseille, France., Morelle G; Department of General Paediatrics, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, University of Paris Saclay, Le Kremlin-Bicêtre, France., Martin-Nalda A; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Novelli G; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy.; IRCCS Neuromed, Pozzilli, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Ozcelik T; Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey., Palabiyik F; Pediatric Infectious Diseases Unit, Bakirkoy Dr Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Pan-Hammarström Q; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden., de Diego RP; Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, University Hospital 'La Paz', Madrid, Spain., Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain.; Center for Biomedical Research On Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Pleguezuelo DE; Immunology Department, University Hospital 12 de Octubre, Research Institute imas12 and Complutense University, Madrid, Spain., Prando C; Faculdades Pequeno Príncipe, Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, Brazil., Pujol A; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain.; Center for Biomedical Research On Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Reyes LF; University of La Sabana, Chía, Colombia., Rivière JG; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Rodriguez-Gallego C; Department of Immunology, University Hospital of Gran Canaria Dr. Negrin, Canarian Health System, Las Palmas de Gran Canaria, Spain.; Department of Clinical Sciences, University of Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain., Rojas J; Primary Immunodeficiencies Group, School of Microbiology, University of Antioquia UdeA, Medellin, Colombia., Rovere-Querini P; Vita-Salute San Raffaele University, Milan, Italy.; Division of Immunology, Transplantation and Infectious Diseases, IRCCS San Raffaele Scientific Institute, Milan, Italy., Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain.; Center for Biomedical Research On Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Shahrooei M; Specialized Immunology Laboratory of Dr Shahrooei, Sina Medical Complex, Ahvaz, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium., Sobh A; Department of Pediatrics, Mansoura University Children's Hospital, Mansoura University Faculty of Medicine, Mansoura, Egypt., Soler-Palacin P; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Tandjaoui-Lambiotte Y; Hypoxia and Lung, INSERM U1272, Avicenne Hospital, Assistance Publique-Hôpitaux de Paris, Bobigny, France., Tipu I; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan., Tresoldi C; Division of Immunology, Transplantation and Infectious Diseases, IRCCS Ospedale San Raffaele, Milan, Italy., Troya J; Department of Internal Medicine, Infanta Leonor University Hospital, Madrid, Spain., van de Beek D; Department of Neurology, Amsterdam UMC, Amsterdam Neuroscience, Amsterdam, Netherlands., Zatz M; Biosciences Institute, University of São Paulo, São Paulo, Brazil., Zawadzki P; MNM Bioscience Inc, Cambridge, MA, USA.; Faculty of Physics, Adam Mickiewicz University, Poznan, Poland., Al-Muhsen SZ; Department of Pediatrics, Immunology Research Laboratory, College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Alosaimi MF; Department of Pediatrics, Immunology Research Laboratory, College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Alsohime FM; Department of Pediatrics, Immunology Research Laboratory, College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Baris-Feldman H; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Butte MJ; Departments of Pediatrics and Microbiology, Immunology, and Molecular Genetics, Division of Immunology, Allergy, and Rheumatology, University of California Los Angeles, Los Angeles, CA, USA., Constantinescu SN; Ludwig Institute for Cancer Research, Brussels, Belgium.; SIGN Unit, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.; WELBIO (Walloon Excellence in Life Sciences and Biotechnology), Brussels, Belgium.; Nuffield Department of Medicine, Ludwig Institute for Cancer Research, Oxford University, Oxford, UK., Cooper MA; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St. Louis, St. Louis, MO, USA., Dalgard CL; The American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, USA.; Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA., Fellay J; School of Life Sciences, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.; Swiss Institute of Bioinformatics, Lausanne, Switzerland.; Precision Medicine Unit, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Heath JR; Institute for Systems Biology, Seattle, WA, USA., Lau YL; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China., Lifton RP; Laboratory of Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, CT, USA., Maniatis T; Zukerman Mind Brain Behavior Institute, Columbia University, New York, NY, USA.; New York Genome Center, New York, NY, USA., Mogensen TH; Department of Biomedicine, Aarhus University, Aarhus, Denmark.; Department of Infectious Diseases, Aarhus University Hospital, Aarhus, Denmark., von Bernuth H; Department of Paediatric Respiratory Medicine, Immunology, and Critical Care Medicine, Charité Universitätsmedizin Berlin, Berlin, Germany., Lermine A; Laboratoire de Biologie Médicale Multisites Seqoia, MG2025, MG2025, Paris, France., Vidaud M; Laboratoire de Biologie Médicale Multisites Seqoia, MG2025, MG2025, Paris, France., Boland A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Nussbaum R; Invitae, San Francisco, CA, USA., Kahn-Kirby A; Invitae, San Francisco, CA, USA., Mentre F; Unité de Recherche Clinique, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris, Paris, France., Tubiana S; Centre d'Investigation Clinique, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris, Paris, France., Gorochov G; Département d'immunologie, INSERM Centre d'Immunologie Et Des Maladies Infectieuses CIMI-Paris, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Paris, France., Tubach F; Département de Santé Publique, Unité de Recherche Clinique PSL-CFX, CIC-1901, Institut Pierre Louis d'Epidémiologie Et de Santé Publique, INSERM, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Sorbonne Université, Paris, France., Hausfater P; Emergency Department, Hôpital Pitié-Salpêtrière, APHP-Sorbonne Université, Paris, France.; GRC-14 BIOFAST Sorbonn Université, UMR INSERM 1166, IHU ICAN, Sorbonne Université, Paris, France., Meyts I; Department of Microbiology, Immunology and Transplantation, Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium., Zhang SY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Notarangelo LD; Laboratory of Host Defenses, NIAID, National Institutes of Health, Bethesda, MA, USA., Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Su HC; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, MD, USA., Boisson B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Jouanguy E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France. casanova@rockefeller.edu.; University Paris Cité, Imagine Institute, Paris, France. casanova@rockefeller.edu.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. casanova@rockefeller.edu.; Howard Hughes Medical Institute, New York, NY, USA. casanova@rockefeller.edu., Zhang Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Cobat A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France. aurelie.cobat@inserm.fr.; University Paris Cité, Imagine Institute, Paris, France. aurelie.cobat@inserm.fr.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. aurelie.cobat@inserm.fr.
Publikováno v:
Genome medicine [Genome Med] 2024 Jan 06; Vol. 16 (1), pp. 6. Date of Electronic Publication: 2024 Jan 06.
Autor:
Matuozzo D; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Talouarn E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Marchal A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Manry J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Zhang Y; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, MD, USA., Bolze A; Helix, San Mateo, CA, USA., Chaldebas M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Milisavljevic B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France., Asano T; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Bizien L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France., Barzaghi F; Department of Paediatric Immunohematology, IRCCS San Raffaele Scientific Institute, Milan, Italy., Abolhassani H; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, Iran., Abou Tayoun A; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.; Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, United Arab Emirates., Aiuti A; San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCSS San Raffaele Scientific Institute, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy., Alavi Darazam I; Infectious Diseases and Tropical Medicine Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Department of Infectious Diseases and Tropical Medicine, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Allende LM; Immunology Department, University Hospital 12 de Octubre, Research Institute imas12 and Complutense University, Madrid, Spain., Alonso-Arias R; Immunology Department, Hospital Universitario Central de Asturias; Health Research Institute of Principality of Asturias, Oviedo, Spain., Arias AA; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Microbiology and Parasitology, Primary Immunodeficiencies Group, School of Medicine, University of Antioquia UdeA, 050010, Medellin, Colombia.; School of Microbiology, University of Antioquia UdeA, 050010, Medellin, Colombia., Aytekin G; Deparment of Internal Medicine, Division of Allergy and Immunology, Konya City Hospital, Konya, Turkey., Bergman P; Department of Infectious Diseases, The Immunodeficiency Unit, Karolinska University Hospital, Stockholm, Sweden.; Department of Laboratory Medicine, Division of Clinical Immunology, Stockholm, Sweden., Bondesan S; Clinical Genomics, IRCSS San Raffaele Scientific Institute, Milan, Italy., Bryceson YT; Department of Medicine, Centre for Hematology and Regenerative Medicine, Karolinska Institute, Stockholm, Sweden., Bustos IG; Universidad de La Sabana, Chía, Colombia., Cabrera-Marante O; Institute of Biomedical Research of IdiPAZ, University Hospital 'La Paz', Madrid, Spain., Carcel S; Unidad de Gestión Clínica de Cuidados Intensivos, Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Hospital Universitario Reina Sofía, Universidad de Córdoba (UCO), Córdoba, Spain., Carrera P; Clinical Genomics, IRCSS San Raffaele Scientific Institute, Milan, Italy., Casari G; Division of Genetics and Cell Biology, Genome-Phenome Relationship, San Raffaele Hospital, Milan, Italy.; School of Medicine, Vita-Salute San Raffaele University, Milan, Italy., Chaïbi K; Intensive Care Unit Department, Avicenne Hospital, Assistance Publique-Hôpitaux de Paris, Bobigny, France.; Common and Rare Kidney Diseases, Sorbonne University, INSERM UMR-S 1155, Paris, France., Colobran R; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Translational Immunology Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Genetics Department, Immunology Division, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain., Condino-Neto A; Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil., Covill LE; Department of Medicine, Centre for Hematology and Regenerative Medicine, Karolinska Institute, Stockholm, Sweden., Delmonte OM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, MD, USA., El Zein L; Biology Department, Lebanese University, Beirut, Lebanon., Flores C; Genomics Division, Institute of Technology and Renewable Energies (ITER), Santa Cruz de Tenerife, Spain.; CIBER de Enfermedades Respiratorias, Carlos III Health Institute, Madrid, Spain.; Research Unit, University Hospital of Ntra. Sra. de Candelaria, Santa Cruz de Tenerife, Spain.; Faculty of Health Sciences, University of Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain., Gregersen PK; Feinstein Institute for Medical Research, Northwell Health USA, Manhasset, NY, USA., Gut M; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain., Haerynck F; Department of Internal Diseases and Pediatrics, Primary Immune Deficiency Research Laboratory, Centre for Primary Immunodeficiency Ghent, Jeffrey Modell Diagnosis and Research Centre, Ghent, Belgium., Halwani R; Research Institute for Medical and Health Sciences, University of Sharjah, Sharjah, United Arab Emirates., Hancerli S; Department of Pediatrics (Infectious Diseases), Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey., Hammarström L; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden., Hatipoğlu N; Pediatric Infectious Diseases Unit, Bakirkoy Dr Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Karbuz A; Department of Pediatric Infectious Disease, Dr. Cemil Tascioglu City Hospital, Istanbul, Turkey., Keles S; Meram Medical Faculty, Pediatric Infectious Diseases Department, Necmettin Erbakan University, Konya, Turkey., Kyheng C; Department of General Paediatrics, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, University of Paris Saclay, Le Kremlin-Bicêtre, France., Leon-Lopez R; Unidad de Gestión Clínica de Cuidados Intensivos, Instituto Maimónides de Investigación Biomédica de Córdoba (IMIBIC), Hospital Universitario Reina Sofía, Universidad de Córdoba (UCO), Córdoba, Spain., Franco JL; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UDEA, Medellin, 050010, Colombia., Mansouri D; The Clinical Tuberculosis and Epidemiology Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Department of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Martinez-Picado J; IrsiCaixa AIDS Research Institute and Institute for Health Science Research Germans Trias I Pujol (IGTP), Badalona, Spain.; Institute for Health Science Research Germans Trias I Pujol (IGTP), Badalona, Spain.; Department of Infectious Diseases and Immunity, University of Vic-Central University of Catalonia, Vic, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.; Consorcio Centro de Investigación Biomédica en Red de Enfermedades Infecciosas (CIBERINFEC), Instituto de Salud Carlos III, Madrid, Spain., Metin Akcan O; Meram Medical Faculty, Pediatric Infectious Diseases Department, Necmettin Erbakan University, Konya, Turkey., Migeotte I; Centre de Génétique Humaine de L'Université Libre de Bruxelles, Hôpital Erasme, Brussels, Belgium., Morange PE; Laboratory of Haematology, La Timone Hospital, Marseille, France.; C2VN, INSERM, INRAE, Aix-Marseille University, Marseille, France., Morelle G; Department of General Paediatrics, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, University of Paris Saclay, Le Kremlin-Bicêtre, France., Martin-Nalda A; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Infection and Immunity in Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Novelli G; Department of Biomedicine and Prevention, Tor Vergata University of Rome, Rome, Italy.; IRCCS Neuromed, Pozzilli, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Ozcelik T; Department of Molecular Biology and Genetics, Bilkent University, Ankara, Turkey., Palabiyik F; Pediatric Infectious Diseases Unit, Bakirkoy Dr Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Pan-Hammarström Q; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden., de Diego RP; Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, University Hospital 'La Paz', Madrid, Spain., Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain.; Center for Biomedical Research On Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Pleguezuelo DE; Immunology Department, University Hospital 12 de Octubre, Research Institute imas12 and Complutense University, Madrid, Spain., Prando C; Faculdades Pequeno Príncipe, Instituto de Pesquisa Pelé Pequeno Príncipe, Curitiba, Brazil., Pujol A; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain.; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain.; Center for Biomedical Research On Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Reyes LF; Universidad de La Sabana, Chía, Colombia., Rivière JG; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Infection and Immunity in Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Rodriguez-Gallego C; Department of Immunology, University Hospital of Gran Canaria Dr. Negrin, Canarian Health System, Las Palmas de Gran Canaria, Spain.; Department of Clinical Sciences, University of Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain., Rojas J; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia UDEA, Medellin, 050010, Colombia., Rovere-Querini P; Vita-Salute San Raffaele University, Milan, Italy.; Division of Immunology, Transplantation and Infectious Diseases, IRCCS San Raffaele Scientific Institute, Milan, Italy., Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Catalonia, Spain.; Center for Biomedical Research On Rare Diseases (CIBERER), ISCIII, Madrid, Spain., Shahrooei M; Specialized Immunology Laboratory of Dr Shahrooei, Sina Medical Complex, Ahvaz, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium., Sobh A; Department of Pediatrics, Mansoura University Children's Hospital, Mansoura University Faculty of Medicine, Mansoura, Egypt., Soler-Palacin P; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Infection and Immunity in Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain., Tandjaoui-Lambiotte Y; Hypoxia and Lung, INSERM U1272, Avicenne Hospital, Assistance Publique-Hôpitaux de Paris, Bobigny, France., Tipu I; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, Pakistan., Tresoldi C; Division of Immunology, Transplantation and Infectious Diseases, IRCCS Ospedale San Raffaele, Milan, Italy., Troya J; Department of Internal Medicine, Infanta Leonor University Hospital, Madrid, Spain., van de Beek D; Department of Neurology, Amsterdam UMC, Amsterdam Neuroscience, Amsterdam, Netherlands., Zatz M; Biosciences Institute, University of São Paulo, São Paulo, Brazil., Zawadzki P; Gordion Bioscience Inc, Cambridge, MA, USA.; Faculty of Physics, Adam Mickiewicz University, Poznan, Poland., Al-Muhsen SZ; Department of Pediatrics, Immunology Research Laboratory, College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Alosaimi MF; Department of Pediatrics, Immunology Research Laboratory, College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Alsohime FM; Department of Pediatrics, Immunology Research Laboratory, College of Medicine and King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia., Baris-Feldman H; The Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Butte MJ; Departments of Pediatrics and Microbiology, Immunology, and Molecular Genetics, Division of Immunology, Allergy, and Rheumatology, University of California Los Angeles, Los Angeles, CA, USA., Constantinescu SN; Ludwig Institute for Cancer Research, Brussels, Belgium.; SIGN Unit, de Duve Institute, Université Catholique de Louvain, Brussels, Belgium.; WELBIO (Walloon Excellence in Life Sciences and Biotechnology), Brussels, Belgium.; Nuffield Department of Medicine, Ludwig Institute for Cancer Research, Oxford University, Oxford, UK., Cooper MA; Department of Pediatrics, Division of Rheumatology/Immunology, Washington University in St. Louis, St. Louis, MO, USA., Dalgard CL; The American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, USA.; Department of Anatomy, Physiology & Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA., Fellay J; School of Life Sciences, École Polytechnique Fédérale de Lausanne, Lausanne, Switzerland.; Swiss Institute of Bioinformatics, Lausanne, Switzerland.; Precision Medicine Unit, Lausanne University Hospital and University of Lausanne, Lausanne, Switzerland., Heath JR; Institute for Systems Biology, Seattle, WA, USA., Lau YL; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Li Ka Shing Faculty of Medicine, University of Hong Kong, Hong Kong, China., Lifton RP; Laboratory of Genetics and Genomics, The Rockefeller University, New York, NY, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.; Yale Center for Genome Analysis, Yale School of Medicine, New Haven, CT, USA., Maniatis T; Zukerman Mind Brain Behavior Institute, Columbia University, New York, NY, USA.; New York Genome Center, New York, NY, USA., Mogensen TH; Department of Biomedicine, Aarhus University, Aarhus, Denmark.; Department of Infectious Diseases, Aarhus University Hospital, Aarhus, Denmark., von Bernuth H; Department of Paediatric Respiratory Medicine, Immunology, and Critical Care Medicine, Charité Universitätsmedizin Berlin, Berlin, Germany., Lermine A; Laboratoire de Biologie Médicale Multisites Seqoia, MG2025, MG2025, Paris, France., Vidaud M; Laboratoire de Biologie Médicale Multisites Seqoia, MG2025, MG2025, Paris, France., Boland A; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Deleuze JF; Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), Evry, France., Nussbaum R; Invitae, San Francisco, CA, USA., Kahn-Kirby A; Invitae, San Francisco, CA, USA., Mentre F; Unité de Recherche Clinique, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris, Paris, France., Tubiana S; Centre d'Investigation Clinique, Hôpital Bichat, Assistance Publique-Hôpitaux de Paris, Paris, France., Gorochov G; Sorbonne Université, INSERM Centre d'Immunologie et des Maladies Infectieuses, CIMI-Paris, Département d'immunologie Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France., Tubach F; Sorbonne Université, INSERM, Institut Pierre Louis d'Epidémiologie et de Santé Publique, AP-HP, Hôpital Pitié Salpêtrière, Département de Santé Publique, Unité de Recherche Clinique PSL-CFX , CIC-1901, Paris, France., Hausfater P; Emergency Department, Hôpital Pitié-Salpêtrière, APHP-Sorbonne Université, Paris, France.; GRC-14 BIOFAST Sorbonn Université, UMR INSERM 1135, CIMI, Sorbonne Université, Paris, France., Meyts I; Department of Microbiology, Immunology and Transplantation, Laboratory for Inborn Errors of Immunity, KU Leuven, Leuven, Belgium., Zhang SY; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Notarangelo LD; Laboratory of Host Defenses, NIAID, National Institutes of Health, Bethesda, MA, USA., Boisson-Dupuis S; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Su HC; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, MD, USA., Boisson B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Jouanguy E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France. casanova@rockefeller.edu.; University Paris Cité, Imagine Institute, Paris, France. casanova@rockefeller.edu.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. casanova@rockefeller.edu.; Howard Hughes Medical Institute, New York, NY, USA. casanova@rockefeller.edu., Zhang Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France.; University Paris Cité, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Cobat A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Paris, France. aurelie.cobat@inserm.fr.; University Paris Cité, Imagine Institute, Paris, France. aurelie.cobat@inserm.fr.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. aurelie.cobat@inserm.fr.
Publikováno v:
Genome medicine [Genome Med] 2023 Apr 05; Vol. 15 (1), pp. 22. Date of Electronic Publication: 2023 Apr 05.
Autor:
Asano T; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. casanova@rockefeller.edu bebo283@rockefeller.edu.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Onodi F; Laboratory of Genomes & Cell Biology of Disease, INSERM U944, CNRS UMR7212, University of Paris, Research Institute of Saint-Louis, Saint-Louis Hospital, Paris, France., Matuozzo D; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Moncada-Velez M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Maglorius Renkilaraj MRL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Meertens L; Laboratory of Genomes & Cell Biology of Disease, INSERM U944, CNRS UMR7212, University of Paris, Research Institute of Saint-Louis, Saint-Louis Hospital, Paris, France., Bolze A; Helix, San Mateo, CA, USA., Materna M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Korniotis S; University of Paris, INSERM U976, F-75006 Paris, France., Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Talouarn E; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Bigio B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Bilguvar K; Yale Center for Genome Analysis and Department of Genetics, Yale School of Medicine, New Haven, CT, USA., Zhang Y; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.; NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA., Neehus AL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Pelham SJ; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Philippot Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Soler-Palacín P; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain., Colobran R; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain.; Diagnostic Immunology Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia, Spain.; Immunology Division, Genetics Department, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain., Martin-Nalda A; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain., Rivière JG; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Barcelona Hospital Campus, Barcelona, Catalonia Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital (HUVH), Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Hospital Campus, Autonomous University of Barcelona (UAB), Barcelona, Catalonia, Spain.; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Catalonia, Spain., Tandjaoui-Lambiotte Y; AP-HP, Avicenne Hospital, Intensive Care Unit, Bobigny, France.; INSERM U1272 Hypoxia & Lung, Bobigny, France., Chaïbi K; Anesthesiology and Critical Care Medicine Department, APHP, Avicenne Hospital, Bobigny, France.; Common and Rare Kidney Diseases, Sorbonne University, INSERM UMR-S 1155, Paris, France., Shahrooei M; Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium., Darazam IA; Infectious Diseases and Tropical Medicine Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; Department of Infectious Diseases and Tropical Medicine, Loghman Hakim Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Olyaei NA; Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, Ahvaz, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium., Mansouri D; Department of Clinical Immunology and Infectious Diseases, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.; The Clinical Tuberculosis and Epidemiology Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Masih Daneshvari Hospital, Shahid Beheshti, University of Medical Sciences, Tehran, Iran.; Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti, Iran., Hatipoğlu N; Pediatric Infectious Diseases Unit, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Palabiyik F; Pediatric Infectious Diseases Unit, Bakirkoy Dr. Sadi Konuk Training and Research Hospital, University of Health Sciences, Istanbul, Turkey., Ozcelik T; Department of Molecular Biology and Genetics, University of Bilkent, Bilkent-Ankara, Turkey., Novelli G; Department of Biomedicine and Prevention, University of Rome 'Tor Vergata,' Rome, and Neuromed Institute, IRCCS, Pozzilli (IS), Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Casari G; Vita-Salute San Raffaele University, Milan, Italy.; Clinical Genomics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Aiuti A; Vita-Salute San Raffaele University, Milan, Italy.; San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) and Pediatric Immunohematology Unit and BMT Program, IRCCS San Raffaele Scientific Institute, Milan, Italy., Carrera P; Clinical Genomics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Bondesan S; Clinical Genomics, IRCCS San Raffaele Scientific Institute, Milan, Italy., Barzaghi F; San Raffaele Telethon Institute for Gene Therapy (SR-Tiget) and Pediatric Immunohematology Unit and BMT Program, IRCCS San Raffaele Scientific Institute, Milan, Italy., Rovere-Querini P; Vita-Salute San Raffaele University, Milan, Italy.; Division of Immunology, Transplantation and Infectious Diseases, IRCCS San Raffaele Scientific Institute, Milan, Italy., Tresoldi C; Molecular Hematology Unit, IRCCS Ospedale San Raffaele, Milan, Italy., Franco JL; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia., Rojas J; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia., Reyes LF; Universidad de La Sabana, Chia, Colombia., Bustos IG; Universidad de La Sabana, Chia, Colombia., Arias AA; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.; School of Microbiology, University of Antioquia UdeA, Medellín, Colombia., Morelle G; Department of General Pediatrics, Hôpital Bicêtre, AP-HP, University of Paris Saclay, Le Kremlin-Bicêtre, France., Christèle K; Department of General Pediatrics, Hôpital Bicêtre, AP-HP, University of Paris Saclay, Le Kremlin-Bicêtre, France., Troya J; Department of Internal Medicine, Infanta Leonor University Hospital, Madrid, Spain., Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain., Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain., Gut M; CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Baldiri Reixac 4, 08028, Barcelona, Spain., Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), Barcelona, Spain.; Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Spain.; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Spain., Allende LM; Immunology Department, University Hospital 12 de Octubre, Research Institute Hospital 12 de Octubre (I+12), Madrid, Spain.; Complutense University, Madrid, Spain., Rodriguez-Gallego C; Department of Immunology, University Hospital of Gran Canaria Dr. Negrín, Canarian Health System, Las Palmas de Gran Canaria, Spain.; Department of Clinical Sciences, University of Fernando Pessoa Canarias, Las Palmas de Gran Canaria, Spain., Flores C; Genomics Division, Institute of Technology and Renewable Energies (ITER), Santa Cruz de Tenerife, Spain.; CIBER de Enfermedades Respiratorias, Health Institute of Carlos III, Madrid, Spain.; Research Unit, University Hospital of N.S. de Candelaria, Santa Cruz de Tenerife, Spain.; Institute of Biomedical technologies (ITB), University of La Laguna, San Cristóbal de La Laguna, Spain., Cabrera-Marante O; Immunology Department, University Hospital 12 de Octubre, Research Institute Hospital 12 de Octubre (I+12), Madrid, Spain., Pleguezuelo DE; Immunology Department, University Hospital 12 de Octubre, Research Institute Hospital 12 de Octubre (I+12), Madrid, Spain., de Diego RP; Institute of Biomedical Research of IdiPAZ, University Hospital 'La Paz', Madrid, Spain., Keles S; Necmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Konya, Turkey., Aytekin G; Konya City Hospital, Division of Allergy and Immunology, Konya, Turkey., Akcan OM; Necmettin Erbakan University, Meram Medical Faculty, Division of Pediatric Allergy and Immunology, Konya, Turkey., Bryceson YT; Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden., Bergman P; Department of Laboratory Medicine, Division of Clinical Microbiology, Karolinska Institute, Stockholm, Sweden.; The Immunodeficiency Unit, Infectious Disease Clinic, Karolinska University Hospital, Stockholm, Sweden., Brodin P; Science for Life Laboratory, Department of Women's and Children's Health, Karolinska Institute, Solna, Sweden., Smole D; Central Hospital-Anesthesia and Intensive Care Unit, Karlstad, Sweden., Smith CIE; Department of Laboratory Medicine, Division of Biomolecular and Cellular Medicine, Karolinska Institute, Stockholm, Sweden.; The Immunodeficiency Unit, Infectious Disease Clinic, Karolinska University Hospital, Stockholm, Sweden., Norlin AC; The Immunodeficiency Unit, Infectious Disease Clinic, Karolinska University Hospital, Stockholm, Sweden., Campbell TM; Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden., Covill LE; Centre for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden., Hammarström L; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden., Pan-Hammarström Q; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden., Abolhassani H; Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden.; Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Mane S; Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, USA., Marr N; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar., Ata M; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar., Al Ali F; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar., Khan T; Department of Immunology, Research Branch, Sidra Medicine, Doha, Qatar., Spaan AN; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht, Netherlands., Dalgard CL; Department of Anatomy, Physiology & Genetics Uniformed Services University of the Health Sciences, Bethesda, MD, USA.; The American Genome Center, Uniformed Services University of the Health Sciences, Bethesda, MD, USA., Bonfanti P; Department of Infectious Diseases, San Gerardo Hospital-University of Milano-Bicocca, Monza, Italy., Biondi A; Pediatric Department and Centro Tettamanti-European Reference Network PaedCan, EuroBloodNet, MetabERN-University of Milano-Bicocca-Fondazione MBBM- Ospedale San Gerardo, Monza, Italy., Tubiana S; Centre d'Investigation Clinique, INSERM CIC 1425, Paris, France.; Hôpital Bichat Claude Bernard, APHP, Paris, France., Burdet C; Centre d'Investigation Clinique, INSERM CIC 1425, Paris, France.; Université de Paris, IAME, INSERM UMR 1137, Paris, France., Nussbaum R; Invitae, San Francisco, CA, USA., Kahn-Kirby A; Invitae, San Francisco, CA, USA., Snow AL; Department of Pharmacology & Molecular Therapeutics, Uniformed Services University of the Health Sciences, Bethesda, MD, USA., Bustamante J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Center for the Study of Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, Paris, France, EU., Puel A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Boisson-Dupuis S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Zhang SY; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Béziat V; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Lifton RP; Yale Center for Genome Analysis and Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Laboratory of Genetics and Genomics, The Rockefeller University, New York, NY, USA., Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.; NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA., Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Su HC; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.; NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA.; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Jouanguy E; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Amara A; Laboratory of Genomes & Cell Biology of Disease, INSERM U944, CNRS UMR7212, University of Paris, Research Institute of Saint-Louis, Saint-Louis Hospital, Paris, France., Soumelis V; University of Paris, INSERM U976, F-75006 Paris, France.; APHP, Hôpital Saint-Louis, Department of Immunology-Histocompatibility, 75010 Paris, France., Cobat A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France., Zhang Q; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. casanova@rockefeller.edu bebo283@rockefeller.edu.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France.; University of Paris, Imagine Institute, Paris, France.; Howard Hughes Medical Institute, New York, NY, USA.
Publikováno v:
Science immunology [Sci Immunol] 2021 Aug 19; Vol. 6 (62).