Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy

IPEX syndrome (Immune dysregulation, Polyendocrinopathy, X‐linked) should be tested for in males under 6 months old presenting with diabetes, even without other IPEX features. Early diagnosis and bone marrow transplantation can improve outcomes.

Detalles Bibliográficos
Autores principales: Kadakia, Sejal, Farnaes, Lauge, Dimmock, David, Chowdhury, Shimul, Ding, Yan, Anderson, Eric J., Kingsmore, Stephen, Newfield, Ron S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878034/
https://www.ncbi.nlm.nih.gov/pubmed/31788263
http://dx.doi.org/10.1002/ccr3.2438
Descripción
Sumario:IPEX syndrome (Immune dysregulation, Polyendocrinopathy, X‐linked) should be tested for in males under 6 months old presenting with diabetes, even without other IPEX features. Early diagnosis and bone marrow transplantation can improve outcomes.

Ejemplares similares