Endocrine Abstracts

Genetic predisposition to autoimmunity is probably predominant. Major histocompatibility complex (MHC) alleles and non-MHC loci such as polymorphism of the cytotoxic T lymphocyte antigen-4 (CTLA4) gene have been identified as susceptibility markers. The autoimmune thyroid diseases are the most common organ-specific autoimmune diseases. They are characterized by the infiltration of the parenchyma by immune cells including T and B cells as well as macrophages. Ones a T cell is a...

Purpose: Osteopathy/osteoporosis in Gaucher disease type 1 (GD1) shows variable responses to enzyme replacement therapy (ERT); the pathogenesis is incompletely understood. We aimed to investigate the effect of several gene variants on bone mineral density (BMD) and serum markers of bone metabolism in GD1.Patients/methods: 50 adult Caucasian patients with GD1/117 controls were genotyped for gene variants in the osteoprotegerin (TNFRSF11B; OPG), estrogen r...