STAT 1 mutation associated with chronic mucocutaneous candidiasis and pancytopenia

Abstract

Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent fungal infections of the skin, mucosa and nails and is commonly associated with primary immune-deficiency states, autoimmune polyendocrinopathy syndrome and Hyper-IgE syndrome1 . STAT mutations are the commonest mutations associated with CMC2 . We present a young boy who was diagnosed CMC and pancytopenia.