STAT 1 mutation associated with chronic mucocutaneous candidiasis and pancytopenia.
Pediatr Allergy Immunol. 2021 Jan 09;:
Authors: Dabas A, Arora P, Kumar S, Kapoor S, Yadav S
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.
PMID: 33421196 [PubMed - as supplied by publisher]