Endocrine Abstracts

Sialic acid acetylesterase (SIAE) has been found to be essential for the maintenance of immune tolerance in mice by negatively regulating B lymphocyte antigen receptor signalling. Recently, numerous rare heterozygous loss-of-function germline variants and a homozygous functionally defective variant of the SIAE gene (M89V) have been identified as conferring a strong genetic susceptibility to several autoimmune disorders, including T1DM and rheumatoid arthritis. We performed a c...

Background: Immune responses to self-peptides should not generally occur. However, four of 12 autoimmune Addison’s disease (AAD) patients developed adverse reactions immediately after synacthen injections, following repeated subcutaneous synacthen injections during a clinical trial (RoSA study). We wondered if these adverse effects were due to the production of anti-synacthen (ACTH1–24) antibodies.Methods: We evaluated the presence o...

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...

Autoimmune Addison’s disease (AAD) is a rare, highly heritable endocrinopathy with an estimated λsibling (ratio of risk to a sibling vs the unrelated background population) of 160–210. The majority of the genetic risk to AAD has yet to be accounted for. We have used a tag-SNP approach to seek association between single nucleotide polymorphisms (SNPs) in the GATA3 gene and autoimmune Addison’s disease (AAD). 2001 AAD cases and 1898 controls were included in ...