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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,...
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
NLK
Nature Journals Online
from 1997
Nature Journal Archive
from 1997
ProQuest Central
from 1990-01-04 to 1 year ago
Nursing & Allied Health Database (ProQuest)
from 1990-01-04 to 1 year ago
Health & Medicine (ProQuest)
from 1990-01-04 to 1 year ago
Psychology Database (ProQuest)
from 1990-01-04 to 1 year ago
Public Health Database (ProQuest)
from 1990-01-04 to 1 year ago
- MeSH
- Gain of Function Mutation MeSH
- Autoantibodies * immunology MeSH
- COVID-19 genetics immunology MeSH
- Thyroid Epithelial Cells metabolism pathology MeSH
- Genetic Predisposition to Disease * MeSH
- Heterozygote MeSH
- Interferon Type I * antagonists & inhibitors immunology MeSH
- NF-kappaB-Inducing Kinase MeSH
- Humans MeSH
- Loss of Function Mutation MeSH
- NF-kappa B p52 Subunit deficiency genetics MeSH
- NF-kappa B * deficiency genetics MeSH
- AIRE Protein MeSH
- I-kappa B Proteins deficiency genetics MeSH
- Thymus Gland abnormalities immunology pathology MeSH
- Pneumonia, Viral genetics immunology MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
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.
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 Molecular Medicine Department of Medicine Karolinska Institute Stockholm Sweden
Centre d'Immunologie et des Maladies Infectieuses Sorbonne Université INSERM U1135 Paris France
Centre Hospitalier Universitaire Estaing Clermont Ferrand France
Chan Zuckerberg Biohub San Francisco CA USA
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 Anatomical Pathology The Alfred Hospital Prahran Victoria Australia
Department of Anesthesiology and Reanimation Selcuk University Faculty of Medicine Konya Turkey
Department of Biosciences and Nutrition Karolinska Institutet Stockholm Sweden
Department of Clinical Biochemistry and Immunology Addenbrooke's Hospital Cambridge UK
Department of Clinical Genetics Uppsala University Hospital Uppsala Sweden
Department of Endocrinology Metabolism and Diabetes Karolinska University Hospital Stockholm Sweden
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 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 Toulouse University Hospital Toulouse France
Department of Pediatric Immunology and Allergy Ankara University School of Medicine Ankara Turkey
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 Necker Hospital for Sick Children Paris France
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 Immunology Children's National Medical Center Washington DC USA
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 Division Walter and Eliza Hall Institute Melbourne Victoria Australia
Immunopathology Federation LIFE Hospices Civils de Lyon Lyon France
Institute of Human Genetics University of Leipzig Medical Center Leipzig Germany
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 Human Genetics of Infectious Diseases Necker Branch INSERM UMR1163 Paris France
National Reference Center for Rheumatic Autoimmune and Systemic Diseases in Children Lyon France
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
School of Clinical Medicine UNSW Medicine and Health Darlinghurst New South Wales Australia
Section of Microbiology University of Brescia Brescia Italy
Study Center for Immunodeficiencies Necker Hospital for Sick Children Paris France
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 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.
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- $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_
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- 700 1_
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- 700 1_
- $a Herrmann, Vera-Maria $u Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany
- 700 1_
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- 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_
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