Chronic Mucocutaneous Candidiasis in Humans With Inborn Errors of Interleukin-17 Immunity

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Chronic mucocutaneous candidiasis disease associated with inborn errors of IL-17 immunity

Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections affecting the nails, skin and oral and genital mucosae caused by Candida spp., mainly Candida albicans. CMC is an infectious phenotype in patients with inherited or acquired T-cell deficiency. Patients with autosomal-dominant (AD) hyper IgE syndrome (HIES), AD signal transducer and activator of transc...

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The discovery of interleukin (IL)-17-mediated immunity has provided a robust framework upon which our current understanding of the mechanism involved in host defense against mucocutaneous candidiasis (CMC) has been built. Studies have shed light on how pattern recognition receptors expressed by innate immune cells recognize various components of Candida cell wall. Inborn errors of immunity affe...

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Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here, using whole-exome sequencing, we identified heterozygous germline mutations in STAT1 in 47 patients from 20 kindreds with AD CMCD. Previously described heterozygous STAT1 mutant alleles are loss-of-function and cause AD predisposition ...

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Chronic mucocutaneous candidiasis.

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Chronic mucocutaneous candidiasis (CMC) is characterized by Candida infection of the mucous membrane, scalp, skin and nails. We present a case of a 42-year-old man who was treated twice in the Dermatological Department. He was admitted the first time as a 7-year-old boy because of skin and mucosal lesions and then the diagnosis of granuloma candidamyceticum was established. Thirty-one years lat...

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ژورنال

عنوان ژورنال: Pediatrics

سال: 2011

ISSN: 0031-4005,1098-4275

DOI: 10.1542/peds.2011-2107cccc