ArticleThe Journal of experimental medicine2024
Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.
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Article in The Journal of experimental medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14citing papers in PubMed
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Who cites it
14 citing papers in PubMed.
- High risk of hypoxemic COVID-19 pneumonia in myasthenia gravis patients with type I IFN autoantibodies.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Autoantibodies neutralizing type I IFNs in 40% of patients with WNV encephalitis in seven new cohorts.Journal of human immunity · 2026Article
- High risk of hypoxemic COVID-19 pneumonia in myasthenia gravis patients with type I IFN autoantibodies.medRxiv : the preprint server for health sciences · 2026Article
- Autoantibody repertoire analysis in paraneoplastic pemphigus reveals novel targets linked to mucocutaneous blistering and bronchiolitis obliterans.Communications medicine · 2026Article
- Human interferon-ω: an underappreciated type I interferon.Frontiers in immunology · 2026Review
- A case of Incontinentia Pigmenti associated with concurrentFrontiers in medicine · 2026Article
- The seven enigmas of SARS-CoV-2: from the past to the future.Journal of human immunity · 2025Article
- Autoantibodies neutralizing type I IFNs in 40% of patients with WNV encephalitis in seven new cohorts.medRxiv : the preprint server for health sciences · 2025Article
- Interferons in health and disease.Cell · 2025Review
- Sterile production of interferons in the thymus.Journal of immunology (Baltimore, Md. : 1950) · 2025Review
- Risk of Death, Infections, and Hyperthermia in Ectodermal Dysplasias: A Nationwide Study.Acta dermato-venereologica · 2025Article
- Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.The Journal of experimental medicine · 2025Article
- A sensitive assay for measuring whole-blood responses to type I IFNs.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children.The Journal of experimental medicine · 2024Article
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Authors and funding
99 authors.
Jérémie RosainLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-2822-161X
Tom Le Voyer *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-7253-3135
Xian Liu *Diabetes Center, University of California San Francisco , San Francisco, CA, USA.ORCID 0000-0001-6546-3725
Adrian Gervais *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-1083-5787
Laura Polivka *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 0000-0002-5142-6234
Axel Cederholm *Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.ORCID 0009-0006-5973-9637
Laureline Berteloot *Pediatric Radiology Department, Necker Hospital for Sick Children, Imagine Inserm Institute, U1163, AP-HP, Paris, France.ORCID 0000-0001-9681-3142
Audrey V Parent *Diabetes Center, University of California San Francisco , San Francisco, CA, USA.ORCID 0000-0003-4506-6268
Alessandra Pescatore *Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR , Naples, Italy.ORCID 0000-0001-8453-8198
Ezia Spinosa *Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR , Naples, Italy.ORCID 0009-0000-4358-557X
Snezana Minic *Clinics of Dermatovenerology, Clinical Center of Serbia , Belgrade, Serbia.ORCID 0000-0003-2185-9749
Ana Elisa Kiszewski *Section of Dermatology, Federal University of Health Sciences of Porto Alegre, Porto Alegre, Brazil.ORCID 0000-0002-6287-6302
Miyuki Tsumura *Hiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan.ORCID 0000-0002-8272-9588
Chloé Thibault *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-9420-4180
Maria Esnaola Azcoiti *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-1499-1015
Jelena Martinovic *Unit of Fetal Pathology, Hospital Antoine Béclère, Paris Saclay University , Paris, France.ORCID 0000-0003-4595-7271
Quentin Philippot *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-3429-9605
Taushif Khan *Department of Immunology, Sidra Medicine, Doha, Qatar.ORCID 0000-0002-7917-8965
Astrid Marchal *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-0648-8126
Bénédicte Charmeteau-De Muylder *University of Paris Cité, CNRS, Inserm, Institut Cochin , Paris, France.ORCID 0009-0009-2692-781X
Lucy Bizien *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-9163-9122
Caroline Deswarte *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-8775-3368
Lillia HadjemImmunophenomics Center (CIPHE), Aix Marseille University, Inserm, CNRS , Marseille, France.ORCID 0009-0003-6990-5887
Marie-Odile FauvarqueUniversity Grenoble Alpes, CEA, Inserm , BGE UA13, Grenoble, France.ORCID 0000-0001-5020-3701
Karim DorghamSorbonne University, Inserm, Centre for Immunology and Microbial Infections, CIMI-Paris , Paris, France.ORCID 0000-0001-9539-3203
Daniel ErikssonDepartment of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.ORCID 0000-0001-5473-3312
Emilia Liana FalconeCenter for Immunity, Inflammation and Infectious Diseases, Montréal Clinical Research Institute (IRCM) , Montréal, Canada.ORCID 0000-0002-5486-1549
Mathilde PuelStudy Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France.ORCID 0009-0000-4972-6636
Sinem ÜnalLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0009-0002-5460-5948
Amyrath GeraldoLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0009-0005-9238-4447
Corentin Le Floc'hLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0009-0007-0590-0437
Hailun LiLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-0764-2837
Sylvie RheaultDepartment of Medicine, Montréal University, Montréal, Canada.ORCID 0000-0003-0227-1624
Christine MutiDepartment of Genetics, André Mignot Hospital, Versailles, France.ORCID 0009-0001-7149-025X
Claire Bobrie-MoyrandDepartment of Obstetrics and Gynecology, André Mignot Hospital, Versailles, France.ORCID 0009-0002-2689-6522
Anne Welfringer-MorinDepartment 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 FuleihanDepartment of Pediatrics, Columbia University Medical Center, New York, NY, USA.ORCID 0000-0002-8477-9239
Romain LévyLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-6393-0198
Marie RoelensImagine Institute, University of Paris Cité , Paris, France.ORCID 0000-0002-6212-8742
Liwei GaoLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0009-0006-7282-1416
Marie MaternaLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-2145-5285
Silvia PellegriniDiabetes Research Institute, IRCCS Ospedale San Raffaele , Milan, Italy.ORCID 0000-0001-5187-2421
Lorenzo PiemontiDiabetes Research Institute, IRCCS Ospedale San Raffaele , Milan, Italy.ORCID 0000-0002-2172-2198
Emilie CatherinotDepartment of Respiratory Diseases, Foch Hospital, Suresnes, France.ORCID 0000-0002-1487-3270
Jean-Christophe GoffardInternal Medicine, Brussels University Hospital, Free University of Brussels, Anderlecht, Belgium.ORCID 0000-0002-2730-7673
Arnaud FekkarLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-9954-075X
Aissata Sacko-SowDepartment of Pediatrics, Jean Verdier Hospital, AP-HP, Bondy, France.ORCID 0009-0006-5963-1597
Camille SoudéeLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0009-0002-1445-7223
Soraya BoucheritLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-8819-7594
Anna-Lena NeehusLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-8573-6820
Cristina HasDepartment of Dermatology, Medical Center-University of Freiburg, Freiburg im Breisgau, Germany.ORCID 0000-0001-6066-507X
Stefanie HübnerDepartment of Dermatology, Medical Center-University of Freiburg, Freiburg im Breisgau, Germany.ORCID 0000-0002-1563-4749
Géraldine Blanchard-RohnerUnit 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-BorreroInternal Medicine Department, Lariboisière Hospital, AP-HP, University of Paris Cité, Paris, France.ORCID 0000-0001-6170-8721
Takanori UtsumiHiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan.ORCID 0009-0003-3600-4484
Maki TaniguchiHiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan.ORCID 0009-0005-4035-1360
Hiroo TaniDepartment of Pediatrics, Hiroshima University Hospital, Hiroshima, Japan.ORCID 0000-0002-4632-6482
Kazushi IzawaDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.ORCID 0000-0003-1080-0936
Takahiro YasumiDepartment of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan.ORCID 0000-0003-3257-5071
Sotaro KanaiDivision of Child Neurology, Department of Brain and Neurosciences, Faculty of Medicine, Tottori University, Yonago, Japan.ORCID 0000-0002-7320-2346
Mélanie MigaudLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-3062-1214
Mélodie AubartLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-4383-7930
Nathalie LambertStudy Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hôpitaux de Paris (AP-HP) , Paris, France.ORCID 0009-0001-1762-8641
Guy GorochovSorbonne University, Inserm, Centre for Immunology and Microbial Infections, CIMI-Paris , Paris, France.ORCID 0000-0003-2097-9677
Capucine PicardImagine Institute, University of Paris Cité , Paris, France.ORCID 0000-0001-8788-5056
Claire SoudaisLaboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm U1163, Paris, France.ORCID 0000-0002-4387-6649
Anne-Sophie L'HonneurDepartment of Virology, University of Paris Cité and Cochin Hospital, AP-HP, Paris, France.ORCID 0000-0002-9228-0649
Flore RozenbergDepartment of Virology, University of Paris Cité and Cochin Hospital, AP-HP, Paris, France.ORCID 0000-0001-7212-2021
Joshua D MilnerDepartment of Pediatrics, Columbia University Medical Center, New York, NY, USA.ORCID 0000-0002-3913-3869
Shen-Ying ZhangLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-9449-3672
Pierre VabresMAGEC Reference Center for Rare Skin Diseases, Dijon Bourgogne University Hospital, Dijon, France.ORCID 0000-0001-8693-3183
Dusan TrpinacInstitute of Histology and Embryology, School of Medicine, University of Belgrade , Belgrade, Serbia.ORCID 0000-0003-2586-9223
Nico MarrDepartment of Immunology, Sidra Medicine, Doha, Qatar.ORCID 0000-0002-1927-7072
Nathalie BoddaertPediatric Radiology Department, Necker Hospital for Sick Children, Imagine Inserm Institute, U1163, AP-HP, Paris, France.ORCID 0000-0003-0991-7774
Isabelle DesguerreDepartments of Pediatric Neurology, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France.ORCID 0000-0002-4074-5862
Manolis PasparakisInstitute for Genetics, University of Cologne , Cologne, Germany.ORCID 0000-0002-9870-0966
Corey N MillerDiabetes Center, University of California San Francisco , San Francisco, CA, USA.ORCID 0000-0002-1291-0074
Cláudia S PoziomczykPrivate Dermatology Practice , Porto Alegre, Brazil.ORCID 0009-0006-6943-0131
Laurent AbelLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-7016-6493
Satoshi OkadaHiroshima University Graduate School of Biomedical and Health Sciences , Hiroshima, Japan.ORCID 0000-0002-4622-5657
Emmanuelle JouanguyLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-7358-9157
Rémi CheynierUniversity of Paris Cité, CNRS, Inserm, Institut Cochin , Paris, France.ORCID 0000-0003-1146-660X
Qian ZhangLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-9040-3289
Aurélie CobatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-7209-6257
Vivien BéziatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-4020-824X
Bertrand BoissonLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0001-5240-3555
Julie SteffannDepartment of Genomic Medicine, Necker Hospital for Sick Children, AP-HP, University of Paris Cité, Paris, France.ORCID 0000-0001-5259-4144
Francesca FuscoInstitute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR , Naples, Italy.ORCID 0000-0002-7578-6058
Matilde Valeria UrsiniInstitute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR , Naples, Italy.ORCID 0000-0001-5348-3315
Smail Hadj-RabiaDepartment 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 BodemerDepartment 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 BustamanteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-3439-2482
Hervé LucheImmunophenomics Center (CIPHE), Aix Marseille University, Inserm, CNRS , Marseille, France.ORCID 0000-0003-4309-8338
Anne Puel *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0003-2603-0323
Gilles Courtois *University Grenoble Alpes, CEA, Inserm , BGE UA13, Grenoble, France.ORCID 0000-0003-3117-9595
Paul Bastard *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-5926-8437
Nils Landegren *Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden.ORCID 0000-0002-6163-9540
Mark S Anderson *Diabetes Center, University of California San Francisco , San Francisco, CA, USA.ORCID 0000-0002-3093-4758
Jean-Laurent Casanova *Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.ORCID 0000-0002-7782-4169
Funding
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MRestorative practice in repairing harm and promoting safe and inclusive practices in the laboratory.T32GM136547 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Adrian Erlebacher, Anita Sil · 2020 to 2026
$4.5MInborn errors of immunity in patients with life-threatening COVID-19R01AI163029 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT, ZHANG, QIAN · 2021 to 2025
$3.7MMechanisms of thymic stromal-immune crosstalk for homeostasis and naïve T cell licensing across lifeK01AG072789 · NIA · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI MILLER, COREY NICHOLAS · 2021 to 2025
$701kAssociation Incontinentia Pigmenti FranceBettencourt-Schueller FoundationChan-Zuckerberg BiohubEuropean Union's Horizon 2020 research and innovation program 824110Filière Santé Maladies Rares DermatologiquesFrench Foundation for Medical Research EQU201903007798French Ministry of Higher Education, Research, and InnovationFrench National Research Agency ANR-10-IAHU-01General Atlantic FoundationGöran Gustafsson Foundation 2141Grandir - Fonds de solidarité pour l'enfanceHORIZON-HLTH-2021-DISEASE-04 101057100Howard Hughes Medical InstituteImagine InstituteInstitut National de la Santé et de la Recherche MédicaleJapan Agency for Medical Research and Development JP22fk0108514Japan Society for the Promotion of Science 22H03041National Center for Advancing SciencesNational Institute of Allergy and Infectious DiseasesNCATS NIH HHS UL1 TR001866NCRR NIH HHS UL1TR001866Next Generation EU-MUR PNRR PE00000007NIAID NIH HHS R01 AI163029NIA NIH HHS K01 AG072789NIGMS NIH HHS T32 GM136547NIH HHS R01AI163029Paris Cité UniversityQatar National Research Fund NPRP9-251-3-045Rockefeller UniversitySCOR Corporate Foundation for ScienceSidra MedicineSquare FoundationSt. Giles FoundationSwedish Research Council 2021-03118University Grenoble Alpes ANR-17-EURE-0003
Abstract
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.
Indexed as
AutoantibodiesI-kappa B KinaseIncontinentia PigmentiInterferon Type IThymus GlandAdolescentAdultChildChild, PreschoolFemaleHumansInfantVirus DiseasesYoung AdultAutoantibodiesI-kappa B KinaseIKBKG protein, humanInterferon Type I
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