Is there a need to redefine the diagnostic criteria for common variable immunodeficiency?

Abstract

Common variable immunodeficiency (CVID) is a heterogeneous group of disorders, characterized by decreased serum levels of immunoglobulins and abnormal antibody response to protein and/or polysaccharide antigens, leading to recurrent respiratory and gastrointestinal infections, autoimmunity and malignancies. Meanwhile, several monogenic defects with CVID-like phenotype have been identified during the last decade. There is a need to reach international consensus by modifying criteria for CVID, considering various areas of uncertainty in the field.

Keywords::

• common variable immunodeficiency
• diagnostic criteria
• monogenic defects
• primary immunodeficiency diseases

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.

Notes

^†Patients with normal or low B cells in blood, decreased IgG (and possibly missing IgE), but normal IgA and IgM levels in serum, clearly deficient responses to vaccines and without monogenic defect or discernible secondary causes should be defined as suffering from 'primary IgG hypogammaglobulinemia'. During follow-up, some of these patients may further develop common variable immunodeficiency.

^‡Patients with very low B cells (<1%) should be investigated for the genes associated with agammaglobulinemia and low number of B cells.