Atypical immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome with secondary hypogammaglobulinemia: a case report and literature review
10.3760/cma.j.cn101070-20240918-00600
- VernacularTitle:非典型X连锁多内分泌腺病、肠病伴免疫失调综合征继发低丙种球蛋白血症1例并文献复习
- Author:
Fangfang LI
1
;
Jing YIN
1
;
Linsheng ZHAO
1
;
Chongwei LI
1
Author Information
1. 天津市儿童医院风湿免疫科，天津 300074
- Publication Type:Journal Article
- Keywords:
Hypogammaglobulinemia;
FOXP3 gene;
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome
- From:
Chinese Journal of Applied Clinical Pediatrics
2025;40(5):382-385
- CountryChina
- Language:Chinese
-
Abstract:
The clinical data, laboratory tests, genetic testing results, diagnosis and treatment process of a child with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome who carried an FOXP3 gene c. 748_750delAAG(p.Lys250del) variant at the Tianjin Children′s Hospital in April 2022 were analyzed retrospectively.Relevant literature was also reviewed.The typical triad of the IPEX syndrome includes intractable diarrhea, type 1 diabetes, and eczematous dermatitis.Since this syndrome is characterized by extensive clinical heterogeneity, the same mutation may have different presentations, and mutation loci are not associated with disease severity and prognosis.The patient reported in this article presented with atypical clinical symptoms without severe systemic damage.The patient developed hypogammaglobulinemia 2 years after diagnosis.The IPEX syndrome with secondary hypogammaglobulinemia usually presents in atypical cases.
