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BMC Infectious Diseases

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Open Access 01-12-2021 | Stomatitis Aphthosa | Case report

Chronic Candida infection, bronchiectasis, immunoglobulin abnormalities, and stunting: a case report of a natural mutation of STAT1 (c.986C>G) in an adolescent male

Authors: Yali Yu, Fei Xu, Hui Shen, Jiang Wu

Published in: BMC Infectious Diseases | Issue 1/2021

Abstract

Background

Chronic mucocutaneous candidiasis (CMC) is the most common clinical symptom of singer transducer and signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations. Bronchiectasis is a chronic lung disease that is characterized by permanent bronchiectasis, causing cough, expectoration, and even haemoptysis. The underlying pathogeny is not yet clear. Immunoglobulin (Ig) A is derived from memory B cells and correlates with immune-related diseases. STAT1 is closely associated with signal transmission and immune regulation.

Case presentation

We report a 17-year-old male patient carrying a GOF mutation in STAT1. The variant led to CMC, bronchiectasis, and elevated serum IgA levels, as well as stunting. Whole-exome sequencing (WES) revealed a c.986C>G (p.P329R) heterozygous mutation in the STAT1 gene.

Conclusion

Further Sanger sequencing analysis of STAT1 in the patient and his parents showed that the patient harboured a de novo mutation.

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Title: Chronic Candida infection, bronchiectasis, immunoglobulin abnormalities, and stunting: a case report of a natural mutation of STAT1 (c.986C>G) in an adolescent male
Authors: Yali Yu
Fei Xu
Hui Shen
Jiang Wu
Publication date: 01-12-2021
Publisher: BioMed Central
Keywords: Stomatitis Aphthosa
Candidiasis
Candidiasis
Bronchiectasis
Published in: BMC Infectious Diseases / Issue 1/2021
Electronic ISSN: 1471-2334
DOI: https://doi.org/10.1186/s12879-020-05734-9

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Abstract

Background

Case presentation

Conclusion

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