Primary Genetic Disorders Associated with Ibd

Name Genetic Association Phenotype Turner's syndrome Loss of part or all of X chromosome Associated with UC and colonic CD Hermansky-Pudlak Autosomal recessive chromosome 10q23 Granulomatous colitis, oculocutaneous albinism, platelet dysfunction, pulmonary fibrosis Wiskott-Aldrich syndrome (WAS) X-linked recessive disorder, loss of WAS protein function Colitis, immunodeficiency, severely dysfunctional platelets, and thrombocytopenia Glycogen Storage disease Deficiency of the glucose-6-phosphate transport protein type B1 Granulomatous colitis, presents in infancy with hypoglycemia, growth failure, hepatomegaly, and neutropenia Immune dysregulation polyendocrinopathy, enteropathy X-linked (IPEX) Loss of FoxP3 transcription factor and T regulatory cell function UC-like autoimmune enteropathy, with endocrinopathy (neonatal type 1 diabetes or thyroiditis), dermatitis Early onset IBD Deficient IL-10 receptor function Severe, refractory IBD in early life