Study Reveals Clinical Manifestations that Lead to Delayed Diagnosis in CVID Patients

Researchers in a university hospital sought to determine the spectrum of clinical manifestations, immunological characteristics and the time to diagnose patients with common variable immunodeficiency (CVID) disorders. CVIDs represent a heterogenous disease spectrum that includes recurrent infections and complications such as autoimmunity, inflammatory organ disease and an increased risk of cancer.

A representative cohort study was performed in 61 adult CVID patients and 18 patients with a partial antibody deficiency (selective antibody deficiency with normal immunoglobulins [SADNI] and IgG subclass deficiency) who met the ESID/PAGID diagnostic criteria for CVIDs, IgG subclass deficiency and SADNI. The researchers found that infections were the main presentation of all antibody-deficient patients, and the number of patients with infections declined during IgG therapy. However, the development of bronchiectasis continued despite IgG therapy, as well as the development of autoinflammatory conditions. Noninfectious disease complications were present in 30 percent of CVID patients at the time of diagnosis, and this increased to 51 percent during follow-up despite IgG therapy. The most common noninfectious disease complications were autoimmunity and lymphoproliferative disease.

The median time to diagnose CVID was 10 years. However, in patients with noninfectious complications, the time to diagnose was considerably longer when compared with the group of patients without complications (17.6 years vs. 10.2 years, p=0.026).