| Autor: |
Gülay Karagüzel, Recep Polat, Mehtap H. Abul, Alper Han Cebi, Fazıl Orhan |
| Jazyk: |
angličtina |
| Rok vydání: |
2022 |
| Předmět: |
|
| Zdroj: |
JCRPE, Vol 14, Iss 3, Pp 361-365 (2022) |
| Druh dokumentu: |
article |
| ISSN: |
1308-5727 |
| DOI: |
10.4274/jcrpe.galenos.2021.2021.0005 |
| Popis: |
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, 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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
|
