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

T. Le Voyer, AV. Parent, X. Liu, A. Cederholm, A. Gervais, J. Rosain, T. Nguyen, M. Perez Lorenzo, E. Rackaityte, D. Rinchai, P. Zhang, L. Bizien, G. Hancioglu, P. Ghillani-Dalbin, JL. Charuel, Q. Philippot, MS. Gueye, MRL. Maglorius Renkilaraj,...

. 2023 ; 623 (7988) : 803-813. [pub] 20231108

Language English Country England, Great Britain

Document type Journal Article

Grant support
UL1 TR001866 NCATS NIH HHS - United States
R01 AI088364 NIAID NIH HHS - United States
R01 AI127564 NIAID NIH HHS - United States
R01 AI163029 NIAID NIH HHS - United States
K01 AG072789 NIA NIH HHS - United States

Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs)1,2, conferring a predisposition to life-threatening COVID-19 pneumonia3. Here we report that patients with autosomal recessive NIK or RELB deficiency, or a specific type of autosomal-dominant NF-κB2 deficiency, also have neutralizing autoantibodies against type I IFNs and are at higher risk of getting life-threatening COVID-19 pneumonia. In patients with autosomal-dominant NF-κB2 deficiency, these autoantibodies are found only in individuals who are heterozygous for variants associated with both transcription (p52 activity) loss of function (LOF) due to impaired p100 processing to generate p52, and regulatory (IκBδ activity) gain of function (GOF) due to the accumulation of unprocessed p100, therefore increasing the inhibitory activity of IκBδ (hereafter, p52LOF/IκBδGOF). By contrast, neutralizing autoantibodies against type I IFNs are not found in individuals who are heterozygous for NFKB2 variants causing haploinsufficiency of p100 and p52 (hereafter, p52LOF/IκBδLOF) or gain-of-function of p52 (hereafter, p52GOF/IκBδLOF). In contrast to patients with APS-1, patients with disorders of NIK, RELB or NF-κB2 have very few tissue-specific autoantibodies. However, their thymuses have an abnormal structure, with few AIRE-expressing medullary thymic epithelial cells. Human inborn errors of the alternative NF-κB pathway impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases.

Allergy and Clinical Immunology Department of Experimental and Clinical Medicine University of Florence Florence Italy

Anna Children's Cancer Research Institute Vienna Austria

Anna Children's Hospital Vienna Austria

CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria

Center for Chronic Immunodeficiency Medical Center University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany

Center for Molecular Medicine Department of Medicine Karolinska Institute Stockholm Sweden

Centre d'Immunologie et des Maladies Infectieuses Sorbonne Université INSERM U1135 Paris France

Centre for Cardiovascular Surgery and Transplantation Medical Faculty Masaryk University Brno Czech Republic

Centre Hospitalier Universitaire Estaing Clermont Ferrand France

Chan Zuckerberg Biohub San Francisco CA USA

Children's Haemopoietic Stem Cell Transplant Unit Great North Children's Hospital Newcastle upon Tyne Hospital NHS Foundation Trust Newcastle upon Tyne UK

CHU Marseille Hôpital La Timone Service d'Hémato oncologie Pédiatrique Assistance Publique Hôpitaux de Marseille Marseille France

CIRI Université de Lyon Université Claude Bernard Lyon 1 INSERM U1111 CNRS UMR5308 ENS Lyon Université Jean Monnet de Saint Etienne Lyon France

Clinical and Diagnostic Immunology Department of Microbiology Immunology and Transplantation KU Leuven Leuven Belgium

Clinical Immunogenomics Research Consortium Australasia Darlinghurst New South Wales Australia

Clinical Immunology Department Saint Louis Hospital Paris France

CNR IRGB Milan Unit Milan Italy

CNRS UMR 5308 ENS UCBL Lyon France

Department of Allergy and Immunology University of Medical Science Antalya Education and Research Hospital Antalya Turkey

Department of Anatomical Pathology The Alfred Hospital Prahran Victoria Australia

Department of Anesthesiology and Reanimation Selcuk University Faculty of Medicine Konya Turkey

Department of Biochemistry and Biophysics University of California San Francisco San Francisco CA USA

Department of Biochemistry and Medical Genetics Rady Faculty of Health Sciences University of Manitoba Winnipeg Manitoba Canada

Department of Biosciences and Nutrition Karolinska Institutet Stockholm Sweden

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

Department of Clinical Biochemistry and Immunology Addenbrooke's Hospital Cambridge UK

Department of Clinical Genetics Uppsala University Hospital Uppsala Sweden

Department of Clinical Immunology and Internal Medicine National Reference Center for Autoimmune Diseases Strasbourg University Hospital Strasbourg France

Department of Endocrinology Metabolism and Diabetes Karolinska University Hospital Stockholm Sweden

Department of Immunology 2nd Faculty of Medicine Charles University and Motol University Hospital Prague Czech Republic

Department of Immunology Allergy and HIV St Vincent's Hospital Sydney New South Wales Australia

Department of Immunology AP HP Pitié Salpêtrière Hospital Paris France

Department of Immunology Genetics and Pathology Section of Clinical Genetics Uppsala University and University Hospital Uppsala Sweden

Department of Internal Medicine and Infectious Diseases Bordeaux Hospital University Bordeaux France

Department of Internal Medicine Edouard Herriot Hospital Lyon France

Department of Internal Medicine Hôpital Michallon CHU de Grenoble Alpes Grenoble France

Department of Medicine University of California San Francisco San Francisco CA USA

Department of Paediatrics Faculty of Medicine Comenius University Bratislava Bratislava Slovakia

Department of Pathology and Laboratory Medicine Nationwide Children's Hospital Columbus OH USA

Department of Pediatric Hematology Oncology and Immunodeficiencies University Children's Hospital Gießen Giessen Germany

Department of Pediatric Hematology Toulouse University Hospital Toulouse France

Department of Pediatric Immunology and Allergy Ankara University School of Medicine Ankara Turkey

Department of Pediatric Immunology Hematology and Rheumatology Necker Enfants Malades Hospital AP HP Paris France

Department of Pediatric Immunology Rheumatology and Infectious Diseases Emma Children's Hospital Amsterdam University Medical Center University of Amsterdam Amsterdam The Netherlands

Department of Pediatric Infectious Diseases Faculty of Medicine Selcuk University Konya Turkey

Department of Pediatrics and Adolescent Medicine Medical University of Vienna Vienna Austria

Department of Pediatrics and Public Health Università degli Studi di Torino Turin Italy

Department of Pediatrics Facultad de Medicina Clinica Alemana Universidad del Desarrollo Santiago Chile

Department of Pediatrics Necker Hospital for Sick Children Paris France

Department of Pediatrics Universitätsklinikum Carl Gustav Carus Technische Universität Dresden Dresden Germany

Department of Rheumatology and Clinical Immunology Medical Center University of Freiburg Faculty of Medicine University of Freiburg Freiburg Germany

Department of Rheumatology and Immunology Hannover Medical School Hannover Germany

Departments of Medicine and Pediatrics Mount Sinai School of Medicine New York NY USA

Dept Clinical Immunology and Allergy The Royal Melbourne Hospital Parkville Australia

Dept Medical Biology University of Melbourne Victoria Parkville Australia

Diabetes Center University of California San Francisco San Francisco CA USA

Division of Allergy and Clinical Immunology Department of Pediatrics Tehran University of Medical Sciences Tehran Iran

Division of Allergy and Immunology Children's National Medical Center Washington DC USA

Division of Allergy and Immunology Nationwide Children's Hospital The Ohio State University College of Medicine Columbus OH USA

Division of Immunology and Allergy Department of Paediatrics Hospital for Sick Children and University of Toronto Toronto Ontario Canada

Division of Immunology Department of Medical Biochemistry and Biophysics Karolinska Institutet Stockholm Sweden

Division of Pediatric Allergy and Immunology Meram Medical Faculty Necmettin Erbakan University Konya Turkey

Division of Pediatric Allergy and Immunology Ondokuz Mayıs University Faculty of Medicine Samsun Turkey

Division of Pediatric Clinical Immunology and Allergy Department of Pediatrics and Child Health University of Manitoba Winnipeg Manitoba Canada

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

Division of Pediatric Immunology and Rheumatology Department of Pediatrics Dr von Hauner Children's Hospital University Hospital Ludwig Maximilians Universität München Munich Germany

Dr Shahrooei Lab Tehran Iran

Faculty of Medicine University of Sydney Sydney New South Wales Australia

French National Reference Center for Primary Immunodeficiencies Paris France

Garvan Institute of Medical Research Sydney New South Wales Australia

Hospital de Niños Roberto del Río Santiago Chile

Howard Hughes Medical Institute New York NY USA

Immunology and Allergy Queensland Children's Hospital South Brisbane Queensland Australia

Immunology and Allergy University of Western Sydney and Campbelltown Hospital Campbelltown New South Wales Australia

Immunology and Infectious Diseases Sydney Children's Hospital Randwick Western Sydney University Campbelltown New South Wales Australia

Immunology Division Walter and Eliza Hall Institute Melbourne Victoria Australia

Immunology Service Department of Laboratory Medicine Clinical Center National Institutes of Health Bethesda MD USA

Immunopathology Federation LIFE Hospices Civils de Lyon Lyon France

Institute for Immunodeficiency Center for Chronic Immunodeficiencies Medical Center University Hospital Freiburg and Faculty of Medicine Albert Ludwigs University Freiburg Germany

Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany

Internal Medicine Clinical Immunology and Infectious Diseases Department University Hospital Center Reims France

Internal Medicine Department Pitié Salpêtrière Hospital Paris France

IRCCS Humanitas Research Hospital Rozzano Italy

IRMAIC EA 7509 URCA Reims France

Joint Unit Hospices Civils de Lyon BioMérieux Lyon France

Laboratory of Clinical Immunology and Microbiology Division of Intramural Research National Institute of Allergy and Infectious Diseases National Institutes of Health Bethesda MD USA

Laboratory of Human Genetics of Infectious Diseases Necker Branch INSERM UMR1163 Paris France

Laboratory of Immunogenetics of Pediatric Autoimmune Diseases Paris Cité University Imagine Institute INSERM UMR1163 Paris France

Laboratory of Lymphocyte Activation and Susceptibility to EBV Paris Cité University Imagine Institute Inserm UMR1163 Paris France

National Reference Center for Rheumatic Autoimmune and Systemic Diseases in Children Lyon France

NIAID Clinical Genomics Program NIH Laboratory of Clinical Immunology and Microbiology Division of Intramural Research NIAID NIH Bethesda MD USA

Paris Cité University Imagine Institute Paris France

Paris Cité University Paris France

Pediatric Clinic Fondazione IRCCS Policlinico San Matteo Pavia Italy

Pediatric Department E Wolfson Medical Center Tel Aviv University Tel Aviv Israel

Pediatric Oncology Hematology Unit University Hospital Plurithématique CIC 1401 Bordeaux France

Pediatric Radiology Department Assistance Publique Hôpitaux de Paris Necker Hospital for Sick Children Paris France

Pediatric Unit Department of Clinical Surgical Diagnostic and Pediatric Sciences University of Pavia Pavia Italy

Primary Immunodeficiencies Group Department of Microbiology and Parasitology School of Medicine University of Antioquia Medellín Colombia

School of Clinical Medicine UNSW Medicine and Health Darlinghurst New South Wales Australia

Science for Life Laboratory Department of Medical Biochemistry and Microbiology Uppsala University Uppsala Sweden

Section of Microbiology University of Brescia Brescia Italy

South Western Sydney Clinical School Faculty of Medicine and Health UNSW Sydney Sydney New South Wales Australia

St Giles Laboratory of Human Genetics of Infectious Diseases Rockefeller Branch The Rockefeller University New York NY USA

Study Center for Immunodeficiencies Necker Hospital for Sick Children Paris France

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

Virology Cochin Saint Vincent de Paul Hospital University of Paris Paris France

Westmead Clinical School University of Sydney Sydney New South Wales Australia

References provided by Crossref.org

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$a Rosen, Lindsey B $u Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
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$a Holland, Steve M $u Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA $1 https://orcid.org/0000000332075464
700    1_
$a Bosticardo, Marita $u Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
700    1_
$a Kenney, Heather $u Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA
700    1_
$a Castagnoli, Riccardo $u Pediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, Pavia, Italy $u Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy $1 https://orcid.org/0000000300299383
700    1_
$a Slade, Charlotte A $u Immunology Division, Walter and Eliza Hall Institute, Melbourne, Victoria, Australia $u Dept Medical Biology, University of Melbourne, Victoria, Parkville, Australia $u Dept Clinical Immunology and Allergy, The Royal Melbourne Hospital, Parkville, Australia
700    1_
$a Boztuğ, Kaan $u CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria $u Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Vienna, Austria $u Anna Children's Cancer Research Institute, Vienna, Austria $u Anna Children's Hospital, Vienna, Austria
700    1_
$a Mahlaoui, Nizar $u French National Reference Center for Primary Immunodeficiencies (CEREDIH), Necker-Enfants University Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France $u Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France
700    1_
$a Latour, Sylvain $u Laboratory of Lymphocyte Activation and Susceptibility to EBV, Paris Cité University, Imagine Institute, Inserm UMR1163, Paris, France
700    1_
$a Abraham, Roshini S $u Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, OH, USA
700    1_
$a Lougaris, Vassilios $u 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
700    1_
$a Hauck, Fabian $u Division of Pediatric Immunology and Rheumatology, Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany $1 https://orcid.org/0000000196442003
700    1_
$a Sediva, Anna $u Department of Immunology, Second Faculty of Medicine Charles University and Motol University Hospital, Prague, Czech Republic $1 https://orcid.org/0000000177302304 $7 xx0000191
700    1_
$a Atschekzei, Faranaz $u Department of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany
700    1_
$a Sogkas, Georgios $u Department of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany
700    1_
$a Poli, M Cecilia $u Hospital de Niños Roberto del Río, Santiago, Chile $u Department of Pediatrics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile $1 https://orcid.org/0000000168170573
700    1_
$a Slatter, Mary A $u Children's Haemopoietic Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle-upon-Tyne Hospital NHS Foundation Trust, Newcastle upon Tyne, UK
700    1_
$a Palterer, Boaz $u Allergy and Clinical Immunology, Department of Experimental and Clinical Medicine, University of Florence, Florence, Italy
700    1_
$a Keller, Michael D $u Division of Allergy and Immunology, Children's National Medical Center, Washington, DC, USA
700    1_
$a Pinzon-Charry, Alberto $u Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia $u Immunology and Allergy, Queensland Children's Hospital, South Brisbane, Queensland, Australia
700    1_
$a Sullivan, Anna $u Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia $u Immunology and Allergy, Queensland Children's Hospital, South Brisbane, Queensland, Australia
700    1_
$a Droney, Luke $u Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia $u Immunology and Allergy, Queensland Children's Hospital, South Brisbane, Queensland, Australia $1 https://orcid.org/0000000221268327
700    1_
$a Suan, Daniel $u Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia $u Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia
700    1_
$a Wong, Melanie $u Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia $u Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia $u Faculty of Medicine, University of Sydney, Sydney, New South Wales, Australia
700    1_
$a Kane, Alisa $u School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia $u Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia $u South Western Sydney Clinical School, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia $u Department of Immunology, Allergy and HIV, St Vincent's Hospital, Sydney, New South Wales, Australia
700    1_
$a Hu, Hannah $u Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia $u South Western Sydney Clinical School, Faculty of Medicine and Health, UNSW Sydney, Sydney, New South Wales, Australia $u Department of Immunology, Allergy and HIV, St Vincent's Hospital, Sydney, New South Wales, Australia
700    1_
$a Ma, Cindy $u Garvan Institute of Medical Research, Sydney, New South Wales, Australia $u School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia $u Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia $1 https://orcid.org/0000000153878413
700    1_
$a Grombiříková, Hana $u Centre for Cardiovascular Surgery and Transplantation, Medical Faculty, Masaryk University, Brno, Czech Republic $1 https://orcid.org/0000000293178531 $7 xx0105241
700    1_
$a Ciznar, Peter $u Department of Paediatrics, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovakia $1 https://orcid.org/0000000305661644 $7 xx0107895
700    1_
$a Dalal, Ilan $u Pediatric Department, E. Wolfson Medical Center, Tel Aviv University, Tel Aviv, Israel
700    1_
$a Aladjidi, Nathalie $u Pediatric Oncology Hematology Unit, University Hospital, Plurithématique CIC (CICP), Centre d'Investigation Clinique (CIC) 1401, Bordeaux, France
700    1_
$a Hie, Miguel $u Internal Medicine Department, Pitié-Salpêtrière Hospital, Paris, France
700    1_
$a Lazaro, Estibaliz $u Department of Internal Medicine & Infectious Diseases, Bordeaux Hospital University, Bordeaux, France $1 https://orcid.org/0000000242067399
700    1_
$a Franco, Jose $u Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia $1 https://orcid.org/0000000156646415
700    1_
$a Keles, Sevgi $u Division of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey $1 https://orcid.org/0000000173448947
700    1_
$a Malphettes, Marion $u Clinical Immunology Department, Saint Louis Hospital, Paris, France
700    1_
$a Pasquet, Marlene $u Department of Pediatric Hematology, Toulouse University Hospital, Toulouse, France
700    1_
$a Maccari, Maria Elena $u Institute for Immunodeficiency, Center for Chronic Immunodeficiencies, Medical Center-University Hospital Freiburg, and Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany $u 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
700    1_
$a Meinhardt, Andrea $u Department of Pediatric Hematology, Oncology and Immunodeficiencies, University Children's Hospital Gießen, Giessen, Germany $1 https://orcid.org/0000000274640751
700    1_
$a Ikinciogullari, Aydan $u Department of Pediatric Immunology and Allergy, Ankara University School of Medicine, Ankara, Turkey
700    1_
$a Shahrooei, Mohammad $u Dr. Shahrooei Lab, Tehran, Iran $u Clinical and Diagnostic Immunology, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Leuven, Belgium
700    1_
$a Celmeli, Fatih $u Department of Allergy and Immunology, University of Medical Science, Antalya Education and Research Hospital, Antalya, Turkey $1 https://orcid.org/0000000229835058
700    1_
$a Frosk, Patrick $u Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada
700    1_
$a Goodnow, Christopher C $u Garvan Institute of Medical Research, Sydney, New South Wales, Australia $u School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia $u Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia $1 https://orcid.org/0000000152966155
700    1_
$a Gray, Paul E $u Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia $u Immunology and Infectious Diseases, Sydney Children's Hospital Randwick, Western Sydney University, Campbelltown, New South Wales, Australia $1 https://orcid.org/0000000320573968
700    1_
$a Belot, Alexandre $u CNRS UMR 5308, ENS, UCBL, Lyon, France $u National Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE), Lyon, France $u Immunopathology Federation LIFE, Hospices Civils de Lyon, Lyon, France $1 https://orcid.org/0000000349025332
700    1_
$a Kuehn, Hye Sun $u Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA
700    1_
$a Rosenzweig, Sergio D $u Immunology Service, Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA
700    1_
$a Miyara, Makoto $u Department of Immunology, AP-HP, Pitié-Salpêtrière Hospital, Paris, France $u Centre d'Immunologie et des Maladies Infectieuses (CIMI), Sorbonne Université, INSERM U1135, Paris, France
700    1_
$a Licciardi, Francesco $u Department of Pediatrics and Public Health, Università degli Studi di Torino, Turin, Italy
700    1_
$a Servettaz, Amélie $u Internal Medicine, Clinical Immunology and Infectious Diseases Department, University Hospital Center, Reims, France $u IRMAIC EA 7509, URCA, Reims, France
700    1_
$a Barlogis, Vincent $u CHU Marseille, Hôpital La Timone, Service d'Hémato-oncologie Pédiatrique, Assistance Publique-Hôpitaux de Marseille, Marseille, France
700    1_
$a Le Guenno, Guillaume $u Centre Hospitalier Universitaire Estaing, Clermont-Ferrand, France
700    1_
$a Herrmann, Vera-Maria $u Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
700    1_
$a Kuijpers, Taco $u Department of Pediatric Immunology, Rheumatology and Infectious Diseases, Emma Children's Hospital, Amsterdam University Medical Center, University of Amsterdam, Amsterdam, The Netherlands
700    1_
$a Ducoux, Grégoire $u Department of Internal Medicine, Edouard Herriot Hospital, Lyon, France
700    1_
$a Sarrot-Reynauld, Françoise $u Department of Internal Medicine, Hôpital Michallon, CHU de Grenoble Alpes, Grenoble, France
700    1_
$a Schuetz, Catharina $u Department of Pediatrics, Universitätsklinikum Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany
700    1_
$a Cunningham-Rundles, Charlotte $u Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA $1 https://orcid.org/0000000307250320
700    1_
$a Rieux-Laucat, Frédéric $u Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Paris Cité University, Imagine Institute, INSERM UMR1163, Paris, France $1 https://orcid.org/0000000178587866
700    1_
$a Tangye, Stuart G $u Garvan Institute of Medical Research, Sydney, New South Wales, Australia $u School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia $u Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia $1 https://orcid.org/0000000253605180
700    1_
$a Sobacchi, Cristina $u IRCCS Humanitas Research Hospital, Rozzano, Italy $u CNR-IRGB, Milan Unit, Milan, Italy
700    1_
$a Doffinger, Rainer $u Department of Clinical Biochemistry and Immunology, Addenbrooke's Hospital, Cambridge, UK
700    1_
$a Warnatz, Klaus $u Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany $u Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
700    1_
$a Grimbacher, Bodo $u Institute for Immunodeficiency, Center for Chronic Immunodeficiencies, Medical Center-University Hospital Freiburg, and Faculty of Medicine, Albert-Ludwigs-University, Freiburg, Germany $u Department of Rheumatology and Clinical Immunology, Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany
700    1_
$a Fieschi, Claire $u Clinical Immunology Department, Saint Louis Hospital, Paris, France $u Paris Cité University, Paris, France
700    1_
$a Berteloot, Laureline $u Pediatric Radiology Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France $1 https://orcid.org/0000000196813142
700    1_
$a Bryant, Vanessa L $u Immunology Division, Walter and Eliza Hall Institute, Melbourne, Victoria, Australia $u Dept Medical Biology, University of Melbourne, Victoria, Parkville, Australia $u Dept Clinical Immunology and Allergy, The Royal Melbourne Hospital, Parkville, Australia
700    1_
$a Trouillet Assant, Sophie $u Joint Unit Hospices Civils de Lyon-BioMérieux, Lyon, France $u 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
700    1_
$a Su, Helen $u Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA $u NIAID Clinical Genomics Program, NIH, Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA $1 https://orcid.org/0000000255829110
700    1_
$a Neven, Benedicte $u Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France
700    1_
$a Abel, Laurent $u Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France $u Paris Cité University, Imagine Institute, Paris, France $u St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
700    1_
$a Zhang, Qian $u Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France $u Paris Cité University, Imagine Institute, Paris, France $u St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
700    1_
$a Boisson, Bertrand $u Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France $u Paris Cité University, Imagine Institute, Paris, France $u St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA $1 https://orcid.org/0000000152403555
700    1_
$a Cobat, Aurélie $u Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France $u Paris Cité University, Imagine Institute, Paris, France $u St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA $1 https://orcid.org/0000000172096257
700    1_
$a Jouanguy, Emmanuelle $u Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France $u Paris Cité University, Imagine Institute, Paris, France $u St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA
700    1_
$a Kampe, Olle $u Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden $1 https://orcid.org/0000000160919914
700    1_
$a Bastard, Paul $u Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France $u Paris Cité University, Imagine Institute, Paris, France $u St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA $u Department of Pediatric Immunology, Hematology and Rheumatology, Necker-Enfants Malades Hospital, AP-HP, Paris, France
700    1_
$a Roifman, Chaim M $u Division of Immunology and Allergy, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada $u 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
700    1_
$a Landegren, Nils $u Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden $u Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden
700    1_
$a Notarangelo, Luigi D $u Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA $1 https://orcid.org/0000000283350262
700    1_
$a Anderson, Mark S $u Diabetes Center, University of California, San Francisco, San Francisco, CA, USA $u Department of Medicine, University of California, San Francisco, San Francisco, CA, USA $1 https://orcid.org/0000000230934758
700    1_
$a Casanova, Jean-Laurent $u Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France. casanova@rockefeller.edu $u Paris Cité University, Imagine Institute, Paris, France. casanova@rockefeller.edu $u St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. casanova@rockefeller.edu $u Howard Hughes Medical Institute, New York, NY, USA. casanova@rockefeller.edu $u Department of Pediatrics, Necker Hospital for Sick Children, Paris, France. casanova@rockefeller.edu $1 https://orcid.org/0000000277824169
700    1_
$a Puel, Anne $u Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France. anne.puel@inserm.fr $u Paris Cité University, Imagine Institute, Paris, France. anne.puel@inserm.fr $u St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. anne.puel@inserm.fr $1 https://orcid.org/0000000326030323
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