Chronic mucocutaneous candidiasis with STAT1 gain-of-function variant: a case report and review of the literature
نویسندگان
چکیده
منابع مشابه
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.
Chronic mucocutaneous candidiasis (CMC) is a heterogeneous group of primary immunodeficiency diseases characterized by chronic and recurrent Candida infections of the skin, nails, and oropharynx. Gain-of-function mutations in STAT1 were very recently shown to be responsible for autosomal-dominant or sporadic cases of CMC. The reported mutations have been exclusively localized in the coiled-coil...
متن کاملChronic mucocutaneous candidiasis with endocrinopathy – case report
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...
متن کاملGain-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 ...
متن کامل[Chronic mucocutaneous candidiasis. A case report].
We present a case of chronic mucocutaneous candidiasis of the chronic diffuse kind. It began at eight months of age with lesions in plaque in the totality of the oral and nasal mucosa with affection of the nails. He received different treatment during ten years, without improvements. The diagnosis was established by clinical features en laboratory exams as follows: Skin test to Candida antigen ...
متن کاملA gain-of-function mutation of STAT1 in a 3-year-old child with chronic mucocutaneous candidiasis and autoimmune hepatitis: a case report
Background Chronic mucocutaneous candidiasis (CMC) is a heterogeneous group of primary immunodeficiency diseases (PID) characterized by chronic and recurrent infections of the skin, nails, and oropharynx, mostly caused by Candida sp. CMC is often associated with autoimmune and endocrine disorders. However, CMC may be the only or the main phenotype in patients with AD IL-17F and AR IL-17RA defic...
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ژورنال
عنوان ژورنال: Frontiers of Oral and Maxillofacial Medicine
سال: 2019
ISSN: 2664-777X
DOI: 10.21037/fomm.2019.09.03