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Chronic Mucocutaneous Candidosis due to Gain-of-Function Mutation in STAT1

Carey, B; Lambourne, J; Porter, S; Hodgson, T; (2019) Chronic Mucocutaneous Candidosis due to Gain-of-Function Mutation in STAT1. Oral Diseases , 25 (3) pp. 684-692. 10.1111/odi.12881. Green open access

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Abstract

Chronic mucocutaneous candidiasis (CMC) is a heterogenous group of primary immunodeficiency diseases characterised by susceptibility to chronic or recurrent superficial Candida infection of skin, nails and mucous membranes. Gain-of-function mutations in the STAT1 gene (STAT1-GOF) are the most common genetic aetiology for CMC, and mutation analysis should be considered. These mutations lead to defective responses in type 1 and type 17 helper T cells (Th1 and Th17), which, depending on the mutation, also predispose to infection with Staphylococci, Mycobacteria & Herpesviridae. We describe the clinical and genetic findings for three patients with CMC due to gain-of-function mutations in the STAT1 gene. This article is protected by copyright. All rights reserved.

Type: Article
Title: Chronic Mucocutaneous Candidosis due to Gain-of-Function Mutation in STAT1
Location: Denmark
Open access status: An open access version is available from UCL Discovery
DOI: 10.1111/odi.12881
Publisher version: http://dx.doi.org/10.1111/odi.12881
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Antifungal agents, Candida, Chronic Mucocutaneous Candidiasis, Immunologic Deficiency Syndromes, Interleukin-17, STAT1 Transcription Factor, point mutation
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Eastman Dental Institute
URI: https://discovery.ucl.ac.uk/id/eprint/10048319
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