Clinical features and immunotherapy for children with loss-of-function/gain-of-function mutations in the STAT gene: an analysis of 10 cases.
10.7499/j.issn.1008-8830.2502011
- Author:
Hong-Wei LI
1
;
Yan-Hong WANG
1
;
Shang-Zhi WU
1
;
Bi-Yun ZHANG
1
;
Shi-Hui XU
1
;
Jia-Xing XU
1
;
Zhan-Hang HUANG
1
;
Cheng-Yu LU
1
;
De-Hui CHEN
1
Author Information
1. Department of Pediatrics, First Affiliated Hospital of Guangzhou Medical University, Guangzhou 510120, China.
- Publication Type:Journal Article
- Keywords:
Child;
Gain-of-function mutation;
Immunotherapy;
Loss-of-function mutation;
STAT gene
- MeSH:
Humans;
Male;
Immunotherapy;
Female;
Child, Preschool;
Child;
Gain of Function Mutation;
Retrospective Studies;
Infant;
Loss of Function Mutation;
STAT Transcription Factors/genetics*
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(8):951-958
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVES:To investigate the clinical features of children with STAT gene mutations, and to explore corresponding immunotherapy strategies.
METHODS:A retrospective analysis was performed for the clinical data of 10 children with STAT gene mutations who were admitted to the Department of Pediatrics of the First Affiliated Hospital of Guangzhou Medical University, from October 2015 to October 2024. Exploratory immunotherapy was implemented in some refractory cases, and the changes in symptoms, imaging manifestations, and cytokine levels were assessed after treatment.
RESULTS:For the 10 children, the main clinical manifestations were recurrent rash since birth (7/10), cough (8/10), wheezing (5/10), expectoration (4/10), and purulent nasal discharge (4/10). Genotyping results showed that there was one child with heterozygous loss-of-function (LOF) mutation in the STAT1 gene, four children with heterozygous LOF mutation in the STAT3 gene, and five children with heterozygous gain-of-function (GOF) mutation in the STAT3 gene. Two children with LOF mutation in the STAT3 gene showed decreased interleukin-6 levels and improved clinical symptoms and imaging findings after omalizumab treatment. Three children with GOF mutation in the STAT3 gene achieved effective disease control after treatment with methylprednisolone (0.5 mg/kg per day). Two children with GOF mutation in the STAT3 gene received treatment with JAK inhibitor and then showed some improvement in symptoms.
CONCLUSIONS:STAT gene mutation screening should be considered for children with recurrent rash and purulent respiratory tract infections. Targeted immunotherapy may improve prognosis in patients with no response to conventional treatment.
