Common variable immunodeficiency and the gastrointestinal tract

Abstract

Common variable immunodeficiency (CVID) is the second most prevalent primary immunodeficiency disorder but clinically the most important. It causes a wide spectrum of symptoms and signs affecting many systems of the body. CVID is a combination of humoral and cell-mediated deficiency, which explains not only why so many systems are affected but also why standard therapy in the form of intravenous immunoglobulin is not always effective. The gastrointestinal tract is the largest immune organ in the body, and it is therefore expected that this immunodeficiency will affect it in some way. The gastrointestinal manifestations of CVID are variable and tend to mimic known diseases, such as celiac sprue, pernicious anemia, and inflammatory bowel disease, but show significant differences on the microscopic level. Many studies continue to confirm a high prevalence of inflammatory, malignant, and infectious gastrointestinal disorders in patients with CVID. The T-cell-mediated defects of this immunodeficiency disorder are thought to be the cause of the majority of the gastrointestinal disorders in CVID and not the antibody deficiency. Therefore, intravenous immunoglobulin alone may be ineffective. Combination therapy with immunomodulators, such as azathioprine and 6-mercaptopurine, may be needed to treat these gastrointestinal manifestations of CVID.

A difficult diagnosis of coeliac disease: Repeat duodenal histology increases diagnostic yield in patients with concomitant causes of villous atrophy

“…Gastrointestinal symptoms or intestinal lesions are frequently seen (up to 50%) in patients with CVID [4,12], diarrhoea, abdominal pain, weight loss and anaemia being the most common [5][6][7][8]. In 30% of cases, gastrointestinal involvement was demonstrated to be the result of infestations with Giardia lamblia, a protozoan parasite whose presence in the small intestine of these patients is facilitated by the absence of secretory immunoglobulin (Ig) A, a hallmark in most patients with CVID.…”

“…In 30% of cases, gastrointestinal involvement was demonstrated to be the result of infestations with Giardia lamblia, a protozoan parasite whose presence in the small intestine of these patients is facilitated by the absence of secretory immunoglobulin (Ig) A, a hallmark in most patients with CVID. [5,7]. In a significant percentage of patients, however, intestinal lesions are not caused by infectious/parasitic agents.…”

“…[7,8]. In particular, Crohn's disease-like lesions [7][8][9]13] and lymphoid nodular hyperplasia [5,6,10,11,13] have been described, as well as a condition atrophy of the duodenal mucosa characterized by villous atrophy, crypt hypertrophy, and an increase of T-lymphocyte infiltrate [5][6][7][8]13,14]. This finding is similar to the histopathologic alterations found in untreated CD; however in CD patients, a variable degree of villous atrophy is usually associated with highly sensitive and specific serum antibodies, as anti-endomysial, and anti-tissue transglutaminase antibodies.…”

Common variable immunodeficiency –

“…Pseudomonas aeruginosa and Moraxella catarrhalis [36][37][38]. Infections of the nervous system: meningitis, encephalities and brain abscesses may also be rare but life-threatening manifestation of CVID.…”

“…Infections of the nervous system: meningitis, encephalities and brain abscesses may also be rare but life-threatening manifestation of CVID. They are usually caused by S. pneumoniae, H. influenzae, S. aureus [25,38], but also by viral infections, especially enteroviruses [35]. CVID patients have a tendency to form granulomas, which conforms it to sarcoidosis [39].…”