Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset

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....

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Detalles Bibliográficos
Autores principales: Karagüzel, Gülay, Polat, Recep, Abul, Mehtap H., Cebi, Alper Han, Orhan, Fazıl
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9422912/
https://www.ncbi.nlm.nih.gov/pubmed/34044499
http://dx.doi.org/10.4274/jcrpe.galenos.2021.2021.0005

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