Journal Article

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

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

2021

Overview

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.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Abnormalities / Adolescent / Age / Antibiotics / Autoimmune diseases / B-Lymphocytes - immunology / Bacterial and fungal diseases / Bacterial infections / Bronchiectasis / Bronchiectasis - genetics / Bronchiectasis - immunology / Candidiasis / Candidiasis, Chronic Mucocutaneous - diagnosis / Candidiasis, Chronic Mucocutaneous - genetics / Candidiasis, Chronic Mucocutaneous - immunology / Care and treatment / Case Report / Case reports / Causes of / Chronic infection / Chronic mucocutaneous candidiasis / Cough / Development and progression / Diagnosis / Disease / Epidermal growth factor / Gain of Function Mutation / Gain-of-function mutations / Gene mutations / Genetic aspects / Growth disorders / Growth Disorders - genetics / Health aspects / Hematology / Heterozygote / Hospitals / Humans / Hypothyroidism / Immunoglobulin A / Immunoglobulin A - blood / Immunoglobulins / Immunoglobulins - blood / Immunoglobulins - genetics / Immunological memory / Immunoregulation / Infections / Infectious Diseases / Internal Medicine / Kinases / Lung diseases / Lupus / Lymphocytes / Lymphocytes B / Male / Measurement / Medical Microbiology / Medicine / Medicine & Public Health / Memory cells / Mutation / Parasitology / Parents & parenting / Pathogenesis / Patients / Phosphorylation / Proteins / Sequence analysis / Signal transmission / STAT1 / Stat1 protein / STAT1 Transcription Factor - genetics / Stunting / Transcription / Tropical Medicine / Whole Exome Sequencing