ArticleScience immunology2019
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.
Erratum issuedOpen access · greenAbstract read
In one paragraph
Article in Science immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 37 papers.
0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed
2.9field-weighted citation impact, top 8% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
37 citing papers in PubMed, 51 citations in OpenAlex.
- A Child with Chronic Mucocutaneous Candidiasis Harbors a Novel Gain-of-Function Mutation in STAT1.Journal of clinical immunology · 2025Article
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- Dominant interfering CARD11 variants disrupt JNK signaling to promote GATA3 expression in T cells.The Journal of experimental medicine · 2025Article
- Macrophages in Focus: Key Drivers and Therapeutic Opportunities in Diabetic Kidney Disease.International journal of biological sciences · 2025Review
- Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC.Journal of clinical immunology · 2023Article
- Immune responses to human fungal pathogens and therapeutic prospects.Nature reviews. Immunology · 2023Review
- The Th17/IL-17 Axis and Host Defense Against Fungal Infections.The journal of allergy and clinical immunology. In practice · 2023Review
- Inborn errors of immunity with loss- and gain-of-function germline mutations in STAT1.Clinical and experimental immunology · 2023Review
- Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.Pathogens (Basel, Switzerland) · 2023Review
- Human IL-23 is essential for IFN-γ-dependent immunity to mycobacteria.Science immunology · 2023Article
- Inborn Errors of Immunity Causing Pediatric Susceptibility to Fungal Diseases.Journal of fungi (Basel, Switzerland) · 2023Review
- Pathogenesis and virulence ofVirulence · 2022Review
- Elevated IgE from attenuated CARD11 signaling: lessons from atopic mice and humans.Current opinion in immunology · 2022Review
- Impaired IL-23-dependent induction of IFN-γ underlies mycobacterial disease in patients with inherited TYK2 deficiency.The Journal of experimental medicine · 2022Article
- Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.Journal of clinical immunology · 2022Article
- Review
- 7-Methoxyisoflavone ameliorates atopic dermatitis symptoms by regulating multiple signaling pathways and reducing chemokine production.Scientific reports · 2022Article
- Human autoantibodies underlying infectious diseases.The Journal of experimental medicine · 2022Article
- Dysregulation of the immune response in TGF-β signalopathies.Frontiers in immunology · 2022Review
- Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.The Journal of experimental medicine · 2021Article
Corrections and comments
- Erratum issued
Authors and funding
35 authors at 10 institutions in 8 countries.
Juan LiSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.ORCID 0000-0003-4376-7781
Marco RitelliDivision of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.ORCID 0000-0002-7025-2495
Cindy S MaImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.ORCID 0000-0001-5387-8413
Geetha RaoImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.
Tanwir HabibSidra Medicine, P.O. Box 26999, Doha, Qatar.ORCID 0000-0002-2301-2704
Emilie CorvilainLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
Salim BougarnSidra Medicine, P.O. Box 26999, Doha, Qatar.ORCID 0000-0003-1132-6615
Sophie CypowyjSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Lucie GrodeckáMolecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno 65691, Czech Republic.ORCID 0000-0002-4979-0352
Romain LévyLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.ORCID 0000-0002-6393-0198
Vivien BéziatLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.ORCID 0000-0002-4020-824X
Lei ShangSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Kathryn PayneImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.ORCID 0000-0003-3311-5210
Danielle T AveryImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.ORCID 0000-0002-9156-0489
Mélanie MigaudLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.ORCID 0000-0003-3062-1214
Soraya BoucheritLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.ORCID 0000-0002-8819-7594
Sabri BoughorbelSidra Medicine, P.O. Box 26999, Doha, Qatar.
Andrea GuennounSidra Medicine, P.O. Box 26999, Doha, Qatar.ORCID 0000-0002-4303-8653
Maya ChrabiehLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
Franck RapaportSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.ORCID 0000-0001-6553-2110
Benedetta BigioSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Yuval ItanSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Bertrand BoissonSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.ORCID 0000-0001-5240-3555
Valérie Cormier-DaireUniversity of Paris, Imagine Institute, 75015 Paris, France.
Delfien SyxCenter for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.ORCID 0000-0001-9421-4496
Fransiska MalfaitCenter for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.ORCID 0000-0002-5010-0304
Nicoletta ZoppiDivision of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.ORCID 0000-0003-0197-8927
Laurent AbelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.ORCID 0000-0001-7016-6493
Tomáš FreibergerMolecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno 65691, Czech Republic.ORCID 0000-0001-6532-7053
Harry C DietzMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.ORCID 0000-0002-6856-0165
Nico MarrSidra Medicine, P.O. Box 26999, Doha, Qatar.ORCID 0000-0002-1927-7072
Stuart G TangyeImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.ORCID 0000-0002-5360-5180
Marina ColombiDivision of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.ORCID 0000-0002-3105-5990
Jean-Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA. jean-laurent.casanova@rockefeller.edu anne.puel@inserm.fr.ORCID 0000-0002-7782-4169
Anne PuelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA. jean-laurent.casanova@rockefeller.edu anne.puel@inserm.fr.ORCID 0000-0003-2603-0323
Inserm · FRRockefeller University · USGarvan Institute of Medical Research · AUUniversity of Brescia · ITGhent University Hospital · BEHoward Hughes Medical Institute · USAssistance Publique – Hôpitaux de Paris · FRCentral European Institute of Technology · CZCentrum kardiovaskulární a transplantační chirurgie · CZHamad bin Khalifa University · QA
Funding
Developing, Demonstrating, and Disseminating Innovative Programs to Achieve Translational SuccessUL1TR001866 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY, KRUEGER, JAMES G · 2016 to 2025
$40.6MGenome-wide search for inborn errors of IL-17 immunity underlying chronic mucocutaneous candidiasisR01AI127564 · NIAID · UT SOUTHWESTERN MEDICAL CENTER · PI Jean-Laurent Casanova, Anne Puel · 2017 to 2026
$4.8MNCATS NIH HHS UL1 TR001866NIAID NIH HHS R01 AI127564
Abstract
Genetic etiologies of chronic mucocutaneous candidiasis (CMC) disrupt human IL-17A/F-dependent immunity at mucosal surfaces, whereas those of connective tissue disorders (CTDs) often impair the TGF-β-dependent homeostasis of connective tissues. The signaling pathways involved are incompletely understood. We report a three-generation family with an autosomal dominant (AD) combination of CMC and a previously undescribed form of CTD that clinically overlaps with Ehlers-Danlos syndrome (EDS). The patients are heterozygous for a private splice-site variant of
Indexed as
AllelesCandidiasis, Chronic MucocutaneousCells, CulturedConnective Tissue DiseasesFemaleHumansInterleukin-17MaleMitogen-Activated Protein Kinase 8MutationTransforming Growth Factor betaIL17A protein, humanIL17F protein, humanInterleukin-17Mitogen-Activated Protein Kinase 8Transforming Growth Factor beta
Identifiers
What OpenQuestion holds
Textmetadata
LicenceTDM
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.