Making a Diagnosis of Common Variable Immunodeficiency: A Review

Abstract

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.

Cavitary lung lesions caused by Pneumocystis jirovecii in setting of common variable immune deficiency

“…Another interesting aspect in this case is the development of PJP in a patient with CVID. CVID is a heterogeneous group of immune deficiencies characterized by low immunoglobulin levels thought to be secondary to failure in B cell differentiation and in activation of antibody secretion [ 8 ]. Common respiratory complications in CVID patients include pneumonia, sinusitis and bronchiectasis [ 9 ].…”

“…T cell lymphopenia is one of the most important risk factors for Pneumocysti s infection because CD4 + T cells play an essential role in the clearance of the organisms after inhalation from the environment [ 3 ]. CVID is not classically associated with T cell immunodeficiency, but there have been studies showing T cell proliferation and subsequent cytokine release can be affected in CVID patients [ 8 ], which might put our patient at increased risk for PJP.…”

The Importance of the Transcription Factor Foxp3 in the Development of Primary Immunodeficiencies

“…As a result, people suffering from CVID will differ in their ability to elicit effective antibody responses due to the lowered levels of immunoglobulin. We can distinguish three types of disorders here; the first one concerns the three main types of immunoglobulins (IgG, IgA, and IgM), the second one concerns disorders within IgG and IgA, and the third group concerns those in which only IgG is lowered [213,214]. A diagnosis of CVID is usually confirmed by abnormal blood tests and medical history.…”

Differently expressed microRNA in response to the first Ig replacement therapy in common variable immunodeficiency patients

“…Common variable immunodeficiency (CVID) is one of the most prevalent Primary Antibody Disorders characterized by marked hypogammaglobulinemia 1 . The real incidence of CVID is not simple to ascertain, but the estimated prevalence of CVID in Caucasians ranges between 1:10.000 and 1:50.000 and the prevalence rate may continue to increase 1 .…”

“…Delays in diagnosis and treatment worsen the prognosis of CVID patients lead to permanent organ structural damage [1][2][3] . Although few studies reported miRNAs regulation in response to Ig replacement therapy in immunodeficiencies, to our knowledge, there are no studies about miRNAs dosage and changes in CVID patients [10][11][12] .…”