Abstract
Common variable immunodeficiency (CVID) is the most common symptomatic form of primary immunodeficiency. More than 50% of patients in some series suffer from autoimmune or inflammatory complications (the “CVID+” phenotype), and these are not adequately addressed by current treatments. Despite major advancements in genetics, the pathogenesis of the CVID+ phenotype has remained unexplained for most patients, necessitating the need for relevant biomarkers in both the clinic and research settings. In the clinics, reduced isotype-switched memory B cells (≤ 0.55% of B cells) and reduced T cells (CD4) can be utilized to identify those with increased complication risks. Additionally, condition-specific markers have also been suggested for lymphoma (normal or elevated IgM) and progressive interstitial lung disease (increased BAFF, normal or elevated IgM). Additional biomarkers have provided insights into disease pathogenesis, demonstrating wider systemic inflammation (increased LBP, sCD14, and sCD25; expanded ILC3), mucosal defects (increased zonulin, I-FABP), and perhaps reduced anti-inflammatory capability (reduced HDL) in CVID. Most recently, efforts have revealed elevated circulating bioactive bacterial DNA levels – marking microbial translocation and potentially linking the causation of multiple inflammatory changes previously observed in CVID. The implementation of high throughput profiling techniques may accelerate the search of relevant biomarker profiles in CVID and lead to better clinical risk stratification, revealing disease insights, and identifying potential therapeutic targets.
Highlights
Common variable immunodeficiency (CVID) is one of the most common symptomatic primary immunodeficiency disorders, with an estimated prevalence of 1:50,000 to 1:25,000 [1–3]
We found that serum soluble B cell maturation antigen (BCMA) was significantly reduced in CVID when compared to those with milder forms of antibody defects, including IgG deficiency and selective IgA deficiency
While CVID is traditionally classified among B-cell immune deficiencies, immunologic and genetic studies over the years have shown that it is, in many ways, a combined immune defect with additional innate and adaptive abnormalities
Summary
Common variable immunodeficiency (CVID) is one of the most common symptomatic primary immunodeficiency disorders, with an estimated prevalence of 1:50,000 to 1:25,000 [1–3]. Female CVID patients had significantly more switched memory B cells and higher serum IgM levels than males.
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