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

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.