Chronic Mucocutaneous Candidiasis as Primary Immunodeficiency in Children

Abstract

Chronic mucocutaneous candidiasis is a genetically heterogeneous group of disorders associated with mutations in genes STAT1, IL17RA, IL17F, AIRE, STAT3, TYK2, IL12RB1, and IL12B. Chronic mucocutaneous candidiasis can present as a clinical syndrome in primary and secondary immunodeficiency, or distinct nosological entity of primary immunodeficiency. Today the major components of immunopathology of chronic mucocutaneous candidiasis are defects of immune response, mediated by IL-17 and IL-22. The article describes two cases of chronic mucocutaneous candidiasis, associated with mutations in gene STAT1, in children.

Keywords

• chronic mucocutaneous candidiasis
• immunodeficiency
• children