Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis


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Ling Y., Cypowyj S., Aytekin C., Galicchio M., Camcioglu Y. , Nepesov S., ...Daha Fazla

JOURNAL OF EXPERIMENTAL MEDICINE, cilt.212, ss.619-631, 2015 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 212 Konu: 5
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1084/jem.20141065
  • Dergi Adı: JOURNAL OF EXPERIMENTAL MEDICINE
  • Sayfa Sayıları: ss.619-631

Özet

Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections of the skin, nail, oral, and genital mucosae with Candida species, mainly C. albicans. Autosomal-recessive (AR) IL-17RA and ACT1 deficiencies and autosomal-dominant IL-17F deficiency, each reported in a single kindred, underlie CMC in otherwise healthy patients. We report three patients from unrelated kindreds, aged 8, 12, and 37 yr with isolated CMC, who display AR IL-17RC deficiency. The patients are homozygous for different nonsense alleles that prevent the expression of IL-17RC on the cell surface. The defect is complete, abolishing cellular responses to IL-17A and IL-17F homo- and heterodimers. However, in contrast to what is observed for the IL-17RA- and ACT1-deficient patients tested, the response to IL-17E (IL-25) is maintained in these IL-17RC-deficient patients. These experiments of nature indicate that human IL-17RC is essential for mucocutaneous immunity to C. albicans but is otherwise largely redundant.