ArticleScience (New York, N.Y.)2015
IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations.
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In one paragraph
Article in Science (New York, N.Y.), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 253 papers, 2 of them syntheses that pooled it.
0numbers the graph read from it
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253citing papers in PubMed, 2 pooled it
20.5field-weighted citation impact, top 1% of its field
What it found
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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.
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Who cites it
253 citing papers in PubMed, 2 syntheses or guidelines pooled it, 412 citations in OpenAlex.
- Genetic, immunologic, and clinical features of 830 patients with Mendelian susceptibility to mycobacterial diseases (MSMD): A systematic review.The Journal of allergy and clinical immunology · 2024Pooled it
- An Updated Review on MSMD Research Globally and A Literature Review on the Molecular Findings, Clinical Manifestations, and Treatment Approaches in China.Frontiers in immunology · 2022Pooled it
- SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation.Blood · 2021Trial
- A phase I, randomized, double-blind study to assess the safety, tolerability and efficacy of the topical RORC2 inverse agonist PF-06763809 in participants with mild-to-moderate plaque psoriasis.Clinical and experimental dermatology · 2021Trial
- ILC3s as central regulators of mucosal homeostasis and disease pathogenesis (Review).International journal of molecular medicine · 2026Review
- Host-pathogen interactions in tuberculosis: from immunological mechanisms to translational applications.Cell insight · 2026Review
- Human inherited RORγT deficiency encompasses genetic heterogeneity, T cell deficiency, and clinical homogeneity.medRxiv : the preprint server for health sciences · 2026Article
- Fungal Infections in Disorders of Inborn Errors of Immunity.Clinical reviews in allergy & immunology · 2026Review
- The host immune response to Mycobacterium tuberculosis determining protection or disease progression.Nature immunology · 2026Review
- Toward a monogenic architecture of human infections: From 1996 to 2026.Journal of human immunity · 2026Review
- Context-specific roles for IL-17 in tuberculosis.PLoS pathogens · 2026Review
- Enhanced HIF-1α cooperation by a human RORγt mutant potentiates Th17 pathogenicity.Cell reports · 2026Article
- Distinguishing Features of ILC2s During Type 2 Immune Responses.European journal of immunology · 2026Review
- Novel de novo dominantJournal of human immunity · 2026Article
- Mendelian susceptibility to mycobacterial disease: IFN-γ-driven immunity collapse underlies heterogeneous infections.Frontiers in immunology · 2026Review
- Mincle-dependent Th17 adjuvanticity requires TNFR1 signaling in myeloid cells.Frontiers in immunology · 2026Article
- T cell-macrophage interactions in tuberculosis: What we've got here is failure to communicate.Journal of internal medicine · 2026Review
- γδ T cells: bridging innate and adaptive immunity in development, tissue residency, and disease.Frontiers in immunology · 2026Review
- Article
- Phantom of the immunologic opera: Unmasking the role of innate lymphoid cells (ILC) in inborn errors of immunity (IEI).Journal of human immunity · 2025Review
193 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
51 authors at 16 institutions in 8 countries.
Satoshi Okada *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Janet G Markle *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Elissa K Deenick *Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Federico Mele *Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland.
Dina Averbuch *Department of Pediatrics, Hadassah University Hospital, Jerusalem, Israel.
Macarena Lagos *Department of Immunology, School of Medicine, Universidad de Valparaíso, Santiago, Chile.
Mohammed Alzahrani *Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Saleh Al-Muhsen *Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Rabih HalwaniDepartment of Pediatrics, Prince Naif Center for Immunology Research, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Cindy S MaImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Natalie WongImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Claire SoudaisInstitut Curie, INSERM U932, Paris, France.
Lauren A HendersonDivision of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.
Hiyam MarzouqaCaritas Baby Hospital, Post Office Box 11535, Jerusalem, Israel.
Jamal ShammaCaritas Baby Hospital, Post Office Box 11535, Jerusalem, Israel.
Marcela GonzalezDepartment of Immunology, School of Medicine, Universidad de Valparaíso, Santiago, Chile.
Rubén Martinez-BarricarteSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Chizuru OkadaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Danielle T AveryImmunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Daniela LatorreInstitute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland.
Caroline DeswarteLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.
Fabienne Jabot-HaninLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.
Egidio TorradoTrudeau Institute, Saranac Lake, NY 12983, USA.
Jeffrey FountainTrudeau Institute, Saranac Lake, NY 12983, USA.
Aziz BelkadiLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.
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.
Mélanie MigaudLaboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR 1163, Paris, France.
Cecilia S Lindestam ArlehamnLa Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA.
Alessandro SetteLa Jolla Institute for Allergy and Immunology, La Jolla, CA 92037, USA.
Sylvain BretonDepartment of Radiology, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker Hospital for Sick Children, Paris, France.
James McCluskeyDepartment of Microbiology and Immunology, Peter Doherty Institute for Infection and Immunity, University of Melbourne, Parkville, Victoria, Australia.
Jamie RossjohnDepartment of Biochemistry and Molecular Biology, School of Biomedical Sciences, Monash University, Clayton, Victoria, Australia.
Jean-Pierre de VillartayLaboratoire Dynamique du Génome et Système Immunitaire, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
Despina MoshousLaboratoire Dynamique du Génome et Système Immunitaire, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
Sophie HambletonInstitute of Cellular Medicine, Newcastle University and Great North Children's Hospital, Newcastle upon Tyne NE4 6BE, UK.
Sylvain LatourLaboratory of Lymphocyte Activation and Susceptibility to EBV Infection, INSERM UMR 1163, Université Paris Descartes-Sorbonne Paris Cité, Imagine Institute, Paris, France.
Peter D ArkwrightDepartment of Paediatric Allergy Immunology, University of Manchester, Royal Manchester Children's Hospital, Manchester, UK.
Capucine PicardSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Olivier LantzInstitut Curie, INSERM U932, Paris, France.
Dan EngelhardDepartment of Pediatrics, Hadassah University Hospital, Jerusalem, Israel.
Masao KobayashiDepartment of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
Laurent AbelSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Andrea M Cooper *Trudeau Institute, Saranac Lake, NY 12983, USA.
Luigi D Notarangelo *Division of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.
Stéphanie Boisson-Dupuis *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Anne Puel *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Federica Sallusto *Institute for Research in Biomedicine, University of Italian Switzerland, Bellinzona, Switzerland.
Jacinta Bustamante *St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Stuart G Tangye *Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
Jean-Laurent CasanovaSt. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Rockefeller University · USInserm · FRGarvan Institute of Medical Research · AUUniversité Paris Cité · FRTrudeau Institute · USUniversità della Svizzera italiana · CHAssistance Publique – Hôpitaux de Paris · FRBoston Children's Hospital · USHadassah Academic College · ILHiroshima University · JPKing Saud University · SALa Jolla Institute for Immunology · USCardiff University · GBKing Faisal Specialist Hospital & Research Centre · SAPeter Doherty Institute · AUUNSW Sydney · AU
Funding
Transforming Translational Science and Education to Benefit Human HealthUL1TR000043 · NCATS · ROCKEFELLER UNIVERSITY · PI COLLER, BARRY · 2012 to 2015
$26.8MMOLECULAR BASIS OF ALLERGIC AND IMMUNOLOGIC DISEASET32AI007512 · NIAID · CHILDREN'S HOSPITAL BOSTON · PI Janet Chou, Peter A Nigrovic · 1996 to 2026
$13.1MGenome-Wide Dissection of Mendelian Susceptibility to Mycobacterial DiseaseR37AI095983 · NIAID · ROCKEFELLER UNIVERSITY · PI CASANOVA, JEAN-LAURENT · 2011 to 2020
$4.6MCIHREuropean Research Council 323183Howard Hughes Medical InstituteNCATS NIH HHS 8UL1TR000043NCATS NIH HHS UL1 TR000043NIAID NIH HHS HHSN272200900044CNIAID NIH HHS R37 AI095983NIAID NIH HHS R37AI095983NIAID NIH HHS T32 AI007512NIAMS NIH HHS L40 AR065238
Abstract
Human inborn errors of immunity mediated by the cytokines interleukin-17A and interleukin-17F (IL-17A/F) underlie mucocutaneous candidiasis, whereas inborn errors of interferon-γ (IFN-γ) immunity underlie mycobacterial disease. We report the discovery of bi-allelic RORC loss-of-function mutations in seven individuals from three kindreds of different ethnic origins with both candidiasis and mycobacteriosis. The lack of functional RORγ and RORγT isoforms resulted in the absence of IL-17A/F-producing T cells in these individuals, probably accounting for their chronic candidiasis. Unexpectedly, leukocytes from RORγ- and RORγT-deficient individuals also displayed an impaired IFN-γ response to Mycobacterium. This principally reflected profoundly defective IFN-γ production by circulating γδ T cells and CD4(+)CCR6(+)CXCR3(+) αβ T cells. In humans, both mucocutaneous immunity to Candida and systemic immunity to Mycobacterium require RORγ, RORγT, or both.
Indexed as
AllelesAnimalsCandida albicansCandidiasis, Chronic MucocutaneousCattleChildChild, PreschoolDNA Mutational AnalysisExomeFemaleGene Rearrangement, alpha-Chain T-Cell Antigen ReceptorHumansImmunityInterferon-gammaInterleukin-17MiceInterferon-gammaInterleukin-17Nuclear Receptor Subfamily 1, Group F, Member 3Receptors, Antigen, T-Cell, alpha-betaReceptors, Antigen, T-Cell, gamma-deltaRORC protein, human
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