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Published on: June 23, 2019
Changes in B cell immunophenotype in common variable immunodeficiency: cause or effect - is bronchiectasis indicative
P Bright1, S Grigoriadou, P Kamperidis
1Immunology Department, Barts Health NHS Trust, London, UK.
Insights
Common variable immunodeficiency (CVID) involves B cell defects leading to infections. This study confirms B cell immunophenotype alterations are strongly linked to CVID, distinguishing it from other conditions.
Area of Science:
- Immunology
- Clinical Medicine
Background:
- Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by defective immunoglobulin production and increased infection susceptibility.
- The underlying pathology of CVID remains poorly understood, with incomplete penetrance even in familial cases.
- The EUROclass system for CVID classification uses B cell immunophenotyping, but its validity is questioned regarding whether alterations are primary or secondary to complications/treatment.
Purpose of the Study:
- To investigate whether B cell immunophenotype alterations are a direct consequence of CVID or potentially related to its complications and treatments.
- To compare the B cell immunophenotype of CVID patients with disease control groups.
Main Methods:
- Comparative study analyzing EUROclass B cell immunophenotyping.
- Patient groups included CVID patients (n=30), bronchiectasis controls (n=11), granulomatous disease (Crohn's disease) controls (n=9), and neurological patients on immunoglobulin treatment (n=6).
Main Results:
- B cell immunophenotype alterations were strongly associated with CVID, aligning with previous research.
- Significant differences in B cell immunophenotype were observed between CVID patients and controls with granulomatous disease and those on immunoglobulin treatment.
- Three bronchiectasis patients without known immunodeficiency exhibited altered B cell immunophenotypes, suggesting potential undiagnosed immunodeficiency or secondary effects of bronchiectasis.
Conclusions:
- Altered B cell immunophenotype is a strong indicator of CVID.
- Granulomatous disease and immunoglobulin treatment do not appear to cause the observed B cell immunophenotype alterations in the control groups.
- The findings support the utility of B cell immunophenotyping in CVID diagnosis and highlight potential immunodeficiency in some bronchiectasis patients.
Abstract:
Common variable immunodeficiency (CVID) is the most common severe primary immunodeficiency, but the pathology of this condition is poorly understood. CVID involves a defect in the production of immunoglobulin from B cells, with a subsequent predisposition to infections. Approximately 10-20% of cases are inherited, but even in families with a genetic defect the penetrance is far from complete. A classification system for CVID has been suggested (EUROclass) based on B cell immunophenotyping, but it has not been shown that altered B cell immunophenotype is not a consequence of the complications and treatment of CVID. This study compares the EUROclass B cell immunophenotype of CVID patients (n = 30) with suitable disease controls with bronchiectasis (n = 11), granulomatous disease (Crohn's disease) (n = 9) and neurological patients on immunoglobulin treatment (n = 6). The results of this study correlate with previous literature, that alterations in B cell immunophenotype are associated strongly with CVID. Interestingly, three of the 11 bronchiectasis patients without known immunodeficiency had an altered B cell immunophenotype, suggesting the possibility of undiagnosed immunodeficiency, or that bronchiectasis may cause a secondary alteration in B cell immunophenotype. This study showed a significant difference in B cell immunophenotype between CVID patients compared to disease control groups of granulomatous disease and immunoglobulin treatment. This suggests that granulomatous disease (in Crohn's disease) and immunoglobulin treatment (for chronic neurological conditions) are not causal of an altered B cell immunophenotype in these control populations.
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