Genetische determinanten van chronische mucocutane candidiasis

Chronic mucocutaneous candidiasis (CMC) is a condition characterized by recurrent and/or persistent cutaneous and mucosal candidiasis caused by the fungi Candida. While it can be acquired, it may also indicate an underlying Inborn Error of Immunity (IEI). To date, 18 IEIs have been linked with CMC as one of the major phenotypes, although a genetic cause remains unknown in about half of the cases. Most of these conditions converge on defective TH-17 and/or IL-17-mediated immunity. The characterization of IEIs has shed light on the immune mechanisms involved in human biology, including antifungal immunity, and has significantly improved the management of patients with IEI, such as through the development of targeted therapies. In this research project, two distinct patients with CMC without molecular diagnosis were explored using whole exome sequencing (WES), and the underlying mechanisms of their conditions were investigated