{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T11:53:59Z","timestamp":1782302039319,"version":"3.54.5"},"reference-count":15,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2019,10,29]],"date-time":"2019-10-29T00:00:00Z","timestamp":1572307200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Cutan Pathol"],"published-print":{"date-parts":[[2020,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Caspase Recruitment Domain Family Member 9 (CARD9) is an adaptor molecule that drives antifungal activity of macrophages and neutrophils in the skin. Autosomal recessive loss\u2010of\u2010function mutations in <jats:italic>CARD9<\/jats:italic> confer increased susceptibility to invasive disease with select fungi in non\u2010immunosuppressed patients. We report on a patient with X\u2010linked ichthyosis complicated by chronic cutaneous invasive dermatophyte infection. We identified a previously reported c.271T&gt;C (p.Y91H) mutation and a novel intronic c.1269+18G&gt;A mutation in <jats:italic>CARD9<\/jats:italic> underlying recurrent deep dermatophytosis in this patient despite various antifungals for over three decades. Our case highlights susceptibility to invasive dermatophytosis related to autosomal recessive <jats:italic>CARD9<\/jats:italic> deficiency and illustrates the range of <jats:italic>CARD9<\/jats:italic> mutations to be pursued in immunocompetent patients with unexplained deep dermatophyte infections. Further studies are needed to define the best therapeutic regimen.<\/jats:p>","DOI":"10.1111\/cup.13574","type":"journal-article","created":{"date-parts":[[2019,8,30]],"date-time":"2019-08-30T14:22:50Z","timestamp":1567174970000},"page":"166-170","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":34,"title":["Novel <i>CARD9<\/i> mutation in a patient with chronic invasive dermatophyte infection (tinea profunda)"],"prefix":"10.1111","volume":"47","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4003-7193","authenticated-orcid":false,"given":"Rosalynn M.","family":"Nazarian","sequence":"first","affiliation":[{"name":"Department of Pathology Massachusetts General Hospital and Harvard Medical School  Boston Massachusetts"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evelyn","family":"Lilly","sequence":"additional","affiliation":[{"name":"Department of Dermatology Massachusetts General Hospital and Harvard Medical 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