Searchable abstracts of presentations at key conferences in endocrinology

ea0005p255 | Thyroid | BES2003

Preliminary evidence for genetic heterogeneity in the autoimmune polyendocrinopathy and enteropathy syndrome (IPEX)

Owen C , Jennings C , Imrie H , Lachaux A , Bridges N , Cheetham T , Pearce S

The immune dysregulation, polyendocrinopathy and enteropathy, X-linked syndrome (IPEX), is a rare and devastating condition of male infants. Immune mediated diabetes and enteropathy occur before 6 months of age and other manifestations include hypothyroidism, recurrent infections and eczema. In 2001, IPEX was mapped to Xp11, an orthologous region to that for the murine model of T cell dysregulation, scurfy, and mutations in the forkhead transcription factor gene, FOXP3,...