Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.

Alleles Candidiasis, Chronic Mucocutaneous / immunology Cells, Cultured Connective Tissue Diseases / immunology Female Humans Interleukin-17 / immunology Male Mitogen-Activated Protein Kinase 8 / genetics Mutation Transforming Growth Factor beta / immunology

Journal

Science immunology
ISSN: 2470-9468
Titre abrégé: Sci Immunol
Pays: United States
ID NLM: 101688624

Informations de publication

Date de publication:
29 11 2019
Historique:
received: 23 04 2019
accepted: 01 11 2019
entrez: 1 12 2019
pubmed: 1 12 2019
medline: 30 7 2020
Statut: ppublish

Résumé

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

Identifiants

DOI: 10.1126/sciimmunol.aax7965 PMID: 31784499 PMC: PMC7014825
pubmed: 31784499
pii: 4/41/eaax7965
doi: 10.1126/sciimmunol.aax7965
pmc: PMC7014825
mid: NIHMS1551419
pii:
doi:

Substances chimiques

IL17A protein, human 0
IL17F protein, human 0
Interleukin-17 0
Transforming Growth Factor beta 0
Mitogen-Activated Protein Kinase 8 EC 2.7.11.24

Types de publication

Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : NIAID NIH HHS
ID : R01 AI127564
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001866
Pays : United States

Commentaires et corrections

Type : ErratumIn

Informations de copyright

Copyright © 2019 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works.

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Auteurs

Juan Li (J)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
ORCID: 0000-0003-4376-7781

Marco Ritelli (M)

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
ORCID: 0000-0002-7025-2495

Cindy S Ma (CS)

Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.
St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales 2010, Australia.
ORCID: 0000-0001-5387-8413

Geetha Rao (G)

Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.

Tanwir Habib (T)

Sidra Medicine, P.O. Box 26999, Doha, Qatar.
ORCID: 0000-0002-2301-2704

Emilie Corvilain (E)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
University of Paris, Imagine Institute, 75015 Paris, France.

Salim Bougarn (S)

Sidra Medicine, P.O. Box 26999, Doha, Qatar.
ORCID: 0000-0003-1132-6615

Sophie Cypowyj (S)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.

Lucie Grodecká (L)

Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno 65691, Czech Republic.
ORCID: 0000-0002-4979-0352

Romain Lévy (R)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
University of Paris, Imagine Institute, 75015 Paris, France.
ORCID: 0000-0002-6393-0198

Vivien Béziat (V)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
University of Paris, Imagine Institute, 75015 Paris, France.
ORCID: 0000-0002-4020-824X

Lei Shang (L)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.

Kathryn Payne (K)

Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.
ORCID: 0000-0003-3311-5210

Danielle T Avery (DT)

Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.
ORCID: 0000-0002-9156-0489

Mélanie Migaud (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
University of Paris, Imagine Institute, 75015 Paris, France.
ORCID: 0000-0003-3062-1214

Soraya Boucherit (S)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
University of Paris, Imagine Institute, 75015 Paris, France.
ORCID: 0000-0002-8819-7594

Sabri Boughorbel (S)

Sidra Medicine, P.O. Box 26999, Doha, Qatar.

Andrea Guennoun (A)

Sidra Medicine, P.O. Box 26999, Doha, Qatar.
ORCID: 0000-0002-4303-8653

Maya Chrabieh (M)

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
University of Paris, Imagine Institute, 75015 Paris, France.

Franck Rapaport (F)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
ORCID: 0000-0001-6553-2110

Benedetta Bigio (B)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.

Yuval Itan (Y)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.

Bertrand Boisson (B)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
University of Paris, Imagine Institute, 75015 Paris, France.
ORCID: 0000-0001-5240-3555

Valérie Cormier-Daire (V)

University of Paris, Imagine Institute, 75015 Paris, France.
Department of Medical Genetics, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.

Delfien Syx (D)

Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
ORCID: 0000-0001-9421-4496

Fransiska Malfait (F)

Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
ORCID: 0000-0002-5010-0304

Nicoletta Zoppi (N)

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
ORCID: 0000-0003-0197-8927

Laurent Abel (L)

St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
University of Paris, Imagine Institute, 75015 Paris, France.
ORCID: 0000-0001-7016-6493

Tomáš Freiberger (T)

Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, Brno 65691, Czech Republic.
Faculty of Medicine and Central European Institute of Technology, Masaryk University, Brno 62500, Czech Republic.
ORCID: 0000-0001-6532-7053

Harry C Dietz (HC)

McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Howard Hughes Medical Institute, Baltimore, MD 21205, USA.
ORCID: 0000-0002-6856-0165

Nico Marr (N)

Sidra Medicine, P.O. Box 26999, Doha, Qatar.
College of Health and Life Sciences, Hamad Bin Khalifa University, P.O. Box 34110, Doha, Qatar.
ORCID: 0000-0002-1927-7072

Stuart G Tangye (SG)

Immunology Division, Garvan Institute of Medical Research, Darlinghurst, New South Wales 2010, Australia.
St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Sydney, New South Wales 2010, Australia.
ORCID: 0000-0002-5360-5180

Marina Colombi (M)

Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.
ORCID: 0000-0002-3105-5990

Jean-Laurent Casanova (JL)

St. 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.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
University of Paris, Imagine Institute, 75015 Paris, France.
Pediatric Hematology-Immunology Unit, Necker Hospital for Sick Children, 75015 Paris, France.
Howard Hughes Medical Institute, New York, NY 10065, USA.
ORCID: 0000-0002-7782-4169

Anne Puel (A)

St. 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.
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.
University of Paris, Imagine Institute, 75015 Paris, France.
ORCID: 0000-0003-2603-0323

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Classifications MeSH

questionsmedicales.fr › Phénomènes génétiques › Structures génétiques › Génome › Composants de génome › Gènes › Allèles › Chronic mucocutaneous candidiasis and...
questionsmedicales.fr › États, signes et symptômes pathologiques › Processus pathologiques › Caractéristiques de la maladie › Maladie chronique › Candidose mucocutanée chronique › Chronic mucocutaneous candidiasis and...
questionsmedicales.fr › Cellules › Cellules cultivées › Chronic mucocutaneous candidiasis and...
questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies du tissu conjonctif › Chronic mucocutaneous candidiasis and...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Chronic mucocutaneous candidiasis and...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Cytokines › Interleukines › Interleukine-17 › Chronic mucocutaneous candidiasis and...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines et peptides de signalisation intracellulaire › Protein-Serine-Threonine Kinases › Mitogen-Activated Protein Kinases › JNK Mitogen-Activated Protein Kinases › Mitogen-Activated Protein Kinase 8 › Chronic mucocutaneous candidiasis and...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Chronic mucocutaneous candidiasis and...
questionsmedicales.fr › Facteurs biologiques › Protéines et peptides de signalisation intercellulaire › Protéines de la superfamille du TGF bêta › Facteur de croissance transformant bêta › Chronic mucocutaneous candidiasis and...