Endocrine Abstracts

Introduction: B lymphocyte activating factor (BAFF), a member of the tumour necrosis factor family, is essential for B cell activation, differentiation and survival. It promotes autoantibody production and as Graves’ disease is caused by thyroid stimulating autoantibodies, it is an excellent functional candidate gene. Indeed, elevated serum BAFF levels have been found in patients with several autoimmune diseases, including Graves’ disease (GD). The T al...

Introduction: B lymphocyte activating factor (BAFF), a member of the tumour necrosis factor family, is essential for B cell activation, differentiation and survival. It promotes autoantibody production and as Graves’ disease is caused by thyroid stimulating autoantibodies, it is an excellent functional candidate gene. Indeed, elevated serum BAFF levels have been found in patients with several autoimmune diseases, including Graves’ disease (GD). The T al...

Due to the rarity of autoimmune Addison’s disease (AAD), it has proved difficult to gather large case cohorts for genetic studies. Linkage analysis offers a powerful means of identifying genetic susceptibility loci but has never been applied to AAD because of the scarcity of families containing ≥2 affected individuals. We collected DNA from 23 such families to perform the first linkage study in AAD.We genotyped 117 samples (50 cases, 67 contro...