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.
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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 > 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-pp.ucl.ac.uk/id/eprint/10048319 |
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