Common Variable Immunodeficiency: Epidemiology, Pathogenesis, Clinical Manifestations, Diagnosis, Classification, and Management

Abstract

Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by hypogammaglobulinemia and increased susceptibility to recurrent bacterial infections. It is the most frequent symptomatic antibody deficiency, with a wide variety of infectious and noninfectious complications. Numerous studies have demonstrated that immunological and genetic defects are involved in the pathogenesis of CVID. However, in most cases, the genetic background of the disease remains unidentified. This review aims to discuss various aspects of CVID, including epidemiology, pathogenesis, symptoms, diagnosis, classification, and management.

Primary Humoral Immune Deficiencies: Overlooked Mimickers of Chronic Immune-Mediated Gastrointestinal Diseases in Adults

“…CVID is an umbrella name for the most common symptomatic PID of heterogeneous etiology [ 84 , 85 ], with an estimated incidence of 1:10,000 to 1:50,000 in the Middle East and Caucasian population [ 86 , 87 , 88 ]. It is less frequently described in the African and Asian population, possibly due to differences in the availability of appropriate diagnostics, registry data, and awareness of PID [ 89 ].…”

Influenza‐specific IgG1+ memory B‐cell numbers increase upon booster vaccination in healthy adults but not in patients with predominantly antibody deficiency

“…5,6,20,21 Typically, treatment of PAD involves Ig replacement therapy (IgRT) and prophylactic antibiotics to reduce the number and severity of infections. 7,21,22 This is important to reduce the risk of irreversible organ damage, such as bronchiectasis because of recurrent respiratory infections that is a major contributor to the high morbidity and reduced life expectancy of patients. 7,22,23 PAD patients can also develop non-infectious complications such as autoimmunity and malignancy.…”

“…7,21,22 This is important to reduce the risk of irreversible organ damage, such as bronchiectasis because of recurrent respiratory infections that is a major contributor to the high morbidity and reduced life expectancy of patients. 7,22,23 PAD patients can also develop non-infectious complications such as autoimmunity and malignancy. 6,7,21,22,24 These complications are difficult to treat and, if prominent, can mask a PAD diagnosis resulting in a significant delay in diagnosis and initiation of optimal treatment.…”

“…7,22,23 PAD patients can also develop non-infectious complications such as autoimmunity and malignancy. 6,7,21,22,24 These complications are difficult to treat and, if prominent, can mask a PAD diagnosis resulting in a significant delay in diagnosis and initiation of optimal treatment. 7,23 With the diagnostic rate of genomics in PAD being only~20%, 5,7,[25][26][27] immunophenotyping of the blood B-cell compartment is frequently performed to support the clinical diagnosis.…”

Commentary: Gut Antibody Deficiency in a Mouse Model of CVID Results in Spontaneous Development of a Gluten-Sensitive Enteropathy

“…In our opinion, the immunological and clinical phenotype of CVID are not adequately covered in a CD19 −/− mice model. CVID patients have, with a few exceptions, normal number of B cells and a more complex immunological phenotype that also affects T cells, monocytes/macrophages, and dendritic cells (12). The authors' rationale for using CD19 −/− mice as disease model for CVID is also argued by the fact that some CVID patients have mutation in CD19 and thereby CD19 deficiency.…”