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

Yali Yu,Hui Shen,Jiang Wu,Fei Xu

doi:10.1186/s12879-020-05734-9

Abstract

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

Highlights

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
Further Sanger sequencing analysis of STAT1 in the patient and his parents showed that the patient harboured a de novo mutation
We propose that patients with unexplained chronic aphthous stomatitis, pulmonary bacterial infections, bronchiectasis and an increase in immunoglobulin IgA may carry STAT1 GOF mutations

Summary

Introduction

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. Since STAT1 GOF mutations were first reported in 2011 [16], they have been identified in a growing number of patients and have attracted increasing attention. We report a case of pathogenic STAT1 GOF mutation in a young male in China with severe, recurrent and persistent pulmonary bacterial infections and aphthous stomatitis since childhood and who developed bronchiectasis and increased IgA.

Results

Conclusion