Ontology highlight
ABSTRACT:
SUBMITTER: Ling Y
PROVIDER: S-EPMC4419340 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Ling Yun Y Cypowyj Sophie S Aytekin Caner C Galicchio Miguel M Camcioglu Yildiz Y Nepesov Serdar S Ikinciogullari Aydan A Dogu Figen F Belkadi Aziz A Levy Romain R Migaud Mélanie M Boisson Bertrand B Bolze Alexandre A Itan Yuval Y Goudin Nicolas N Cottineau Julien J Picard Capucine C Abel Laurent L Bustamante Jacinta J Casanova Jean-Laurent JL Puel Anne A
The Journal of experimental medicine 20150427 5
Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections of the skin, nail, oral, and genital mucosae with Candida species, mainly C. albicans. Autosomal-recessive (AR) IL-17RA and ACT1 deficiencies and autosomal-dominant IL-17F deficiency, each reported in a single kindred, underlie CMC in otherwise healthy patients. We report three patients from unrelated kindreds, aged 8, 12, and 37 yr with isolated CMC, who display AR IL-17RC deficiency. The patients are ...[more]