NIH R01 · 2024
Genome-wide search for inborn errors of IL-17 immunity underlying chronic mucocutaneous candidiasis
Project Summary Chronic mucocutaneous candidiasis (CMC) is characterized by lesions of the nails, skin, and oral and genital mucosae by the fungus Candida albicans. Autosomal recessive (AR) IL-17RA, IL-17RC, and ACT1 deficiencies, and autosomal dominant (AD) IL-17F deficiency underlie ‘isolated CMC’, while AR CARD9, ROR-g/gT, ZNF341, IL-12p40, and IL-12Rβ1 deficiencies, AD STAT3, IL6ST/GP130, and JNK1 deficiencies, and AD STAT1 gain-of- function (GOF) underlie ‘syndromic CMC’. Cells with IL-17RA, IL-17RC, ACT1, or JNK1 deficiency respond poorly to IL-17A and IL-17F. Cells with IL-17RA or ACT1 deficiency also respond poorly to IL-17E (IL-25). Patients with ROR-g/gT, ZNF341, STAT3, IL6ST, or…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.