Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.

Humans Interferon Type I / immunology Female Autoantibodies / immunology Thymus Gland / immunology Child Incontinentia Pigmenti / immunology Child, Preschool I-kappa B Kinase / genetics Virus Diseases / immunology Infant Adult Adolescent Young Adult

Journal

The Journal of experimental medicine
ISSN: 1540-9538
Titre abrégé: J Exp Med
Pays: United States
ID NLM: 2985109R

Informations de publication

Date de publication:
04 Nov 2024
Historique:
received: 06 07 2023
revised: 17 07 2024
accepted: 27 08 2024
medline: 1 10 2024
pubmed: 1 10 2024
entrez: 1 10 2024
Statut: ppublish

Résumé

Human inborn errors of thymic T cell tolerance underlie the production of autoantibodies (auto-Abs) neutralizing type I IFNs, which predispose to severe viral diseases. We analyze 131 female patients with X-linked dominant incontinentia pigmenti (IP), heterozygous for loss-of-function (LOF) NEMO variants, from 99 kindreds in 10 countries. Forty-seven of these patients (36%) have auto-Abs neutralizing IFN-α and/or IFN-ω, a proportion 23 times higher than that for age-matched female controls. This proportion remains stable from the age of 6 years onward. On imaging, female patients with IP have a small, abnormally structured thymus. Auto-Abs against type I IFNs confer a predisposition to life-threatening viral diseases. By contrast, patients with IP lacking auto-Abs against type I IFNs are at no particular risk of viral disease. These results suggest that IP accelerates thymic involution, thereby underlying the production of auto-Abs neutralizing type I IFNs in at least a third of female patients with IP, predisposing them to life-threatening viral diseases.

Identifiants

DOI: 10.1084/jem.20231152 PMID: 39352576
pubmed: 39352576
pii: 277003
doi: 10.1084/jem.20231152
pii:
doi:

Substances chimiques

Interferon Type I 0
Autoantibodies 0
I-kappa B Kinase EC 2.7.11.10
IKBKG protein, human 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Institut National de la Santé et de la Recherche Médicale
Organisme : Paris Cité University
Organisme : St. Giles Foundation
Organisme : Rockefeller University
Organisme : Howard Hughes Medical Institute
Pays : United States
Organisme : NCRR NIH HHS
ID : UL1TR001866
Pays : United States
Organisme : National Center for Advancing Sciences
Organisme : NIH HHS
ID : R01AI163029
Pays : United States
Organisme : National Institute of Allergy and Infectious Diseases
Organisme : General Atlantic Foundation
Organisme : Chan-Zuckerberg Biohub
Organisme : French National Research Agency
ID : ANR-10-IAHU-01
Organisme : French Foundation for Medical Research
ID : EQU201903007798
Organisme : European Union's Horizon 2020 research and innovation program
ID : 824110
Organisme : HORIZON-HLTH-2021-DISEASE-04
ID : 101057100
Organisme : Square Foundation
Organisme : Grandir - Fonds de solidarité pour l'enfance
Organisme : SCOR Corporate Foundation for Science
Organisme : French Ministry of Higher Education, Research, and Innovation
Organisme : Japan Society for the Promotion of Science
ID : 22H03041
Organisme : Japan Agency for Medical Research and Development
ID : JP22fk0108514
Organisme : Sidra Medicine
Organisme : Qatar National Research Fund
ID : NPRP9-251-3-045
Organisme : Bettencourt-Schueller Foundation
Organisme : Swedish Research Council
ID : 2021-03118
Organisme : Göran Gustafsson Foundation
ID : 2141
Organisme : Next Generation EU-MUR PNRR
ID : PE00000007
Organisme : University Grenoble Alpes
ID : ANR-17-EURE-0003
Organisme : Association Incontinentia Pigmenti France
Organisme : Filière Santé Maladies Rares Dermatologiques
Organisme : Imagine Institute

Informations de copyright

© 2024 Rosain et al.

Auteurs

Jérémie Rosain (J)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France.
ORCID: 0000-0002-2822-161X

Tom Le Voyer (T)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Clinical Immunology Department, AP-HP, Saint-Louis Hospital, Paris, France.
ORCID: 0000-0002-7253-3135

Xian Liu (X)

Diabetes Center, University of California San Francisco , San Francisco, CA, USA.
ORCID: 0000-0001-6546-3725

Adrian Gervais (A)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0000-0002-1083-5787

Laura Polivka (L)

Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France.
Reference Center for Mastocytosis (CEREMAST), Necker Hospital for Sick Children, AP-HP , Paris, France.
ORCID: 0000-0002-5142-6234

Axel Cederholm (A)

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

Laureline Berteloot (L)

Pediatric Radiology Department, Necker Hospital for Sick Children, Imagine Inserm Institute, U1163, AP-HP, Paris, France.
ORCID: 0000-0001-9681-3142

Audrey V Parent (AV)

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

Alessandra Pescatore (A)

Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR , Naples, Italy.
ORCID: 0000-0001-8453-8198

Ezia Spinosa (E)

Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR , Naples, Italy.
ORCID: 0009-0000-4358-557X

Snezana Minic (S)

Clinics of Dermatovenerology, Clinical Center of Serbia , Belgrade, Serbia.
School of Medicine, University of Belgrade , Belgrade, Serbia.
ORCID: 0000-0003-2185-9749

Ana Elisa Kiszewski (AE)

Section of Dermatology, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.
Section of Pediatric Dermatology, Hospital da Criança Santo Antônio, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Brazil.
ORCID: 0000-0002-6287-6302

Miyuki Tsumura (M)

Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan.
ORCID: 0000-0002-8272-9588

Chloé Thibault (C)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0000-0002-9420-4180

Maria Esnaola Azcoiti (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0000-0002-1499-1015

Jelena Martinovic (J)

Unit of Fetal Pathology, Hospital Antoine Béclère, Paris Saclay University , Paris, France.
ORCID: 0000-0003-4595-7271

Quentin Philippot (Q)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0000-0003-3429-9605

Taushif Khan (T)

Department of Immunology, Sidra Medicine, Doha, Qatar.
ORCID: 0000-0002-7917-8965

Astrid Marchal (A)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0000-0003-0648-8126

Bénédicte Charmeteau-De Muylder (B)

University of Paris Cité, CNRS, Inserm, Institut Cochin , Paris, France.
ORCID: 0009-0009-2692-781X

Lucy Bizien (L)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0000-0001-9163-9122

Caroline Deswarte (C)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0000-0002-8775-3368

Lillia Hadjem (L)

Immunophenomics Center (CIPHE), Aix Marseille University, Inserm, CNRS , Marseille, France.
ORCID: 0009-0003-6990-5887

Marie-Odile Fauvarque (MO)

University Grenoble Alpes, CEA, Inserm , BGE UA13, Grenoble, France.
ORCID: 0000-0001-5020-3701

Karim Dorgham (K)

Sorbonne University, Inserm, Centre for Immunology and Microbial Infections, CIMI-Paris , Paris, France.
ORCID: 0000-0001-9539-3203

Daniel Eriksson (D)

Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
ORCID: 0000-0001-5473-3312

Emilia Liana Falcone (EL)

Center for Immunity, Inflammation and Infectious Diseases, Montréal Clinical Research Institute (IRCM) , Montréal, Canada.
Department of Medicine, Montréal University, Montréal, Canada.
ORCID: 0000-0002-5486-1549

Mathilde Puel (M)

Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France.
ORCID: 0009-0000-4972-6636

Sinem Ünal (S)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0009-0002-5460-5948

Amyrath Geraldo (A)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0009-0005-9238-4447

Corentin Le Floc'h (C)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0009-0007-0590-0437

Hailun Li (H)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0000-0002-0764-2837

Sylvie Rheault (S)

Department of Medicine, Montréal University, Montréal, Canada.
Center of Research of the Geriatric University Institute of Montréal, University of Montréal , Montréal, Canada.
ORCID: 0000-0003-0227-1624

Christine Muti (C)

Department of Genetics, André Mignot Hospital, Versailles, France.
ORCID: 0009-0001-7149-025X

Claire Bobrie-Moyrand (C)

Department of Obstetrics and Gynecology, André Mignot Hospital, Versailles, France.
ORCID: 0009-0002-2689-6522

Anne Welfringer-Morin (A)

Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France.
ORCID: 0000-0001-7479-3689

Ramsay L Fuleihan (RL)

Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
ORCID: 0000-0002-8477-9239

Romain Lévy (R)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
ORCID: 0000-0002-6393-0198

Marie Roelens (M)

Imagine Institute, University of Paris Cité , Paris, France.
Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France.
ORCID: 0000-0002-6212-8742

Liwei Gao (L)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0009-0006-7282-1416

Marie Materna (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0000-0003-2145-5285

Silvia Pellegrini (S)

Diabetes Research Institute, IRCCS Ospedale San Raffaele , Milan, Italy.
ORCID: 0000-0001-5187-2421

Lorenzo Piemonti (L)

Diabetes Research Institute, IRCCS Ospedale San Raffaele , Milan, Italy.
ORCID: 0000-0002-2172-2198

Emilie Catherinot (E)

Department of Respiratory Diseases, Foch Hospital, Suresnes, France.
ORCID: 0000-0002-1487-3270

Jean-Christophe Goffard (JC)

Internal Medicine, Brussels University Hospital, Free University of Brussels, Anderlecht, Belgium.
ORCID: 0000-0002-2730-7673

Arnaud Fekkar (A)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
Department of Parasitology Mycology, Pitié-Salpêtrière Hospital, AP-HP, Paris, France.
ORCID: 0000-0001-9954-075X

Aissata Sacko-Sow (A)

Department of Pediatrics, Jean Verdier Hospital, AP-HP, Bondy, France.
ORCID: 0009-0006-5963-1597

Camille Soudée (C)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0009-0002-1445-7223

Soraya Boucherit (S)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0000-0002-8819-7594

Anna-Lena Neehus (AL)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0000-0002-8573-6820

Cristina Has (C)

Department of Dermatology, Medical Center-University of Freiburg, Freiburg im Breisgau, Germany.
European Reference Network (ERN) for Rare and Undiagnosed Skin Disorders.
ORCID: 0000-0001-6066-507X

Stefanie Hübner (S)

Department of Dermatology, Medical Center-University of Freiburg, Freiburg im Breisgau, Germany.
ORCID: 0000-0002-1563-4749

Géraldine Blanchard-Rohner (G)

Unit of Immunology, Vaccinology, and Rheumatology, Division of General Pediatrics, Department of Woman, Child, and Adolescent Medicine, Geneva University Hospitals and Faculty of Medicine, University of Geneva, Geneva, Switzerland.
ORCID: 0000-0002-9974-2172

Blanca Amador-Borrero (B)

Internal Medicine Department, Lariboisière Hospital, AP-HP, University of Paris Cité, Paris, France.
ORCID: 0000-0001-6170-8721

Takanori Utsumi (T)

Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan.
ORCID: 0009-0003-3600-4484

Maki Taniguchi (M)

Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan.
ORCID: 0009-0005-4035-1360

Hiroo Tani (H)

Department of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.
Department of Pediatrics, Hiroshima Prefectural Hospital, Hiroshima, Japan.
ORCID: 0000-0002-4632-6482

Kazushi Izawa (K)

Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
ORCID: 0000-0003-1080-0936

Takahiro Yasumi (T)

Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.
ORCID: 0000-0003-3257-5071

Sotaro Kanai (S)

Division of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.
ORCID: 0000-0002-7320-2346

Mélanie Migaud (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
ORCID: 0000-0003-3062-1214

Mélodie Aubart (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
Departments of Pediatric Neurology, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France.
ORCID: 0000-0002-4383-7930

Nathalie Lambert (N)

Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France.
ORCID: 0009-0001-1762-8641

Guy Gorochov (G)

Sorbonne University, Inserm, Centre for Immunology and Microbial Infections, CIMI-Paris , Paris, France.
Department of Immunology, Pitié-Salpêtrière Hospital, AP-HP, Paris, France.
ORCID: 0000-0003-2097-9677

Capucine Picard (C)

Imagine Institute, University of Paris Cité , Paris, France.
Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France.
Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm U1163, Paris, France.
ORCID: 0000-0001-8788-5056

Claire Soudais (C)

Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm U1163, Paris, France.
ORCID: 0000-0002-4387-6649

Anne-Sophie L'Honneur (AS)

Department of Virology, University of Paris Cité and Cochin Hospital, AP-HP, Paris, France.
ORCID: 0000-0002-9228-0649

Flore Rozenberg (F)

Department of Virology, University of Paris Cité and Cochin Hospital, AP-HP, Paris, France.
ORCID: 0000-0001-7212-2021

Joshua D Milner (JD)

Department of Pediatrics, Columbia University Medical Center, New York, NY, USA.
ORCID: 0000-0002-3913-3869

Shen-Ying Zhang (SY)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
ORCID: 0000-0002-9449-3672

Pierre Vabres (P)

MAGEC Reference Center for Rare Skin Diseases, Dijon Bourgogne University Hospital, Dijon, France.
ORCID: 0000-0001-8693-3183

Dusan Trpinac (D)

Institute of Histology and Embryology, School of Medicine, University of Belgrade , Belgrade, Serbia.
ORCID: 0000-0003-2586-9223

Nico Marr (N)

Department of Immunology, Sidra Medicine, Doha, Qatar.
College of Health and Life Sciences, Hamad Bin Khalifa University , Doha, Qatar.
ORCID: 0000-0002-1927-7072

Nathalie Boddaert (N)

Pediatric Radiology Department, Necker Hospital for Sick Children, Imagine Inserm Institute, U1163, AP-HP, Paris, France.
ORCID: 0000-0003-0991-7774

Isabelle Desguerre (I)

Departments of Pediatric Neurology, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France.
ORCID: 0000-0002-4074-5862

Manolis Pasparakis (M)

Institute for Genetics, University of Cologne , Cologne, Germany.
ORCID: 0000-0002-9870-0966

Corey N Miller (CN)

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

Cláudia S Poziomczyk (CS)

Private Dermatology Practice , Porto Alegre, Brazil.
ORCID: 0009-0006-6943-0131

Laurent Abel (L)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
ORCID: 0000-0001-7016-6493

Satoshi Okada (S)

Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan.
ORCID: 0000-0002-4622-5657

Emmanuelle Jouanguy (E)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
ORCID: 0000-0002-7358-9157

Rémi Cheynier (R)

University of Paris Cité, CNRS, Inserm, Institut Cochin , Paris, France.
ORCID: 0000-0003-1146-660X

Qian Zhang (Q)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
ORCID: 0000-0002-9040-3289

Aurélie Cobat (A)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
ORCID: 0000-0001-7209-6257

Vivien Béziat (V)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
ORCID: 0000-0002-4020-824X

Bertrand Boisson (B)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
ORCID: 0000-0001-5240-3555

Julie Steffann (J)

Department of Genomic Medicine, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France.
ORCID: 0000-0001-5259-4144

Francesca Fusco (F)

Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR , Naples, Italy.
ORCID: 0000-0002-7578-6058

Matilde Valeria Ursini (MV)

Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR , Naples, Italy.
ORCID: 0000-0001-5348-3315

Smail Hadj-Rabia (S)

Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France.
ORCID: 0000-0001-6801-7106

Christine Bodemer (C)

Department of Dermatology, Reference Center for Genodermatosis and Rare Skin Diseases (MAGEC), University of Paris Cité, Necker Hospital for Sick Children, AP-HP, Paris, France.
ORCID: 0000-0001-8772-0905

Jacinta Bustamante (J)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France.
ORCID: 0000-0002-3439-2482

Hervé Luche (H)

Immunophenomics Center (CIPHE), Aix Marseille University, Inserm, CNRS , Marseille, France.
ORCID: 0000-0003-4309-8338

Anne Puel (A)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
ORCID: 0000-0003-2603-0323

Gilles Courtois (G)

University Grenoble Alpes, CEA, Inserm , BGE UA13, Grenoble, France.
ORCID: 0000-0003-3117-9595

Paul Bastard (P)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Pediatric Hematology-Immunology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
ORCID: 0000-0002-5926-8437

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.
ORCID: 0000-0002-6163-9540

Mark S Anderson (MS)

Diabetes Center, 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 U1163, Necker Hospital for Sick Children, Paris, France.
Imagine Institute, University of Paris Cité , Paris, France.
St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA.
Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, Paris, France.
Howard Hughes Medical Institute , New York, NY, USA.
ORCID: 0000-0002-7782-4169

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Incontinentia pigmenti underlies thymic...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Cytokines › Interférons › Interféron de type I › Incontinentia pigmenti underlies thymic...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Globulines › Sérum-globulines › Immunoglobulines › Anticorps › Autoanticorps › Incontinentia pigmenti underlies thymic...
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Système lymphatique › Tissu lymphoïde › Thymus (glande) › Incontinentia pigmenti underlies thymic...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Incontinentia pigmenti underlies thymic...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Maladies génétiques de la peau › Incontinentia pigmenti › Incontinentia pigmenti underlies thymic...
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Incontinentia pigmenti underlies thymic...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protein-Serine-Threonine Kinases › I-kappa B Kinase › Incontinentia pigmenti underlies thymic...
questionsmedicales.fr › Infection › Maladies virales › Incontinentia pigmenti underlies thymic...
questionsmedicales.fr › Personnes › Tranches d'âge › Nourrisson › Incontinentia pigmenti underlies thymic...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Incontinentia pigmenti underlies thymic...
questionsmedicales.fr › Personnes › Tranches d'âge › Adolescent › Incontinentia pigmenti underlies thymic...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Jeune adulte › Incontinentia pigmenti underlies thymic...