Immunoglobulin G4-Related Disease (IgG4-RD) Presenting As Multiple Myeloma
Poster Dec 12, 2017
Sultan Alandijani MD, Dennis Ledford MD, and Richard Lockey MD
IgG4-RD is a rare syndrome with various presentations including eosinophilia, elevated serum IgG4, organ swelling and lymphadenopathy.
The etiology of IgG4-RD is unknown and requires a tissue biopsy typically showing extensive lymphocyte and plasma cells infiltration, IgG4 immunoblasts, storiform fibrosis (fibrosis in a cartwheel distribution), eosinophil tissue infiltration and obliterative phlebitis. Elevated serum IgG4 levels or eosinophilia may be present.
Treatment with systemic glucocorticosteroids is recommended in symptomatic and asymptomatic cases involving kidney or pancreas.
Genome-wide association studies (GWAS) have identified more than 100 genetic loci associated with type 2 diabetes. The majority of these are located in the intergenic or intragenic regions suggesting that the implicated variants may alter chromatin conformation. This, in turn, is likely to influence the expression of nearby or more remotely located genes to alter beta cell function. At present, however, detailed molecular and functional analyses are still lacking for most of these variants. We recently analysed one of these loci and mapped five causal variants in an islet-specific enhancer cluster within the STARD10 gene locus. Here, we aimed to understand how these causal variants influence b-cell function by alteration of the chromatin structure of enhancer clusterREAD MORE