Utilization of next-generation sequencing to define the role of heterozygous FOXN1 variants in immunodeficiency

Autor: Yehonatan Pasternak, MD, Linda Vong, PhD, Daniele Merico, PhD, Laura Abrego Fuentes, MD, Ori Scott, MD, Marina Sham, MD, Meghan Fraser, RN, Abby Watts-Dickens, CGC, Jessica Willett Pachul, RN, MN, Vy H.D. Kim, MD, MScCH, FRCPC, Christian R. Marshall, PhD, Stephen Scherer, PhD, Chaim M. Roifman, CM, MD, FRCPC, FCACB

Publikováno v: Journal of Allergy and Clinical Immunology: Global, Vol 3, Iss 3, Pp 100267- (2024)

Background: Forkhead box protein N1 (FOXN1) transcription factor plays an essential role in the development of thymic epithelial cells, required for T-cell differentiation, maturation, and function. Biallelic pathogenic variants in FOXN1 cause severe

Externí odkaz: https://doaj.org/article/a56639754b74444aade0d15c9a346406

Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters—A new syndromeHow to cite this article: Somech R, Somers GR, Chitayat D, Grunebaum E, Atkinson A, Kolomietz E, Roifman CM. 2007. Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters—A new syndrome. Am J Med Genet Part A 146A:8–14.

Autor: Somech, Raz, Somers, Gino R., Chitayat, David, Grunebaum, Eyal, Atkinson, Adelle, Kolomietz, Elena, Roifman, Chaim M

Publikováno v: American Journal of Medical Genetics. Part A; January 2008, Vol. 146 Issue: 1 p8-14, 7p

Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.

Autor: Ballios BG; Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada., Mandola A; Division of Immunology and Allergy, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada., Tayyib A; Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada.; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada., Tumber A; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada., Garkaby J; Division of Immunology and Allergy, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada., Vong L; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, ON, Canada., Heon E; Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada.; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada., Roifman CM; Division of Immunology and Allergy, The Hospital for Sick Children and the University of Toronto, Toronto, ON, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, ON, Canada., Vincent A; Department of Ophthalmology and Vision Sciences, University of Toronto, Toronto, ON, Canada. ajoy.vincent@sickkids.ca.; Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, ON, Canada. ajoy.vincent@sickkids.ca.

Publikováno v: Eye (London, England) [Eye (Lond)] 2023 Dec; Vol. 37 (18), pp. 3734-3742. Date of Electronic Publication: 2023 May 24.

Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.

Autor: Le Voyer T; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France. tom.le-voyer@institutimagine.org.; Paris Cité University, Imagine Institute, Paris, France. tom.le-voyer@institutimagine.org., Parent AV; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA., Liu X; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA., Cederholm A; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden., Gervais A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Rosain J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Study Center for Immunodeficiencies, Necker Hospital for Sick Children, Paris, France., Nguyen T; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia., Perez Lorenzo M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Rackaityte E; Department of Biochemistry and Biophysics, University of California San Francisco, San Francisco, CA, USA., Rinchai D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Zhang P; 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 UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Hancioglu G; Division of Pediatric Allergy and Immunology, Ondokuz Mayıs University Faculty of Medicine, Samsun, Turkey., Ghillani-Dalbin P; Department of Immunology, AP-HP, Pitié-Salpêtrière Hospital, Paris, France., Charuel JL; Department of Immunology, AP-HP, Pitié-Salpêtrière Hospital, Paris, France., Philippot Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Gueye MS; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Maglorius Renkilaraj MRL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Soudée C; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Migaud M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Rozenberg F; Virology, Cochin-Saint-Vincent de Paul Hospital, University of Paris, Paris, France., Momenilandi M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Riller Q; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Paris Cité University, Imagine Institute, INSERM UMR1163, Paris, France., Imberti L; Section of Microbiology, University of Brescia, Brescia, Italy., Delmonte OM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Müller G; Institute for Immunodeficiency, Center for Chronic Immunodeficiencies, Medical Center-University Hospital Freiburg, and Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Keller B; Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Orrego J; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia., Franco Gallego WA; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia., Rubin T; Division of Pediatric Clinical Immunology and Allergy, Department of Pediatrics and Child Health, University of Manitoba, Winnipeg, Manitoba, Canada., Emiroglu M; Department of Pediatric Infectious Diseases, Faculty of Medicine, Selcuk University, Konya, Turkey., Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran., Eriksson D; Department of Clinical Genetics, Uppsala University Hospital, Uppsala, Sweden.; Department of Immunology, Genetics and Pathology, Section of Clinical Genetics, Uppsala University and University Hospital, Uppsala, Sweden.; Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden., Aranda-Guillen M; Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden., Berrios DI; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA., Vong L; Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, Ontario, Canada., Katelaris CH; Immunology and Allergy, University of Western Sydney and Campbelltown Hospital, Campbelltown, New South Wales, Australia., Mustillo P; Division of Allergy and Immunology, Nationwide Children's Hospital, The Ohio State University College of Medicine, Columbus, OH, USA., Raedler J; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Bohlen J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France., Bengi Celik J; Department of Anesthesiology and Reanimation, Selcuk University Faculty of Medicine, Konya, Turkey., Astudillo C; Hospital de Niños Roberto del Río, Santiago, Chile.; Department of Pediatrics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile., Winter S; Laboratory of Lymphocyte Activation and Susceptibility to EBV, Paris Cité University, Imagine Institute, Inserm UMR1163, Paris, France., McLean C; Department of Anatomical Pathology, The Alfred Hospital, Prahran, Victoria, Australia., Guffroy A; Department of Clinical Immunology and Internal Medicine, National Reference Center for Autoimmune Diseases, Strasbourg University Hospital, Strasbourg, France., DeRisi JL; Department of Biochemistry and Biophysics, University of California San Francisco, San Francisco, CA, USA.; Chan Zuckerberg Biohub, San Francisco, CA, USA., Yu D; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA., Miller C; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA., Feng Y; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Guichard A; Joint Unit Hospices Civils de Lyon-BioMérieux, Lyon, France., Béziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Bustamante J; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; Study Center for Immunodeficiencies, Necker Hospital for Sick Children, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Pan-Hammarström Q; Department of Biosciences and Nutrition, Karolinska Institutet, Stockholm, Sweden.; Division of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden., Zhang Y; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.; NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA., Rosen LB; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Holland SM; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Bosticardo M; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Kenney H; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Castagnoli R; Pediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, Pavia, Italy.; Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy., Slade CA; Immunology Division, Walter and Eliza Hall Institute, Melbourne, Victoria, Australia.; Dept Medical Biology, University of Melbourne, Victoria, Parkville, Australia.; Dept Clinical Immunology and Allergy, The Royal Melbourne Hospital, Parkville, Australia., Boztuğ K; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.; Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria.; Anna Children's Cancer Research Institute, Vienna, Austria.; Anna Children's Hospital, Vienna, Austria., Mahlaoui N; French National Reference Center for Primary Immunodeficiencies (CEREDIH), Necker-Enfants University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.; Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France., Latour S; Laboratory of Lymphocyte Activation and Susceptibility to EBV, Paris Cité University, Imagine Institute, Inserm UMR1163, Paris, France., Abraham RS; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA., Lougaris V; Department of Clinical and Experimental Sciences, Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, University of Brescia ASST-Spedali Civili di Brescia, Brescia, Italy., Hauck F; Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany., Sediva A; Department of Immunology, Second Faculty of Medicine Charles University and Motol University Hospital, Prague, Czech Republic., Atschekzei F; Department of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany., Sogkas G; Department of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany., Poli MC; Hospital de Niños Roberto del Río, Santiago, Chile.; Department of Pediatrics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile., Slatter MA; Children's Haemopoietic Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle-upon-Tyne Hospital NHS Foundation Trust, Newcastle upon Tyne, UK., Palterer B; Allergy and Clinical Immunology, Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy., Keller MD; Division of Allergy and Immunology, Children's National Medical Center, Washington, DC, USA., Pinzon-Charry A; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Immunology and Allergy, Queensland Children's Hospital, South Brisbane, Queensland, Australia., Sullivan A; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Immunology and Allergy, Queensland Children's Hospital, South Brisbane, Queensland, Australia., Droney L; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Immunology and Allergy, Queensland Children's Hospital, South Brisbane, Queensland, Australia., Suan D; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia., Wong M; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.; Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia., Kane A; School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia.; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; South Western Sydney Clinical School, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.; Department of Immunology, Allergy and HIV, St Vincent's Hospital, Sydney, New South Wales, Australia., Hu H; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; South Western Sydney Clinical School, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia.; Department of Immunology, Allergy and HIV, St Vincent's Hospital, Sydney, New South Wales, Australia., Ma C; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia.; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia., Grombiříková H; Centre for Cardiovascular Surgery and Transplantation, Medical Faculty, Masaryk University, Brno, Czech Republic., Ciznar P; Department of Paediatrics, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovakia., Dalal I; Pediatric Department, E. Wolfson Medical Center, Tel Aviv University, Tel Aviv, Israel., Aladjidi N; Pediatric Oncology Hematology Unit, University Hospital, Plurithématique CIC (CICP), Centre d'Investigation Clinique (CIC) 1401, Bordeaux, France., Hie M; Internal Medicine Department, Pitié-Salpêtrière Hospital, Paris, France., Lazaro E; Department of Internal Medicine & Infectious Diseases, Bordeaux Hospital University, Bordeaux, France., Franco J; Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia., Keles S; Division of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey., Malphettes M; Clinical Immunology Department, Saint Louis Hospital, Paris, France., Pasquet M; Department of Pediatric Hematology, Toulouse University Hospital, Toulouse, France., Maccari ME; Institute for Immunodeficiency, Center for Chronic Immunodeficiencies, Medical Center-University Hospital Freiburg, and Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany.; Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Meinhardt A; Department of Pediatric Hematology, Oncology and Immunodeficiencies, University Children's Hospital Gießen, Giessen, Germany., Ikinciogullari A; Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey., Shahrooei M; Dr. Shahrooei Lab, Tehran, Iran.; Clinical and Diagnostic Immunology, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Leuven, Belgium., Celmeli F; Department of Allergy and Immunology, University of Medical Science, Antalya Education and Research Hospital, Antalya, Turkey., Frosk P; Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada., Goodnow CC; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia.; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia., Gray PE; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.; Immunology and Infectious Diseases, Sydney Children's Hospital Randwick, Western Sydney University, Campbelltown, New South Wales, Australia., Belot A; CNRS UMR 5308, ENS, UCBL, Lyon, France.; National Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE), Lyon, France.; Immunopathology Federation LIFE, Hospices Civils de Lyon, Lyon, France., Kuehn HS; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Rosenzweig SD; Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Miyara M; Department of Immunology, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.; Centre d'Immunologie et des Maladies Infectieuses (CIMI), Sorbonne Université, INSERM U1135, Paris, France., Licciardi F; Department of Pediatrics and Public Health, Università degli Studi di Torino, Turin, Italy., Servettaz A; Internal Medicine, Clinical Immunology and Infectious Diseases Department, University Hospital Center, Reims, France.; IRMAIC EA 7509, URCA, Reims, France., Barlogis V; CHU Marseille, Hôpital La Timone, Service d'Hémato-oncologie Pédiatrique, Assistance Publique-Hôpitaux de Marseille, Marseille, France., Le Guenno G; Centre Hospitalier Universitaire Estaing, Clermont-Ferrand, France., Herrmann VM; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Kuijpers T; Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands., Ducoux G; Department of Internal Medicine, Edouard Herriot Hospital, Lyon, France., Sarrot-Reynauld F; Department of Internal Medicine, Hôpital Michallon, CHU de Grenoble Alpes, Grenoble, France., Schuetz C; Department of Pediatrics, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Cunningham-Rundles C; Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA., Rieux-Laucat F; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Paris Cité University, Imagine Institute, INSERM UMR1163, Paris, France., Tangye SG; Garvan Institute of Medical Research, Sydney, New South Wales, Australia.; School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia.; Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia., Sobacchi C; IRCCS Humanitas Research Hospital, Rozzano, Italy.; CNR-IRGB, Milan Unit, Milan, Italy., Doffinger R; Department of Clinical Biochemistry and Immunology, Addenbrooke's Hospital, Cambridge, UK., Warnatz K; Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Grimbacher B; Institute for Immunodeficiency, Center for Chronic Immunodeficiencies, Medical Center-University Hospital Freiburg, and Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Fieschi C; Clinical Immunology Department, Saint Louis Hospital, Paris, France.; Paris Cité University, Paris, France., Berteloot L; Pediatric Radiology Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France., Bryant VL; Immunology Division, Walter and Eliza Hall Institute, Melbourne, Victoria, Australia.; Dept Medical Biology, University of Melbourne, Victoria, Parkville, Australia.; Dept Clinical Immunology and Allergy, The Royal Melbourne Hospital, Parkville, Australia., Trouillet Assant S; Joint Unit Hospices Civils de Lyon-BioMérieux, Lyon, France.; CIRI (Centre International de Recherche en Infectiologie), Université de Lyon, Université Claude Bernard Lyon 1, INSERM U1111, CNRS, UMR5308, ENS Lyon, Université Jean Monnet de Saint-Etienne, Lyon, France., Su H; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA.; NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA., Neven B; Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France., Abel L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Zhang Q; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Boisson B; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, 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 UMR1163, Paris, France.; Paris Cité University, 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 UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Kampe O; Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden., Bastard P; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.; Paris Cité University, Imagine Institute, Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.; Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France., Roifman CM; Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the Diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, Ontario, Canada., Landegren N; Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.; Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Anderson MS; Diabetes Center, University of California, San Francisco, San Francisco, CA, USA.; Department of Medicine, University of California, San Francisco, San Francisco, CA, USA., Casanova JL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France. casanova@rockefeller.edu.; Paris Cité University, 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.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France. casanova@rockefeller.edu., Puel A; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France. anne.puel@inserm.fr.; Paris Cité University, Imagine Institute, Paris, France. anne.puel@inserm.fr.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. anne.puel@inserm.fr.

Publikováno v: Nature [Nature] 2023 Nov; Vol. 623 (7988), pp. 803-813. Date of Electronic Publication: 2023 Nov 08.

DNA-Binding domain mutations confer severe outcome at an early age among STAT1 gain-of-function patients.

Autor: Scott O; Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Dadi H; Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, Ontario, Canada., Vong L; Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, Ontario, Canada., Pasternak Y; Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Garkaby J; Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Willett Pachul J; Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada., Mandola AB; Pediatrics Department A, Soroka University Medical Center, Beer-Sheva, Israel., Brager R; Division of Rheumatology, Immunology, and Allergy, Department of Paediatrics, McMaster Children's Hospital, McMaster University, Hamilton, Ontario, Canada., Hostoffer R; Division of Pulmonary and Critical Care, University Hospitals Cleveland Medical Center, Cleveland, Ohio, USA., Nahum A; Pediatrics Department A, Soroka University Medical Center, Beer-Sheva, Israel.; The Primary Immunodeficiency Research Laboratory, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel., Roifman CM; Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; The Canadian Centre for Primary Immunodeficiency and The Jeffrey Modell Research Laboratory for the diagnosis of Primary Immunodeficiency, The Hospital for Sick Children, Toronto, Ontario, Canada.

Publikováno v: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology [Pediatr Allergy Immunol] 2022 Jan; Vol. 33 (1), pp. e13694. Date of Electronic Publication: 2021 Nov 18.