Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy.
Sejal KadakiaLauge FarnaesDavid DimmockShimul ChowdhuryYan DingEric J AndersonStephen KingsmoreRon S NewfieldPublished in: Clinical case reports (2019)
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.