期刊
SCIENCE
卷 332, 期 6025, 页码 65-68出版社
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/science.1200439
关键词
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资金
- INSERM
- University Paris Descartes
- Rockefeller University
- Rockefeller University CTSA [5UL1RR024143-04]
- St. Giles Foundation
- Candidoser association
Chronic mucocutaneous candidiasis disease (CMCD) is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae caused by Candida albicans and, to a lesser extent, Staphylococcus aureus, in patients with no other infectious or autoimmune manifestations. We report two genetic etiologies of CMCD: autosomal recessive deficiency in the cytokine receptor, interleukin-17 receptor A (IL-17RA), and autosomal dominant deficiency of the cytokine interleukin-17F (IL-17F). IL-17RA deficiency is complete, abolishing cellular responses to IL-17A and IL-17F homo-and heterodimers. By contrast, IL-17F deficiency is partial, with mutant IL-17F-containing homo-and heterodimers displaying impaired, but not abolished, activity. These experiments of nature indicate that human IL-17A and IL-17F are essential for mucocutaneous immunity against C. albicans, but otherwise largely redundant.
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