Chronic mucocutaneous candidiasis

Definition:

Chronic mucocutaneous candidiasis (CMC) is manifested as a primary immunodeficiency characterized by persistent or recurrent infections of the mucosa or the skin with candida species. Most cases are sporadic, but both autosomal dominant inheritance and autosomal recessive inheritance have been described. It has been reported that CMC is caused by mutations in components of a signaling pathway involving the cytokine interleukin-17.

References:

[1]. Anne Puel, et al. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science. 2011 Apr 1;332(6025):65-8. [Content Brief]

[2]. Bart Ferwerda, et al. Human dectin-1 deficiency and mucocutaneous fungal infections. N Engl J Med. 2009 Oct 29;361(18):1760-7. [Content Brief]

[3]. Bertrand Boisson, et al. An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. Immunity. 2013 Oct 17;39(4):676-86. [Content Brief]

[4]. Erik-Oliver Glocker, et al. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med. 2009 Oct 29;361(18):1727-35. [Content Brief]

[5]. Luyan Liu, et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med. 2011 Aug 1;208(8):1635-48. [Content Brief]

[6]. Yun Ling, et al. Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis. J Exp Med. 2015 May 4;212(5):619-31. [Content Brief]

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