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

oleh: Sejal Kadakia, Lauge Farnaes, David Dimmock, Shimul Chowdhury, Yan Ding, Eric J. Anderson, Stephen Kingsmore, Ron S. Newfield

Format: Article
Diterbitkan: Wiley 2019-11-01

Deskripsi

Abstract 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.