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CVID - Patients are at risk for developing a number of GI tract pathologies including lymphoid nodular hyperplasia and inflammatory bowel disease. An enteropathy with villous blunting (resembling celiac disease) may be present but does not respond to dietary gluten removal. The risk of developing GI tract malignancies (lymphoma, adenocarcinoma) is increased 50 fold.y.  

Chronic Granulomatous Disease
Leukocyte Adhesion Deficiency
Chromosome 22q11.2 Deletion

  Dyskeratosis Congenita



Dyskeratosis Congenita (Hoyeraal-Hreidarsson syndrome) - The severe infant-onset form of disease presents with enteropathy, IUGR, failure to thrive, cerebellar hypoplasia, and combined immunodeficiency. The enteropathy is caused by the premature apoptosis of rapidly dividing gut epithelial cells as telomeres reach critically short lengths (this allows for microbial translocation across the epithelium and triggers inflammation). GI biopsies may reveal the presence of epithelial cell apoptosis identical to gut GVHD. 

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