Immune dysregulation syndrome caused by
- Author:
An-Qi YAO
1
;
Ke-Ke CHEN
1
;
Xiang-Ling HE
1
;
Xin TIAN
1
Author Information
1. Department of Pediatric Hematologic Oncology, First Affiliated Hospital of Hunan Normal University/Children's Medical Center of Hunan People's Hospital, Changsha 410005, China.
- Publication Type:Journal Article
- MeSH:
Child, Preschool;
Fever;
Heterozygote;
Humans;
Immune System Diseases/genetics*;
Male;
Mutation;
STAT3 Transcription Factor/genetics*;
Syndrome
- From:
Chinese Journal of Contemporary Pediatrics
2021;23(4):397-401
- CountryChina
- Language:Chinese
-
Abstract:
A boy, aged 4 years and 6 months, had disease onset of fever, cough, pale complexion, and weakness, with hepatosplenomegaly, lymphadenectasis, and pancytopenia. He had been having repeated respiratory and digestive tract infections. Gene detection showed a pathogenic heterozygous mutation, c.C2147 > T(p.T716M), in the
