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Chronic Mucocutaneous Candidiasis due to Signal Transducer and Activator of Transcription 1 (STAT 1) Mutation in an Indian Patient – A Case Report
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 inc...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer - Medknow
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8809172/ https://www.ncbi.nlm.nih.gov/pubmed/35198474 http://dx.doi.org/10.4103/idoj.IDOJ_898_20 |
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author | Balasundaram, Abyramy George, Renu Abraham, Aby Michael, Joy S. |
author_facet | Balasundaram, Abyramy George, Renu Abraham, Aby Michael, Joy S. |
author_sort | Balasundaram, Abyramy |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-8809172 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Wolters Kluwer - Medknow |
record_format | MEDLINE/PubMed |
spelling | pubmed-88091722022-02-22 Chronic Mucocutaneous Candidiasis due to Signal Transducer and Activator of Transcription 1 (STAT 1) Mutation in an Indian Patient – A Case Report Balasundaram, Abyramy George, Renu Abraham, Aby Michael, Joy S. Indian Dermatol Online J Case Report 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. Wolters Kluwer - Medknow 2022-01-24 /pmc/articles/PMC8809172/ /pubmed/35198474 http://dx.doi.org/10.4103/idoj.IDOJ_898_20 Text en Copyright: © 2022 Indian Dermatology Online Journal https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Balasundaram, Abyramy George, Renu Abraham, Aby Michael, Joy S. Chronic Mucocutaneous Candidiasis due to Signal Transducer and Activator of Transcription 1 (STAT 1) Mutation in an Indian Patient – A Case Report |
title | Chronic Mucocutaneous Candidiasis due to Signal Transducer and Activator of Transcription 1 (STAT 1) Mutation in an Indian Patient – A Case Report |
title_full | Chronic Mucocutaneous Candidiasis due to Signal Transducer and Activator of Transcription 1 (STAT 1) Mutation in an Indian Patient – A Case Report |
title_fullStr | Chronic Mucocutaneous Candidiasis due to Signal Transducer and Activator of Transcription 1 (STAT 1) Mutation in an Indian Patient – A Case Report |
title_full_unstemmed | Chronic Mucocutaneous Candidiasis due to Signal Transducer and Activator of Transcription 1 (STAT 1) Mutation in an Indian Patient – A Case Report |
title_short | Chronic Mucocutaneous Candidiasis due to Signal Transducer and Activator of Transcription 1 (STAT 1) Mutation in an Indian Patient – A Case Report |
title_sort | chronic mucocutaneous candidiasis due to signal transducer and activator of transcription 1 (stat 1) mutation in an indian patient – a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8809172/ https://www.ncbi.nlm.nih.gov/pubmed/35198474 http://dx.doi.org/10.4103/idoj.IDOJ_898_20 |
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