title: Life-threatening autoimmunity with diabetes: management with an insulin pump.
abstract: A 2-yr-old boy presented initially with type 1 diabetes (T1D). Over the next 9 yrs, he developed multiple autoimmune conditions including Evans' syndrome, alopecia, and autoimmune bowel disease. Autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy (APECED) syndrome was considered, but no mutations were found in the autoimmune regulator-1 (AIRE-1) gene, making this diagnosis unlikely, and he did not fulfill the clinical criteria for immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. We describe the challenges created by the combination of these diseases and how introduction of insulin pump therapy revolutionized his care.
authors.affiliation: Maternal and Child Health Sciences, Ninewells Hospital and Medical School, Dundee DD1 9SY, UK. v.franklin@dundee.ac.uk
authors.forename: V L
authors.initials: VL
authors.lastname: Franklin
authors.forename: T
authors.initials: T
authors.lastname: Torrance
authors.forename: M
authors.initials: M
authors.lastname: Peebles
authors.forename: R
authors.initials: R
authors.lastname: Wilkie
authors.forename: S
authors.initials: S
authors.lastname: Greene
mesh_terms: D015551:Autoimmunity; D002940:Circadian Rhythm; D003922:Diabetes Mellitus, Type 1 / Q000188:drug therapy* / Q000276:immunology*; D006801:Humans; D007223:Infant; D007332:Insulin Infusion Systems; D008297:Male; D018448:Models, Immunological