What gene defect is linked to chronic mucocutaneous candidiasis?

Chronic mucocutaneous candidiasis (CMC) is a condition characterized by persistent and recurrent infections by the Candida species, typically affecting the mucous membranes and skin. The gene defect most closely associated with this condition is related to the AIRE (Autoimmune Regulator) gene.

The AIRE gene plays a crucial role in the immune system's ability to distinguish between self and non-self antigens. It helps in the development of T cells in the thymus, enabling tolerance to self-antigens. A defect in the AIRE gene leads to an inability to eliminate self-reactive T cells, resulting in an autoimmune tendency and impaired immune responses to certain pathogens, including fungi like Candida. Therefore, individuals with AIRE mutations are particularly susceptible to mucocutaneous infections by Candida due to their compromised immune response.

The other gene defects mentioned—IL-2R, BTK, and CD40L—are associated with different immunological conditions. For instance, mutations in the IL-2R gene can lead to severe combined immunodeficiency conditions, while BTK mutations are associated with X-linked agammaglobulinemia, and CD40L mutations can cause hyper-IgM syndrome. None of these specifically link to the susceptibility to