Article
Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β.
Science immunology - 29 Nov 2019
Li Juan, Ritelli Marco, Ma Cindy S, Rao Geetha, Habib Tanwir, Corvilain Emilie, Bougarn Salim, Cypowyj Sophie, Grodecká Lucie, Lévy Romain, Béziat Vivien, Shang Lei, Payne Kathryn, Avery Danielle T, Migaud Mélanie, Boucherit Soraya, Boughorbel Sabri, Guennoun Andrea, Chrabieh Maya, Rapaport Franck, Bigio Benedetta, Itan Yuval, Boisson Bertrand, Cormier-Daire Valérie, Syx Delfien, Malfait Fransiska, Zoppi Nicoletta, Abel Laurent, Freiberger Tomáš, Dietz Harry C, Marr Nico, Tangye Stuart G, Colombi Marina, Casanova Jean-Laurent, Puel Anne
Abstract excerpt
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...
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