Article
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.
Proceedings of the National Academy of Sciences of the United States of America - 20 Dec 2016
Lévy Romain, Okada Satoshi, Béziat Vivien, Moriya Kunihiko, Liu Caini, Chai Louis Yi Ann, Migaud Mélanie, Hauck Fabian, Al Ali Amein, Cyrus Cyril, Vatte Chittibabu, Patiroglu Turkan, Unal Ekrem, Ferneiny Marie, Hyakuna Nobuyuki, Nepesov Serdar, Oleastro Matias, Ikinciogullari Aydan, Dogu Figen, Asano Takaki, Ohara Osamu, Yun Ling, Della Mina Erika, Bronnimann Didier, Itan Yuval, Gothe Florian, Bustamante Jacinta, Boisson-Dupuis Stéphanie, Tahuil Natalia, Aytekin Caner, Salhi Aicha, Al Muhsen Saleh, Kobayashi Masao, Toubiana Julie, Abel Laurent, Li Xiaoxia, Camcioglu Yildiz, Celmeli Fatih, Klein Christoph, AlKhater Suzan A, Casanova Jean-Laurent, Puel Anne
Abstract excerpt
Chronic mucocutaneous candidiasis (CMC) is defined as recurrent or persistent infection of the skin, nails, and/or mucosae with commensal Candida species. The first genetic etiology of isolated CMC-autosomal recessive (AR) IL-17 receptor A (IL-17RA) deficiency-was reported in 2011, in a single patient. We report here 21 patients with complete AR IL-17RA deficiency, including this first patient. Each patient is...
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