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10.1073/pnas.1618300114

http://scihub22266oqcxt.onion/10.1073/pnas.1618300114
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C5187691!5187691!27930337
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suck abstract from ncbi


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pmid27930337      Proc+Natl+Acad+Sci+U+S+A 2016 ; 113 (51): E8277-85
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  • Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency #MMPMID27930337
  • Lévy R; Okada S; Béziat V; Moriya K; Liu C; Chai LYA; Migaud M; Hauck F; Al Ali A; Cyrus C; Vatte C; Patiroglu T; Unal E; Ferneiny M; Hyakuna N; Nepesov S; Oleastro M; Ikinciogullari A; Dogu F; Asano T; Ohara O; Yun L; Della Mina E; Bronnimann D; Itan Y; Gothe F; Bustamante J; Boisson-Dupuis S; Tahuil N; Aytekin C; Salhi A; Al Muhsen S; Kobayashi M; Toubiana J; Abel L; Li X; Camcioglu Y; Celmeli F; Klein C; AlKhater SA; Casanova JL; Puel A
  • Proc Natl Acad Sci U S A 2016[Dec]; 113 (51): E8277-85 PMID27930337show ga
  • 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.
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