Several fundamental questions concerning the relationships between gut microbiota and the development of chronic inflammatory conditions, autoimmune disorders or cancer in CVID patients remain unanswered. The molecular pathways by which gut microbiota contribute to systemic inflammation and possibly tumorigenesis in CVID patients remain poorly understood. Mouse models for CVID unsatisfactorily recapitulate the polygenic causes of human CVID. CVID patients with enteropathy exhibit decreased IgA expression in duodenal tissue. In addition, these patients can exhibit increased plasma levels of lipopolysaccharide (LPS) and markers (sCD14 and sCD25) of systemic immune cell activation. Overall, the results suggest that in CVID patients there is a reduction of alpha and beta diversity compared to controls. Few studies have started to investigate the gut microbiota profile in CVID patients.
Immune dysfunction in CVID can frequently involve the gastrointestinal tract and lung. The vast majority of CVID patients have polygenic inheritance.
Common variable immunodeficiency (CVID) is the most common symptomatic primary antibody immunodeficiency, characterized by reduced serum levels of IgG, IgA, and/or IgM.