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- W2127379211 abstract "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 homozygous for different nonsense alleles that prevent the expression of IL-17RC on 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-deficient patients tested, the response to IL-17E (IL-25) is maintained in these IL-17RC–deficient patients. These experiments of nature indicate that human IL-17RC is essential for mucocutaneous immunity to C. albicans but is otherwise largely redundant." @default.
- W2127379211 created "2016-06-24" @default.
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- W2127379211 date "2015-04-27" @default.
- W2127379211 modified "2023-10-18" @default.
- W2127379211 title "Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis" @default.
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- W2127379211 doi "https://doi.org/10.1084/jem.20141065" @default.
- W2127379211 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4419340" @default.