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

Humans Autoantibodies / immunology COVID-19 / genetics Gain of Function Mutation Genetic Predisposition to Disease Heterozygote I-kappa B Proteins / deficiency Interferon Type I / antagonists & inhibitors Loss of Function Mutation NF-kappa B / deficiency NF-kappa B p52 Subunit / deficiency Pneumonia, Viral / genetics Thymus Gland / abnormalities Thyroid Epithelial Cells / metabolism AIRE Protein NF-kappaB-Inducing Kinase

Journal

Nature
ISSN: 1476-4687
Titre abrégé: Nature
Pays: England
ID NLM: 0410462

Informations de publication

Date de publication:
Nov 2023
Historique:
received: 05 12 2022
accepted: 04 10 2023
medline: 27 11 2023
pubmed: 8 11 2023
entrez: 8 11 2023
Statut: ppublish

Résumé

Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs)

Identifiants

DOI: 10.1038/s41586-023-06717-x PMID: 37938781 PMC: PMC10665196
pubmed: 37938781
doi: 10.1038/s41586-023-06717-x
pii: 10.1038/s41586-023-06717-x
pmc: PMC10665196
doi:

Substances chimiques

Autoantibodies 0
I-kappa B Proteins 0
Interferon Type I 0
NF-kappa B 0
NF-kappa B p52 Subunit 0
RELB protein, human 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

803-813

Subventions

Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI088364
Pays : United States
Organisme : Medical Research Council
ID : MR/S032304/1
Pays : United Kingdom
Organisme : NIAID NIH HHS
ID : R01 AI127564
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI163029
Pays : United States
Organisme : NIA NIH HHS
ID : K01 AG072789
Pays : United States

Investigateurs

Stéphanie Boisson-Dupuis (S)
Eric Oksenhendler (E)
Satoshi Okada (S)
Oana Caluseriu (O)
Mathilde Valeria Ursini (MV)
Eric Ballot (E)
Geoffroy Lafarge (G)
Tomas Freiberger (T)
Carlos A Arango-Franco (CA)
Romain Levy (R)
Alessandro Aiuti (A)
Saleh Al-Muhsen (S)
Fahd Al-Mulla (F)
Evangelos Andreakos (E)
Andrés A Arias (AA)
Hagit Baris Feldman (HB)
Paul Bastard (P)
Anastasia Bondarenko (A)
Alessandro Borghesi (A)
Ahmed A Bousfiha (AA)
Petter Brodin (P)
Yenan Bryceson (Y)
Giorgio Casari (G)
John Christodoulou (J)
Roger Colobran (R)
Antonio Condino-Neto (A)
Jacques Fellay (J)
Carlos Flores (C)
José Luis Franco (JL)
Filomeen Haerynck (F)
Rabih Halwani (R)
Lennart Hammarström (L)
James R Heath (JR)
Elena W Y Hsieh (EWY)
Yuval Itan (Y)
Elżbieta Kaja (E)
Kai Kisand (K)
Cheng-Lung Ku (CL)
Yun Ling (Y)
Yu-Lung Lau (YL)
Davood Mansouri (D)
Isabelle Meyts (I)
Joshua D Milner (JD)
Trine H Mogensen (TH)
Antonio Novelli (A)
Giuseppe Novelli (G)
Keisuke Okamoto (K)
Tayfun Ozcelik (T)
Rebeca Perez de Diego (RP)
Jordi Perez-Tur (J)
David S Perlin (DS)
Carolina Prando (C)
Aurora Pujol (A)
Lluis Quintana-Murci (L)
Laurent Renia (L)
Igor Resnick (I)
Carlos Rodríguez-Gallego (C)
Vanessa Sancho-Shimizu (V)
Anna Sediva (A)
Mikko R J Seppänen (MRJ)
Mohammed Shahrooei (M)
Anna Shcherbina (A)
Pere Soler Palacín (PS)
Graziano Pesole (G)
András N Spaan (AN)
Helen C Su (HC)
Ivan Tancevski (I)
Ahmad Abou Tayoun (AA)
Ali Amara (A)
Guy Gorochov (G)
Şehime Gülsün Temel (ŞG)
Christian Thorball (C)
Pierre Tiberghien (P)
Sophie Trouillet-Assant (S)
Stuart Turvey (S)
K M Furkan Uddin (KMF)
Mohammed J Uddin (MJ)
Diederik van de Beek (D)
Mateus Vidigal (M)
Donald C Vinh (DC)
Horst von Bernuth (H)
Joost Wauters (J)
Mayana Zatz (M)
Shen-Ying Zhang (SY)
Lisa F P Ng (LFP)

Informations de copyright

© 2023. The Author(s).

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Auteurs

Tom 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.
ORCID: 0000-0002-7253-3135

Audrey V Parent (AV)

Diabetes Center, University of California, San Francisco, San Francisco, CA, USA.
ORCID: 0000-0003-4506-6268

Xian Liu (X)

Diabetes Center, University of California, San Francisco, San Francisco, CA, USA.

Axel Cederholm (A)

Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.
ORCID: 0009-0006-5973-9637

Adrian Gervais (A)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
Paris Cité University, Imagine Institute, Paris, France.

Jérémie 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.

Tina Nguyen (T)

Garvan Institute of Medical Research, Sydney, New South Wales, Australia.
School of Clinical Medicine, UNSW Medicine & Health, Darlinghurst, New South Wales, Australia.

Malena Perez Lorenzo (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
Paris Cité University, Imagine Institute, Paris, France.
ORCID: 0000-0002-7933-5211

Elze Rackaityte (E)

Department of Biochemistry and Biophysics, University of California San Francisco, San Francisco, CA, USA.
ORCID: 0000-0003-3889-8082

Darawan Rinchai (D)

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

Peng Zhang (P)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
ORCID: 0000-0002-6129-567X

Lucy Bizien (L)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
Paris Cité University, Imagine Institute, Paris, France.

Gonca Hancioglu (G)

Division of Pediatric Allergy and Immunology, Ondokuz Mayıs University Faculty of Medicine, Samsun, Turkey.
ORCID: 0000-0003-4221-6232

Pascale Ghillani-Dalbin (P)

Department of Immunology, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.

Jean-Luc Charuel (JL)

Department of Immunology, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.

Quentin Philippot (Q)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
Paris Cité University, Imagine Institute, Paris, France.

Mame Sokhna Gueye (MS)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
Paris Cité University, Imagine Institute, Paris, France.
ORCID: 0000-0002-5533-7757

Majistor Raj Luxman Maglorius Renkilaraj (MRL)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
Paris Cité University, Imagine Institute, Paris, France.

Masato Ogishi (M)

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

Camille Soudée (C)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
Paris Cité University, Imagine Institute, Paris, France.

Mélanie Migaud (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
Paris Cité University, Imagine Institute, Paris, France.
ORCID: 0000-0003-3062-1214

Flore Rozenberg (F)

Virology, Cochin-Saint-Vincent de Paul Hospital, University of Paris, Paris, France.

Mana Momenilandi (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
Paris Cité University, Imagine Institute, Paris, France.

Quentin Riller (Q)

Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Paris Cité University, Imagine Institute, INSERM UMR1163, Paris, France.
ORCID: 0000-0003-3323-0235

Luisa Imberti (L)

Section of Microbiology, University of Brescia, Brescia, Italy.

Ottavia M 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.

Gabriele 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.

Baerbel 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.

Julio Orrego (J)

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

William Alexander Franco Gallego (WA)

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

Tamar Rubin (T)

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

Melike Emiroglu (M)

Department of Pediatric Infectious Diseases, Faculty of Medicine, Selcuk University, Konya, Turkey.
ORCID: 0000-0003-1307-0246

Nima Parvaneh (N)

Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.
ORCID: 0000-0002-3397-9716

Daniel 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.

Maribel Aranda-Guillen (M)

Center for Molecular Medicine, Department of Medicine (Solna), Karolinska Institute, Stockholm, Sweden.
ORCID: 0000-0003-0050-704X

David I Berrios (DI)

Diabetes Center, University of California, San Francisco, San Francisco, CA, USA.

Linda 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.

Constance H Katelaris (CH)

Immunology and Allergy, University of Western Sydney and Campbelltown Hospital, Campbelltown, New South Wales, Australia.
ORCID: 0000-0002-4412-1336

Peter Mustillo (P)

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

Johannes 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.
ORCID: 0000-0003-0979-7274

Jonathan Bohlen (J)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Paris, France.
Paris Cité University, Imagine Institute, Paris, France.
ORCID: 0000-0003-0458-9484

Jale Bengi Celik (J)

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

Camila Astudillo (C)

Hospital de Niños Roberto del Río, Santiago, Chile.
Department of Pediatrics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile.

Sarah Winter (S)

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

Catriona McLean (C)

Department of Anatomical Pathology, The Alfred Hospital, Prahran, Victoria, Australia.

Aurélien Guffroy (A)

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

Joseph L DeRisi (JL)

Department of Biochemistry and Biophysics, University of California San Francisco, San Francisco, CA, USA.
Chan Zuckerberg Biohub, San Francisco, CA, USA.

David Yu (D)

Diabetes Center, University of California, San Francisco, San Francisco, CA, USA.

Corey Miller (C)

Diabetes Center, University of California, San Francisco, San Francisco, CA, USA.
ORCID: 0000-0002-1291-0074

Yi Feng (Y)

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

Audrey Guichard (A)

Joint Unit Hospices Civils de Lyon-BioMérieux, Lyon, France.

Vivien 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.
ORCID: 0000-0002-4020-824X

Jacinta 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.

Qiang 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.
ORCID: 0000-0003-1990-8804

Yu 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.

Lindsey B 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.

Steve M 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.
ORCID: 0000-0003-3207-5464

Marita 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.

Heather 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.

Riccardo 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.
ORCID: 0000-0003-0029-9383

Charlotte A 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.

Kaan 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.

Nizar 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.

Sylvain Latour (S)

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

Roshini S Abraham (RS)

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

Vassilios 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.

Fabian 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.
ORCID: 0000-0001-9644-2003

Anna Sediva (A)

Department of Immunology, Second Faculty of Medicine Charles University and Motol University Hospital, Prague, Czech Republic.
ORCID: 0000-0001-7730-2304

Faranaz Atschekzei (F)

Department of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany.

Georgios Sogkas (G)

Department of Rheumatology and Immunology, Hannover Medical School, Hannover, Germany.

M Cecilia Poli (MC)

Hospital de Niños Roberto del Río, Santiago, Chile.
Department of Pediatrics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile.
ORCID: 0000-0001-6817-0573

Mary A 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.

Boaz Palterer (B)

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

Michael D Keller (MD)

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

Alberto 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.

Anna Sullivan (A)

Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.
Immunology and Allergy, Queensland Children's Hospital, South Brisbane, Queensland, Australia.

Luke Droney (L)

Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.
Immunology and Allergy, Queensland Children's Hospital, South Brisbane, Queensland, Australia.
ORCID: 0000-0002-2126-8327

Daniel Suan (D)

Clinical Immunogenomics Research Consortium Australasia (CIRCA), Darlinghurst, New South Wales, Australia.
Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.

Melanie 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.

Alisa 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.

Hannah 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.

Cindy 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.
ORCID: 0000-0001-5387-8413

Hana Grombiříková (H)

Centre for Cardiovascular Surgery and Transplantation, Medical Faculty, Masaryk University, Brno, Czech Republic.
ORCID: 0000-0002-9317-8531

Peter Ciznar (P)

Department of Paediatrics, Faculty of Medicine, Comenius University Bratislava, Bratislava, Slovakia.
ORCID: 0000-0003-0566-1644

Ilan Dalal (I)

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

Nathalie Aladjidi (N)

Pediatric Oncology Hematology Unit, University Hospital, Plurithématique CIC (CICP), Centre d'Investigation Clinique (CIC) 1401, Bordeaux, France.

Miguel Hie (M)

Internal Medicine Department, Pitié-Salpêtrière Hospital, Paris, France.

Estibaliz Lazaro (E)

Department of Internal Medicine & Infectious Diseases, Bordeaux Hospital University, Bordeaux, France.
ORCID: 0000-0002-4206-7399

Jose Franco (J)

Primary Immunodeficiencies Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.
ORCID: 0000-0001-5664-6415

Sevgi Keles (S)

Division of Pediatric Allergy and Immunology, Meram Medical Faculty, Necmettin Erbakan University, Konya, Turkey.
ORCID: 0000-0001-7344-8947

Marion Malphettes (M)

Clinical Immunology Department, Saint Louis Hospital, Paris, France.

Marlene Pasquet (M)

Department of Pediatric Hematology, Toulouse University Hospital, Toulouse, France.

Maria Elena 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.

Andrea Meinhardt (A)

Department of Pediatric Hematology, Oncology and Immunodeficiencies, University Children's Hospital Gießen, Giessen, Germany.
ORCID: 0000-0002-7464-0751

Aydan Ikinciogullari (A)

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

Mohammad Shahrooei (M)

Dr. Shahrooei Lab, Tehran, Iran.
Clinical and Diagnostic Immunology, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Leuven, Belgium.

Fatih Celmeli (F)

Department of Allergy and Immunology, University of Medical Science, Antalya Education and Research Hospital, Antalya, Turkey.
ORCID: 0000-0002-2983-5058

Patrick Frosk (P)

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

Christopher C 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.
ORCID: 0000-0001-5296-6155

Paul E 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.
ORCID: 0000-0003-2057-3968

Alexandre 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.
ORCID: 0000-0003-4902-5332

Hye Sun Kuehn (HS)

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

Sergio D Rosenzweig (SD)

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

Makoto 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.

Francesco Licciardi (F)

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

Amélie Servettaz (A)

Internal Medicine, Clinical Immunology and Infectious Diseases Department, University Hospital Center, Reims, France.
IRMAIC EA 7509, URCA, Reims, France.

Vincent Barlogis (V)

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

Guillaume Le Guenno (G)

Centre Hospitalier Universitaire Estaing, Clermont-Ferrand, France.

Vera-Maria Herrmann (VM)

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

Taco Kuijpers (T)

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

Grégoire Ducoux (G)

Department of Internal Medicine, Edouard Herriot Hospital, Lyon, France.

Françoise Sarrot-Reynauld (F)

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

Catharina Schuetz (C)

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

Charlotte Cunningham-Rundles (C)

Departments of Medicine and Pediatrics, Mount Sinai School of Medicine, New York, NY, USA.
ORCID: 0000-0003-0725-0320

Frédéric Rieux-Laucat (F)

Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Paris Cité University, Imagine Institute, INSERM UMR1163, Paris, France.
ORCID: 0000-0001-7858-7866

Stuart G 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.
ORCID: 0000-0002-5360-5180

Cristina Sobacchi (C)

IRCCS Humanitas Research Hospital, Rozzano, Italy.
CNR-IRGB, Milan Unit, Milan, Italy.

Rainer Doffinger (R)

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

Klaus 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.

Bodo 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.

Claire Fieschi (C)

Clinical Immunology Department, Saint Louis Hospital, Paris, France.
Paris Cité University, Paris, France.

Laureline Berteloot (L)

Pediatric Radiology Department, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France.
ORCID: 0000-0001-9681-3142

Vanessa L 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.

Sophie 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.

Helen 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.
ORCID: 0000-0002-5582-9110

Benedicte Neven (B)

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

Laurent 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.

Qian 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.

Bertrand 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.
ORCID: 0000-0001-5240-3555

Aurélie 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.
ORCID: 0000-0001-7209-6257

Emmanuelle 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.

Olle Kampe (O)

Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden.
ORCID: 0000-0001-6091-9914

Paul 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.

Chaim M 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.

Nils 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.

Luigi D 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.
ORCID: 0000-0002-8335-0262

Mark S 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.
ORCID: 0000-0002-3093-4758

Jean-Laurent 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.
ORCID: 0000-0002-7782-4169

Anne 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.
ORCID: 0000-0003-2603-0323

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Autoantibodies against type I IFNs in humans...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Globulines › Sérum-globulines › Immunoglobulines › Anticorps › Autoanticorps › Autoantibodies against type I IFNs in humans...
questionsmedicales.fr › Maladies de l'appareil respiratoire › Infections de l'appareil respiratoire › Pneumopathie infectieuse › Pneumopathie virale › COVID-19 › Autoantibodies against type I IFNs in humans...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation gain de fonction › Autoantibodies against type I IFNs in humans...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Prédisposition génétique à une maladie › Autoantibodies against type I IFNs in humans...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Hétérozygote › Autoantibodies against type I IFNs in humans...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Protéines I-kappa B › Autoantibodies against type I IFNs in humans...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Cytokines › Interférons › Interféron de type I › Autoantibodies against type I IFNs in humans...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation perte de fonction › Autoantibodies against type I IFNs in humans...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteur de transcription NF-kappa B › Autoantibodies against type I IFNs in humans...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteur de transcription NF-kappa B › Sous-unité p52 de NF-kappa B › Autoantibodies against type I IFNs in humans...
questionsmedicales.fr › Maladies de l'appareil respiratoire › Infections de l'appareil respiratoire › Pneumopathie infectieuse › Pneumopathie virale › Autoantibodies against type I IFNs in humans...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Système lymphatique › Tissu lymphoïde › Thymus (glande) › Autoantibodies against type I IFNs in humans...
questionsmedicales.fr › Cellules › Cellules épithéliales › Cellules épithéliales thyroïdiennes › Autoantibodies against type I IFNs in humans...