Chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 (STAT 1) mutation in an indian patient – A case report

Abstract

Chronic mucocutaneous candidiasis (CMC) is a primary immunodeficiency due to defect in various genes leading to an increase in susceptibility to skin and mucosal infection. Mutation in signal transducer and activator of transcription 1 (STAT 1) gene being the most common cause of CMC can lead to increased risk of infections, multisystem abnormalities, and malignancy. We describe a 27 year old Indian woman with clinical features of CMC including esophageal stenosis, gangrene of the finger, endocrinological and immunological abnormalities and STAT1 mutation (p.Leu407Val). She was treated with antifungals which led to symptomatic improvement.

Keywords

• candida albicans
• candida parapsilosis
• chronic mucocutaneous candidiasis
• signal transducer and activator of transcription 1 (stat 1) mutation