Abstract: Chronicmucocutaneouscandidiasis(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-17Fdeficiency, each reported in a single kindred, underlie CMC in otherwise healthypatients. We report threepatientsfrom unrelated kindreds, aged 8, 12, and 37 yr with isolated CMC, who display ARIL-17RCdeficiency. Thepatientsare homozygous for different nonsense alleles that prevent the expression ofIL-17RCon the cell surface. The defect is complete, abolishing cellular responses to IL-17A and IL-17F homo- and heterodimers. However, in contrast to what is observed for the IL-17RA- and ACT1-deficientpatientstested, the response to IL-17E (IL-25) is maintained in theseIL-17RC-deficientpatients. These experiments of nature indicate that humanIL-17RCis essential formucocutaneousimmunity to C. albicans but is otherwise largely redundant.
Link: http://jem.rupress.org/content/212/5/619.abstract