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

Autor:	Abyramy Balasundaram, Renu George, Aby Abraham, Joy S Michael
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	candida albicans candida parapsilosis chronic mucocutaneous candidiasis signal transducer and activator of transcription 1 (stat 1) mutation Dermatology RL1-803
Zdroj:	Indian Dermatology Online Journal, Vol 13, Iss 1, Pp 90-93 (2022)
Druh dokumentu:	article
ISSN:	2229-5178
DOI:	10.4103/idoj.IDOJ_898_20
Popis:	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.
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/4608f05d836643be8f6bab9b9d2863c4 Zobrazit plný text záznamu View record in DOAJ Plný text ve formátu PDF Plný text ve formátu HTML
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