Gastrointestinal Tract Pathology in Patients With Common Variable Immunodeficiency (CVID)

Abstract

GI tract CVID displays a wide spectrum of histologic patterns. Its features can mimic lymphocytic colitis, collagenous enterocolitis, celiac disease, lymphocytic gastritis, granulomatous disease, acute graft-versus-host disease, and inflammatory bowel disease. In fact, in our series, we found patients with a prior diagnosis of celiac disease (25%) and inflammatory bowel disease (35%), including Crohn disease (15%). The diagnosis of CVID may be suspected on the basis of the lack of plasma cells in a GI biopsy, but because this feature is only present in about two-thirds of patients, the diagnosis cannot always be suggested in isolation of other clinical and laboratory findings.

Collagenous sprue is not always associated with dismal outcomes: a clinicopathological study of 19 patients

“…35 Conversely, before attributing increased intraepithelial lymphocytes to underlying celiac disease, other mimics of celiac disease, which have also been implicated as etiologic agents of collagenous sprue, such as tropical sprue, common variable immunodeficiency and autoimmune enteropathy, should be excluded. 17,18,36 Unusual histological features observed in our patients with unclassified sprue, included a peculiar pattern of crypt destruction, reminiscent of graft-versus-host disease, accompanied by a granulomatous reaction and nodular lymphoid hyperplasia, which can also be seen in small bowel biopsies from individuals with common variable immunodeficiency. 17 An increased prevalence (63%) of coexisting autoimmune conditions was noted in our patients, which is higher than the prevalence reported in celiac disease patients (5-30%).…”

“…17,18,36 Unusual histological features observed in our patients with unclassified sprue, included a peculiar pattern of crypt destruction, reminiscent of graft-versus-host disease, accompanied by a granulomatous reaction and nodular lymphoid hyperplasia, which can also be seen in small bowel biopsies from individuals with common variable immunodeficiency. 17 An increased prevalence (63%) of coexisting autoimmune conditions was noted in our patients, which is higher than the prevalence reported in celiac disease patients (5-30%). 37,38 This might explain the more pronounced skew in gender distribution, that is, female predominance observed in our series.…”

“…[3][4][5][6][7][8][9][10][11][12][13][14][15][16] The occurrence of collagenous sprue has been reported in individuals with celiac disease, tropical sprue, milk intolerance, myotonic dystrophy, malignancy-related paraneoplastic syndrome, and common variable immunodeficiency. 4,5,10,11,14,17,18 These studies have suggested that subepithelial collagen deposition might be a non-specific feature.…”

Common variable immunodeficiency: Crossroads between infections, inflammation and autoimmunity

“…Unlike classical IBD, lamina propria lymphocytes from CVID patients with large bowel enteropathy are skewed toward the production of Th1 proinflammatory cytokines, such as interleukin-12 (IL-12) and gamma interferon (IFN-) rather than TNF-alpha, IL17, or IL23, suggesting that the pathogenesis of the lesions differs at least partially (21). CVID-associated enteropathy may be suspected on the basis of the lack of plasma cells in a GI biopsy, but because this feature is only present in about two-thirds of patients, the diagnosis cannot always be confirmed in the absence of other clinical and laboratory findings (22). Gastrointestinal nodular lymphoid hyperplasia is a common finding in CVID patients (8% of an Italian cohort) (10), however the correlation of this condition with the development of mucosa-associated lymphoma is not proven.…”

Duodenal lymphocytosis with no or minimal enteropathy: much ado about nothing?

“…44 Increased IELs in the proximal small intestine often are detected in patients with hypogammaglobulinemia, whether because of IgA deficiency or common variable immunodeficiency. 45 Villous atrophy can be mild. Morphologic clues to the diagnosis can include reduced numbers of plasma cells, frequent parasitic infection (for example, Giardia), glandular apoptosis, and lymphoid follicle formation.…”