Genetics of Candidiasis

Sci. Signal.  05 Apr 2011:
Vol. 4, Issue 167, pp. ec96
DOI: 10.1126/scisignal.4167ec96

Chronic mucocutaneous candidiasis disease (CMCD) is characterized by chronic or recurring infection with Candida albicans and, to a lesser extent, with Staphylococcus aureus. The underlying cause of CMCD is unknown. Puel et al. (see the Perspective by Dominguez-Villar and Hafler) now report two genetic etiologies associated with CMCD. The first is an autosomal recessive mutation in interleukin-17 (IL-17) receptor A, which prevents its expression. The second is an autosomal dominant mutation in the cytokine IL-17F, which partially reduces its activity. Thus, human IL-17–mediated immunity is required for protection against these mucocutaneous infections.

A. Puel, S. Cypowyj, J. Bustamante, J. F. Wright, L. Liu, H. K. Lim, M. Migaud, L. Israel, M. Chrabieh, M. Audry, M. Gumbleton, A. Toulon, C. Bodemer, J. El-Baghdadi, M. Whitters, T. Paradis, J. Brooks, M. Collins, N. M. Wolfman, S. Al-Muhsen, M. Galicchio, L. Abel, C. Picard, J.-L. Casanova, Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science 332, 65–68 (2011). [Abstract] [Full Text]

M. Dominguez-Villar, D. A. Hafler, An innate role for IL-17. Science 332, 47–48 (2011). [Abstract] [Full Text]