Very early onset inflammatory bowel disease hand, other types of primary immunodeficiency can often manifest with IBD-like symptoms, too. These include the IPEX syndrome, Wiskott-Aldrich syndrome, XIAP syndrome or chronic granulomatous disease. Inflammatory bowel diseases (IBDs), such as Crohn Disease (CD) or Ulcerative Colitis (UC), are chronic inflammatory conditions of the gastrointestinal tract. Up-to-date findings show that the pathogenesis is influenced by both environmental and genetic factors. A considerable number of monogenic disorders can be found especially among patients with VEOIBD. Causal mutations can be found in genes involved in epithelial barrier formation (COL7A1, FERMT1), innate (CYBB, G6PC3), as well as the specific immune response and
Adult polyglucosan body disease cases had been reported in the medical literature as of 2016. As of 2016 the largest set of case studies included 50 people; about 70% of them were of Ashkenazic Jewish descent. A person with APBD named Gregory Weiss created a foundation, the Adult Polyglucosan Body Disease Research Foundation, to fund research into the disease and its management. In 2015 the first transgenic mouse that appeared to be a useful model organism for studying APBD was published. Adult polyglucosan body disease Adult polyglucosan body disease (APBD) is an orphan disease and a glycogen storage disorder that is caused by an