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

  title={Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis},
  author={Yun Ling and Sophie Cypowyj and Caner Aytekin and Miguel Galicchio and Yildiz Camcioglu and Serdar Nepesov and Aydan Ikincioğullari and Figen Doğu and Aziz Belkadi and Romain L{\'e}vy and M{\'e}lanie Migaud and Bertrand Boisson and Alexandre Bolze and Yuval Itan and Nicolas Goudin and Julien Cottineau and Capucine Picard and Laurent Abel and Jacinta Bustamante and J. Hugo P{\'e}rez Casanova and Anne Puel},
  booktitle={The Journal of experimental medicine},
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… CONTINUE READING
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  • Boisson-Dupuis, B. Boisson, L. Abel, J. L. Casanova
  • 2014

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