Jasmine C Meltzer, Jennifer Strong, Sophia Martinez, Abigail Salancy, Rutha Adhanom, Edward W Cowen, Leslie Castelo-Soccio, Philip M Murphy, David H McDermott, Isaac Brownell
{"title":"WHIM综合征中的顽固性头癣。","authors":"Jasmine C Meltzer, Jennifer Strong, Sophia Martinez, Abigail Salancy, Rutha Adhanom, Edward W Cowen, Leslie Castelo-Soccio, Philip M Murphy, David H McDermott, Isaac Brownell","doi":"10.1093/skinhd/vzae002","DOIUrl":null,"url":null,"abstract":"<p><p>WHIM syndrome is a rare primary immunodeficiency typically caused by autosomal dominant activating mutations in the <i>CXCR4</i> gene. WHIM refers to warts, hypogammaglobulinaemia, infections and myelokathexis, which are the primary phenotypes of the syndrome. Here we describe a case of tinea capitis in a patient with WHIM syndrome that was unresponsive to multiple systemic antifungal treatments for over 10 years. The patient's recalcitrant tinea infection was ultimately cured after treatment with posaconazole. These findings suggest that the <i>CXCR4</i> defects in WHIM syndrome may confer susceptibility to dermatophyte infections.</p>","PeriodicalId":74804,"journal":{"name":"Skin health and disease","volume":"5 1","pages":"41-44"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11924356/pdf/","citationCount":"0","resultStr":"{\"title\":\"Recalcitrant tinea capitis in WHIM syndrome.\",\"authors\":\"Jasmine C Meltzer, Jennifer Strong, Sophia Martinez, Abigail Salancy, Rutha Adhanom, Edward W Cowen, Leslie Castelo-Soccio, Philip M Murphy, David H McDermott, Isaac Brownell\",\"doi\":\"10.1093/skinhd/vzae002\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>WHIM syndrome is a rare primary immunodeficiency typically caused by autosomal dominant activating mutations in the <i>CXCR4</i> gene. WHIM refers to warts, hypogammaglobulinaemia, infections and myelokathexis, which are the primary phenotypes of the syndrome. Here we describe a case of tinea capitis in a patient with WHIM syndrome that was unresponsive to multiple systemic antifungal treatments for over 10 years. The patient's recalcitrant tinea infection was ultimately cured after treatment with posaconazole. These findings suggest that the <i>CXCR4</i> defects in WHIM syndrome may confer susceptibility to dermatophyte infections.</p>\",\"PeriodicalId\":74804,\"journal\":{\"name\":\"Skin health and disease\",\"volume\":\"5 1\",\"pages\":\"41-44\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-01-22\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11924356/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Skin health and disease\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1093/skinhd/vzae002\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/2/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Skin health and disease","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1093/skinhd/vzae002","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/2/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
WHIM syndrome is a rare primary immunodeficiency typically caused by autosomal dominant activating mutations in the CXCR4 gene. WHIM refers to warts, hypogammaglobulinaemia, infections and myelokathexis, which are the primary phenotypes of the syndrome. Here we describe a case of tinea capitis in a patient with WHIM syndrome that was unresponsive to multiple systemic antifungal treatments for over 10 years. The patient's recalcitrant tinea infection was ultimately cured after treatment with posaconazole. These findings suggest that the CXCR4 defects in WHIM syndrome may confer susceptibility to dermatophyte infections.
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