Making a Diagnosis of Common Variable Immunodeficiency: A Review

Common variable immunodeficiency (CVID) is a condition that inhibits the function of the immune system, making those with the condition more susceptible to infection from external pathogens, including bacteria and, less often, viruses. The immune disorder is marked by low immunoglobulin levels of immunoglobulin G (IgG) and IgA as well as IgM in some patients. These immune abnormalities typically result in recurrent sinopulmonary infections and can result in serious complications such as pneumonia and chronic lung disease. Other manifestations include poor vaccine response and defective antibodies in a patient's immune system. The disorder affects approximately one in 25,000 to one in 50,000 individuals worldwide, with the condition varying across different populations. While the underlying mechanism of disease activity remains poorly understood, only 10% of cases are known to have an underlying genetic link and approximately 25% of patients also have an autoimmune disorder. CVID commonly presents in individuals in their twenties or thirties but can present at any time between childhood through adulthood, with mortality dependent on the severity of illness and frequency of recurrent infections. Potential life-threatening consequences of CVID include malignancies, enteropathy, and autoimmune manifestations. Treatment can help alleviate symptoms and prevent continued recurrent infections and serious complications. However, the lack of awareness among primary care physicians (PCPs) makes the condition difficult to diagnose and manage. In this review article, we will provide insight into the clinical manifestations as well as the diagnosis and management of CVID. This will provide clinical practitioners with tools to recognize the disease earlier on to improve patient outcomes and prevent serious complications. We will also afford a better understanding of genetic components tied to CVID and new research efforts.