Matches in SemOpenAlex for { <https://semopenalex.org/work/W2560549076> ?p ?o ?g. }
- W2560549076 abstract "Significance Chronic mucocutaneous candidiasis (CMC) is defined as persistent or recurrent infections of the skin and/or mucosae by commensal fungi of the Candida genus. It is often seen in patients with T-cell deficiencies, whether inherited or acquired, who typically suffer from multiple infectious diseases. Rare patients are otherwise healthy and display isolated CMC, which often segregates as a Mendelian trait. In 2011, we described the first genetic cause of isolated CMC, with autosomal recessive (AR), complete IL-17 receptor A (IL-17RA) deficiency, in a single patient. We report here 21 patients from 12 unrelated kindreds, homozygous for 12 different mutant alleles that underlie AR IL-17RA deficiency. All patients have isolated CMC and their cells do not respond to IL-17A, -17F, and -17E/IL-25." @default.
- W2560549076 created "2016-12-16" @default.
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- W2560549076 date "2016-12-07" @default.
- W2560549076 modified "2023-10-18" @default.
- W2560549076 title "Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency" @default.
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