Tissue specificityHighly expressed in spleen. Also detected in liver, placenta, lung, peripheral blood leukocytes and in brain.
Involvement in diseaseDefects in CARD9 are the cause of familial candidiasis type 2 (CANDF2) [MIM:212050]. Chronic mucocutaneous candidiasis is characterized by impaired clearance of fungal infections and results in colonization and infections of the mucosa or skin, predominantly with Candida albicans. CANDF2 is an autosomal recessive chronic mucocutaneous candidiasis.