{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T12:39:13Z","timestamp":1791895153482,"version":"4.3.4"},"reference-count":70,"publisher":"Rockefeller University Press","issue":"5","content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2015,5,4]]},"abstract":"<jats:p>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\u2013 and ACT1-deficient patients tested, the response to IL-17E (IL-25) is maintained in these IL-17RC\u2013deficient patients. These experiments of nature indicate that human IL-17RC is essential for mucocutaneous immunity to C. albicans but is otherwise largely redundant.<\/jats:p>","DOI":"10.1084\/jem.20141065","type":"journal-article","created":{"date-parts":[[2015,4,27]],"date-time":"2015-04-27T21:31:40Z","timestamp":1430170300000},"page":"619-631","update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":183,"title":["Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis"],"prefix":"10.1084","volume":"212","author":[{"given":"Yun","family":"Ling","sequence":"first","affiliation":[{"name":"Laboratory of Human Genetics of Infectious Diseases, Necker Branch, French Institute of Health and Medical Research (INSERM) U1163, 75015 Paris, France 1"},{"name":"Imagine Institute, Paris Descartes University, 75015 Paris, France 2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Cypowyj","sequence":"additional","affiliation":[{"name":"St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065 3"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caner","family":"Aytekin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology, Dr. Sami Ulus Maternity and Children\u2019s Health and Diseases Training and Research Hospital, 06080 Ankara, Turkey 4"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miguel","family":"Galicchio","sequence":"additional","affiliation":[{"name":"Victor J. 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