Genome-wide analysis identifies a role for common copy number variants in specific language impairment

Autor: Simpson, NH, Ceroni, F, Reader, RH, Covill, LE, Knight, JC, Hennessy, ER, Bolton, PF, Conti-Ramsden, G, O'Hare, A, Baird, G, Fisher, SE, Newbury, DF

An exploratory genome-wide copy number variant (CNV) study was performed in 127 independent cases with specific language impairment (SLI), their first-degree relatives (385 individuals) and 269 population controls. Language-impaired cases showed an i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::22e358a90cad9df847226341beba90ca
https://ora.ox.ac.uk/objects/uuid:6abd09e5-d5ba-4000-b317-a6ac2dacf2d7

Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis.

Autor: Chiang SCC; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH., Covill LE; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.; Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden., Tesi B; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Division of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Campbell TM; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.; Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden., Schlums H; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.; Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden., Nejati-Zendegani J; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden., Mördrup K; Unit of Pediatric Rheumatology, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Karolinska Institutet, Stockholm, Sweden., Wood S; Department of Medicine, Center for Infectious Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden., Theorell J; Department of Medicine, Center for Infectious Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden., Sekine T; Department of Medicine, Center for Infectious Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden., Al-Herz W; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait., Akar HH; Department of Pediatric Immunology, Faculty of Medicine, Erciyes University, Kayseri, Turkey., Belen FB; Department of Pediatrics, Baskent University Medical Faculty, Ankara, Turkey., Chan MY; Haematology/Oncology Service, Department of Paediatric Subspecialties, Kandang Kerbau Women's and Children's Hospital, Singapore, Singapore., Devecioglu O; Department of Pediatric Hematology-Oncology, Istanbul Medical School, Istanbul, Turkey., Aksu T; Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey., Ifversen M; Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark., Malinowska I; Department of Pediatrics, Hematology and Oncology, Medical University of Warsaw, Warsaw, Poland., Sabel M; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Queen Silvia Children's Hospital, Gothenburg, Sweden., Unal E; Faculty of Health Sciences, Medical Point Hospital, Hasan Kalyoncu University, Gaziantep, Turkey., Unal S; Division of Pediatric Hematology, Hacettepe University, Ankara, Turkey., Introne WJ; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Krzewski K; Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD., Gilmour KC; Immunology, NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom., Ehl S; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Ljunggren HG; Department of Medicine, Center for Infectious Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden., Nordenskjöld M; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Division of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Horne A; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden., Henter JI; Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital Solna, Stockholm, Sweden., Meeths M; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.; Division of Clinical Genetics and Genomics, Karolinska University Hospital, Stockholm, Sweden., Bryceson YT; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Karolinska University Hospital Huddinge, Stockholm, Sweden.; Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden.; Broegelmann Research Laboratory, Department of Clinical Science, University of Bergen, Bergen, Norway.

Publikováno v: Blood [Blood] 2024 Aug 22; Vol. 144 (8), pp. 873-887.

Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.

Autor: Kögl T; Institute for Immunology, Center for Microbiology and Hygiene, Medical Center-University of Freiburg , Freiburg, Germany.; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany., Chang HF; Cellular Neurophysiology, Center for Integrative Physiology and Molecular Medicine, Saarland University , Homburg, Germany., Staniek J; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Faculty of Medicine, Medical Center- University of Freiburg, Freiburg, Germany., Chiang SCC; Division of Bone Marrow Transplantation and Immune Deficiency, and Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.; Department of Medicine, Center for Hematology and Regenerative Medicine Huddinge, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden., Thoulass G; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Biology, Albert-Ludwigs-University of Freiburg, Freiburg, Germany., Lao J; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Biology, Albert-Ludwigs-University of Freiburg, Freiburg, Germany., Weißert K; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany., Dettmer-Monaco V; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Institute for Transfusion Medicine and Gene Therapy-University of Freiburg, Freiburg, Germany., Geiger K; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Biology, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Institute for Transfusion Medicine and Gene Therapy-University of Freiburg, Freiburg, Germany., Manna PT; Department of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden., Beziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Momenilandi M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité , Paris, France., Tu SM; Cellular Neurophysiology, Center for Integrative Physiology and Molecular Medicine, Saarland University , Homburg, Germany., Keppler SJ; Division of Rheumatology and Immunology, Medical University of Graz, Graz, Austria., Pattu V; Cellular Neurophysiology, Center for Integrative Physiology and Molecular Medicine, Saarland University , Homburg, Germany., Wolf P; Department of Urology, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany., Kupferschmid L; Institute of Medical Microbiology and Hygiene, University Medical Center , Freiburg, Germany., Tholen S; Department of Pathology, Institute of Surgical Pathology, University Medical Center, University of Freiburg, Freiburg, Germany., Covill LE; Department of Medicine, Center for Hematology and Regenerative Medicine Huddinge, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden., Ebert K; Institute for Immunology, Center for Microbiology and Hygiene, Medical Center-University of Freiburg , Freiburg, Germany., Straub T; Institute for Immunology, Center for Microbiology and Hygiene, Medical Center-University of Freiburg , Freiburg, Germany., Groß M; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany., Gather R; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany., Engel H; Institute for Immunology, Center for Microbiology and Hygiene, Medical Center-University of Freiburg , Freiburg, Germany., Salzer U; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Faculty of Medicine, Medical Center- University of Freiburg, Freiburg, Germany., Schell C; Department of Pathology, Institute of Surgical Pathology, University Medical Center, University of Freiburg, Freiburg, Germany., Maier S; Division of Pediatric Stem Cell Transplantation and Immunology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lehmberg K; Division of Pediatric Stem Cell Transplantation and Immunology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Cornu TI; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Institute for Transfusion Medicine and Gene Therapy-University of Freiburg, Freiburg, Germany., Pircher H; Institute for Immunology, Center for Microbiology and Hygiene, Medical Center-University of Freiburg , Freiburg, Germany., Shahrooei M; Department of Microbiology, Immunology, and Transplantation, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium.; Dr. Shahrooei Laboratory, Tehran University of Medical Sciences, Tehran, Iran., Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.; Research Center for Immunodeficiencies, Tehran University of Medical Sciences , Tehran, Iran., Elling R; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty for Medicine, Center for Pediatrics and Adolescent Medicine, Medical Center-University of Freiburg, Freiburg, Germany., Rizzi M; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Faculty of Medicine, Medical Center- University of Freiburg, Freiburg, Germany.; Division of Clinical and Experimental Immunology, Institute of Immunology, Center for Pathophysiology, Infectiology and Immunology, Medical University of Vienna, Vienna, Austria.; Centre for Integrative Biological Signalling Studies, University of Freiburg , Freiburg, Germany.; Faculty of Medicine, Clinical Immunology, Medical Center-University of Freiburg, Freiburg, Germany., Bryceson YT; Department of Medicine, Center for Hematology and Regenerative Medicine Huddinge, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden.; Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, Stockholm, Sweden.; Broegelmann Laboratory, Department of Clinical Sciences, University of Bergen, Bergen, Norway., Ehl S; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany., Aichele P; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany., Ammann S; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2024 Jul 01; Vol. 221 (7). Date of Electronic Publication: 2024 May 09.

Evaluation of Genetic or Cellular Impairments in Type I IFN Immunity in a Cohort of Young Adults with Critical COVID-19.

Autor: Covill LE; Center for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden., Sendel A; Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden., Campbell TM; Center for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden., Piiroinen I; Center for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden., Enoksson SL; Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden., Borgström EW; Division of Infectious Diseases, Karolinska University Hospital, Stockholm, Sweden., Hansen S; Division of Infectious Diseases, Karolinska University Hospital, Stockholm, Sweden., Ma K; Center for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden., Marits P; Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden., Norlin AC; Division of Infectious Diseases, Karolinska University Hospital, Stockholm, Sweden., Smith CIE; Division of Infectious Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden., Kåhlin J; Division of Perioperative Medicine and Intensive Care, Karolinska University Hospital, Stockholm, Sweden., Eriksson LI; Division of Perioperative Medicine and Intensive Care, Karolinska University Hospital, Stockholm, Sweden., Bergman P; Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden.; Division of Infectious Diseases, Karolinska University Hospital, Stockholm, Sweden.; Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden., Bryceson YT; Center for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institute, Stockholm, Sweden. yenan.bryceson@ki.se.; Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital, Stockholm, Sweden. yenan.bryceson@ki.se.; Broegelmann Laboratory, Department of Clinical Sciences, University of Bergen, Bergen, Norway. yenan.bryceson@ki.se.

Publikováno v: Journal of clinical immunology [J Clin Immunol] 2024 Jan 17; Vol. 44 (2), pp. 50. Date of Electronic Publication: 2024 Jan 17.

Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19.

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.; 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Publikováno v: Genome medicine [Genome Med] 2023 Apr 05; Vol. 15 (1), pp. 22. Date of Electronic Publication: 2023 Apr 05.