Common variable immune deficiency: case studies

Abstract

Common variable immune deficiency (CVID) is one of the most common congenital immune defects encountered in clinical practice. The condition occurs equally in males and females, and most commonly in the 20- to 40-year-old age group. The diagnosis is made by documenting reduced serum concentrations of immunoglobulin G (IgG), IgA, and usually IgM, together with loss of protective antibodies. The genetics of this syndrome are complex and are still being unraveled, but the hallmarks for most patients, as with other immune defects, include acute and chronic infections of the sinopulmonary tract. However, other noninfectious autoimmune or inflammatory conditions may also occur in CVID, and indeed these may be the first and only sign that a significant immune defect is present. These manifestations include episodes of immune thrombocytopenia, autoimmune hemolytic anemia, or neutropenia, in addition to splenomegaly, generalized or worrisome lymphadenopathy, and malignancy, especially lymphoma. These issues commonly bring the patient to the attention of hematologists for both evaluation and treatment. This article discusses 3 cases in which patients with CVID had some of these presenting issues and what hematology input was required.

Figure 1.

(A) The patient in clinical case 1 with several episodes of severe autoimmune hemolytic anemia was only diagnosed with CVID after he had bacterial pneumonia and developed an empyema. (B) Lateral view shows the posterior empyema collection.

Figure 2.

The patient in clinical case 2 had a slow decline in lung function due to his immune defect, but this was assumed to be due to sarcoidosis. Chest computed tomography showed ground-glass opacities with numerous nodules, hilar lymphadenopathy, and bronchiectatic changes. With granuloma on biopsy, these changes were consistent with granulomatous lymphocytic interstitial lung disease.

Figure 3.

The patient in clinical case 3 was concerned because after he received chemotherapy for a presumed lymphoma, his spleen remained large. However, this is typical in patients with CVID.