Pathogenesis and treatment of gastrointestinal disease in antibody deficiency syndromes

Primary humoral immune deficiencies are characterized by limited antibody responses secondary to either impaired B-lymphocyte development or B-cell responses to T-lymphocyte signals. Given that the gastrointestinal tract is the largest lymphoid organ in the body, it is not surprising that intestinal diseases are common in immunodeficiency. These gastrointestinal diseases can be classified into one of 4 groups, infection, malignancy, inflammatory, and autoimmune, and can mimic other known disease processes, such as inflammatory bowel disease and celiac sprue. The exact pathogenesis of these gastrointestinal disorders in the setting of systemic immunodeficiency is still under investigation. However, studies suggest that defects in antibody deficiency alone do not result in gastrointestinal disease but rather that defects in cellular immunity are also involved. Treatment is difficult given an already immunocompromised state, and often therapy with immunomodulators is required for more severe processes.

Key words: Immunodeficiency, gastrointestinal disease, humoral immunodeficiency, inflammatory intestinal disease

Abbreviations used: CVID, Common variable immunodeficiency, IBD, Inflammatory bowel disease, IVIG, Intravenous immunoglobulin, NLH, Nodular lymphoid hyperplasia, XLA, X-linked agammaglobulinemia