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P110 AIRE gene mutation predisposing chronic mucocutaneous Candidiasis in two kids from a Chinese family
POSTER SESSION 1, SEPTEMBER 21, 2022, 12:30 PM - 1:30 PM: OBJECTIVES: Chronic mucocutaneous candidiasis (CMC) is a group of clinical syndromes characterized by chronic recurrent skin, nails, and mucosal superficial Candida infections. Various gene mutations have been reported to predispose individ...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9510009/ http://dx.doi.org/10.1093/mmy/myac072.P110 |
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author | Ma, Yubo Wang, Xiaowen Li, Ruoyu |
author_facet | Ma, Yubo Wang, Xiaowen Li, Ruoyu |
author_sort | Ma, Yubo |
collection | PubMed |
description | POSTER SESSION 1, SEPTEMBER 21, 2022, 12:30 PM - 1:30 PM: OBJECTIVES: Chronic mucocutaneous candidiasis (CMC) is a group of clinical syndromes characterized by chronic recurrent skin, nails, and mucosal superficial Candida infections. Various gene mutations have been reported to predispose individuals to CMC and its related syndrome. This study aims to study the clinical features and the genetic background underlying two kids of CMC from a Chinese family. METHODS: Clinical and laboratory findings of the two patients were studied, including physical examination, direct microscopic examination, and fungal culture. Genomic DNA of all family members was extracted from peripheral blood leukocytes, and whole-exome sequencing (WES) was performed. RESULTS: A 2-year-old boy and his sister were admitted to the hospital due to recurrent thrush and thickening of their nails. Direct microscopic examination of their nails and the brother's tongue showed branched pseudohyphae and yeast cells, and Candida albicans was identified through fungal culture. The brother also experienced a progressively impaired vision, which was diagnosed as retinitis pigmentosa, causing no light perception in one eye and light perception up to 0.1 in the other. Their parents belonged to the Hui population (a minority population in China) and had a history of consanguineous marriage. Chronic mucocutaneous candidiasis (CMC) was diagnosed, and oral fluconazole was prescribed. After continuous fluconazole treatment for 6 months, the nails and the tongue became normal. These patients are still under follow-up. Due to the recurrent Candida infections and history of consanguineous marriage, genetic susceptibility was suspected. When we compared the WES data with all genes reported to be related to CMC, a homozygous mutation in the AIRE gene was noted (C. 769 C >T, p. Arg257Ter) in both patients. The parents were heterozygous carriers of the variant. CONCLUSION: In this study, we identified two CMC patients of Chinese harboring AIRE mutations. These patients remind us the importance of genetic analysis in management of CMC, which then help to adjust the time of treatment, as well as to predict and early detect related complications. |
format | Online Article Text |
id | pubmed-9510009 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-95100092022-09-26 P110 AIRE gene mutation predisposing chronic mucocutaneous Candidiasis in two kids from a Chinese family Ma, Yubo Wang, Xiaowen Li, Ruoyu Med Mycol Oral Presentations POSTER SESSION 1, SEPTEMBER 21, 2022, 12:30 PM - 1:30 PM: OBJECTIVES: Chronic mucocutaneous candidiasis (CMC) is a group of clinical syndromes characterized by chronic recurrent skin, nails, and mucosal superficial Candida infections. Various gene mutations have been reported to predispose individuals to CMC and its related syndrome. This study aims to study the clinical features and the genetic background underlying two kids of CMC from a Chinese family. METHODS: Clinical and laboratory findings of the two patients were studied, including physical examination, direct microscopic examination, and fungal culture. Genomic DNA of all family members was extracted from peripheral blood leukocytes, and whole-exome sequencing (WES) was performed. RESULTS: A 2-year-old boy and his sister were admitted to the hospital due to recurrent thrush and thickening of their nails. Direct microscopic examination of their nails and the brother's tongue showed branched pseudohyphae and yeast cells, and Candida albicans was identified through fungal culture. The brother also experienced a progressively impaired vision, which was diagnosed as retinitis pigmentosa, causing no light perception in one eye and light perception up to 0.1 in the other. Their parents belonged to the Hui population (a minority population in China) and had a history of consanguineous marriage. Chronic mucocutaneous candidiasis (CMC) was diagnosed, and oral fluconazole was prescribed. After continuous fluconazole treatment for 6 months, the nails and the tongue became normal. These patients are still under follow-up. Due to the recurrent Candida infections and history of consanguineous marriage, genetic susceptibility was suspected. When we compared the WES data with all genes reported to be related to CMC, a homozygous mutation in the AIRE gene was noted (C. 769 C >T, p. Arg257Ter) in both patients. The parents were heterozygous carriers of the variant. CONCLUSION: In this study, we identified two CMC patients of Chinese harboring AIRE mutations. These patients remind us the importance of genetic analysis in management of CMC, which then help to adjust the time of treatment, as well as to predict and early detect related complications. Oxford University Press 2022-09-20 /pmc/articles/PMC9510009/ http://dx.doi.org/10.1093/mmy/myac072.P110 Text en © The Author(s) 2022. Published by Oxford University Press on behalf of The International Society for Human and Animal Mycology. https://creativecommons.org/licenses/by-nc-nd/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs licence (https://creativecommons.org/licenses/by-nc-nd/4.0/), which permits non-commercial reproduction and distribution of the work, in any medium, provided the original work is not altered or transformed in any way, and that the work is properly cited. For commercial re-use, please contact journals.permissions@oup.com |
spellingShingle | Oral Presentations Ma, Yubo Wang, Xiaowen Li, Ruoyu P110 AIRE gene mutation predisposing chronic mucocutaneous Candidiasis in two kids from a Chinese family |
title | P110 AIRE gene mutation predisposing chronic mucocutaneous Candidiasis in two kids from a Chinese family |
title_full | P110 AIRE gene mutation predisposing chronic mucocutaneous Candidiasis in two kids from a Chinese family |
title_fullStr | P110 AIRE gene mutation predisposing chronic mucocutaneous Candidiasis in two kids from a Chinese family |
title_full_unstemmed | P110 AIRE gene mutation predisposing chronic mucocutaneous Candidiasis in two kids from a Chinese family |
title_short | P110 AIRE gene mutation predisposing chronic mucocutaneous Candidiasis in two kids from a Chinese family |
title_sort | p110 aire gene mutation predisposing chronic mucocutaneous candidiasis in two kids from a chinese family |
topic | Oral Presentations |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9510009/ http://dx.doi.org/10.1093/mmy/myac072.P110 |
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