Endocrinology Flashcards
What is IPEX? What gene mutation is linked with this?
IPEX stands for immune dysfunction, polyendocrinopathy, enteropathy, x linked. Results from mutation in forkhead box protein p3 (foxp3) gene. Necessary for regulatory T cells. Characterised by T1DM, autoimmune enteroparhy, diarrhoea and malabsorption, dermatitis, eosinophilia, elevated igE levels.
What’s is Type 1 and Type 2 APS?
Type 1 autoimmune polyendocrine syndrome is associated with AIRE gene on chromosome 21 with autosomal recessive manner. Manifests with mucocutaneous candidiasis with acquired hypoparathyroidism and Addison’s disease.
Type 2 - alleles of HLA determine the targeting of specific tissues by auto reactive T cells. Leads to organ specific autoimmunity as a result of loss of tolerance. Usually manifests with type 1 diabetes, can be with coeliac, gastritis, vitiligo, primary ovarian insufficiency.
