Clinical features and genetic analysis of a child with late-onset immune dysregulation, polyendocrinopathy, enteropathy, X-Linked syndrome.
10.3760/cma.j.cn511374-20200420-00289
- Author:
Fang ZHOU
1
;
Ruifeng WANG
;
Zhidan YU
;
Suli LI
;
Xiaoqin LI
Author Information
1. Department of Digestion, Children's Hospital Affiliated to Zhengzhou University, Henan Provinicial Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou, Henan 450053, China. lixiaoqinys@126.com.
- Publication Type:Review
- MeSH:
Child, Preschool;
Diabetes Mellitus, Type 1/genetics*;
Diarrhea/genetics*;
Forkhead Transcription Factors/genetics*;
Genetic Diseases, X-Linked/genetics*;
Genetic Testing;
Humans;
Immune System Diseases/genetics*;
Male;
Mutation;
Polyendocrinopathies, Autoimmune/genetics*
- From:
Chinese Journal of Medical Genetics
2021;38(3):255-259
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To report on the clinical features and result of genetic testing for a child featuring immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.
METHODS:Clinical records, genetic testing, laboratory investigation and treatment of the child were summarized in addition with a comprehensive review of the literature.
RESULTS:The 3-year-old boy was administered due to intractable diarrhea, recurrent infections, liver dysfunction and failure to thrive, though no diabetes or skin disorder was observed. Laboratory testing showed elevated liver enzymes and total IgE, decreased albumin and electrolyte imbalance. Gastrointestinal endoscopy revealed erosion and granules in the duodenum, and edema in the terminal ileum and colon. Biopsies showed villous atrophy in the duodenum and terminal ileum. Genetic testing revealed that the patient has carried a missense c.1087A>G (p.I363V) variant in the exon 10 of the FOXP3 gene. He was treated with enteral and parenteral nutrition, anti infection and Sirolimus, and was waiting for hemopoietic stem cell transplantation.
CONCLUSION:Although IPEX syndrome usually occur during infancy, it should not be ruled out solely based on the age, and its presentation can be variable. For male children with refractory diarrhea, autoimmune disorder and growth retardation, the diagnosis should be suspected and confirmed by genetic testing.
