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

Clin Case Rep. 2019 Sep 27;7(11):2123-2127. doi: 10.1002/ccr3.2438. eCollection 2019 Nov.

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.

Keywords: X‐linked; autoimmunity; bone marrow transplantation; diabetes mellitus; infant.

Publication types

  • Case Reports