The State of Affairs in Chronic Mucocutaneous Candidiasis

STAT1 mutations and resultant defective Th1 and Th17 responses underlie autosomal dominant CMC.

Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency characterized by susceptibility to candidal infections of skin, nails, and mucous membranes. Multiple variants, such as autoimmune polyendocrinopathy candidiasis with ectodermal dystrophy (APECED), can be linked to mutations in the autoimmune regulator gene AIRE, but until now, no culprit had been identified for autosomal dominant (AD) CMC. Other associated features can include susceptibility to bacterial infections, antibody deficiencies, and chronic skin and mucosal erosions.

To test which immune pathways were affected in patients with AD CMC, researchers isolated peripheral blood mononuclear cells from 14 members of five families with the disease and stimulated the cell…

Reviewing Author

Kenneth Y. Tsai, MD, PhD

Disclosures

Grant / Research support American Association for Cancer Research – Landon Foundation; National Institutes of Health/National Cancer Institute; Cancer Prevention Research Institute of Texas

Editorial BoardsJournal of the American Academy of Dermatology

Kenneth Y. Tsai, MD, PhD

Disclosures

Grant / Research support American Association for Cancer Research – Landon Foundation; National Institutes of Health/National Cancer Institute; Cancer Prevention Research Institute of Texas

Editorial BoardsJournal of the American Academy of Dermatology

The State of Affairs in Chronic Mucocutaneous Candidiasis

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Reviewing Author