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Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset
- Source :
- Journal of clinical research in pediatric endocrinology. 14(3)
- Publication Year :
- 2021
-
Abstract
- Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an early onset systemic autoimmune genetic disorder caused by mutation of the forkhead box protein 3 (FOXP3) gene. Enteropathy, endocrinopathy and skin manifestations are considered the classic triad of IPEX syndrome. However, the patients with IPEX syndrome display a variety of phenotypes including life threatening multi-organ autoimmunity. Here, we present the case of two siblings with IPEX syndrome with the same hemizygous mutation, but with different types of symptomology at onset of the disease.
- Subjects :
- Diarrhea
Endocrinology, Diabetes and Metabolism
Disease
medicine.disease_cause
Autoimmunity
Endocrinology
medicine
Humans
Enteropathy
Polyendocrinopathies, Autoimmune
Mutation
business.industry
Siblings
Genetic disorder
FOXP3
Forkhead Transcription Factors
Genetic Diseases, X-Linked
Syndrome
Immune dysregulation
IPEX syndrome
medicine.disease
Intestinal Diseases
Diabetes Mellitus, Type 1
Immune System Diseases
Pediatrics, Perinatology and Child Health
Immunology
business
Subjects
Details
- ISSN :
- 13085735
- Volume :
- 14
- Issue :
- 3
- Database :
- OpenAIRE
- Journal :
- Journal of clinical research in pediatric endocrinology
- Accession number :
- edsair.doi.dedup.....ba6c64780daa8f57929288907f22c1b1