Primary immunodeficiency and chronic mucocutaneous candidiasis pathophysiological, diagnostic, and therapeutic approaches

Abstract

Chronic mucocutaneous candidiasis (CMC) is characterized by a chronic or recurrent non-invasiveinfection, mainly due to Candida albicans, in skin, nails, and mucous membranes, associatedin some cases with autoimmune manifestations. The key immune defect is a disruptionof the action of cytokine IL-17, whose most common genetic etiology is STAT1 gene gainof-function (GOF) mutations. The initial appropriate treatment for fungal infections is withazoles. However, the frequent occurrence of drug resistance is the main limitation. Therefore,identification of the underlying inborn error if immunity in CMC may allow to widen therapeuticoptions aimed at restoring immunological function. Type I and II Janus kinase-inhibitorshave been shown to control CMC in cases associated with STAT1 GOF. In this review, wedelve into the pathogenesis of CMC and the underlying immune mechanisms. We describe thereported genetic defects in which CMC is the main manifestation. Diagnostic and therapeuticapproaches for these patients are also offered