Common variable immunodeficiency in adults: current diagnostic protocol and laboratory measures

Abstract

Common variable immunodeficiency (CVID) is one of the most common symptomatic primary immune defects in adults. Unfortunately, the diagnosis of CVID is often delayed because of its variable presentations and manifestations. Sincere efforts from experts in the field of primary immunodeficiency disorders all over the world have made us wiser regarding the clinical features, associated complications and long-term outcome of the disease. However, a systematic compilation of diagnostic protocols and laboratory measures is desirable. The present review highlights in brief the immunological and molecular defects characterizing adult CVID along with a comprehensive discussion on currently followed laboratory criteria and methods used to identify these cases. The article may benefit the clinicians, immunologists, infectious disease specialists, pulmonary medicine specialists, gastroenterologists, dermatologists and other physicians who are involved in the team management of the patients with CVID.

Keywords::

• CVID
• class-switched memory B cells
• flow cytometry
• hypogammaglobulinemia
• immunoglobulins
• memory B cells

Financial & competing interests disclosure

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

No writing assistance was utilized in the production of this manuscript.

Key issues

• • Common variable immunodeficiency (CVID) is the one of the most common symptomatic primary immunodeficiency disorder in adults but is underreported.

• • A diagnosis of CVID should be considered in all patients with recurrent infections, particularly in those with similar illness in other family members.

• • Radiological investigations may provide information on severity of the disease and preliminary quantitative IGs assay should be done in all suspected cases.

• • Although there is a long list of laboratory measures available, they should be utilized judiciously after a detailed clinical evaluation of the patient.

• • Flow cytometry has been found to be most informative and serves as the standard diagnostic tool for CVID patients.

• • So far, no single genetic factor has been found to be exclusively associated with CVID, and genetic analysis is required mostly to exclude other conditions.

• • Reporting of more number of cases, awareness among clinicians and education of patients about management of disease is needed for disease control.

Notes

Data taken from [62].

Data taken from [15,55,62].

Data taken from [29,56,128–131].