Common variable immunodeficiency: an uncommon disease with high mortality

The objective of this report is to present a case of common variable immunodeficiency (CVID), to review the literature on the subject, and to perform a mortality analysis on a case from the review.

Subjects in the original study, having suffered multiple respiratory infections in the recent past, were referred to and followed at the Mt. Sinai Medical Center, New York, N Y, for diagnosis and management of immunodeficiency during the years 1973-1998. Demonstrating that two of the major immunoglobulin subgroups were more than two standard deviations below the mean for the patient's age made the diagnosis of CVID. In addition, poor antibody response to polysaccharide and protein antigens was demonstrated as a diagnostic criterion. Certain groups of patients were excluded from the cohort. They were those with hereditary X-linked Agammaglobulinemia and any cases proven to be secondary to another pathologic process. Patients with hypogammaglobulinemia and thymoma were also excluded.

Standard mortality methodology was used to obtain observed mortality, expected mortality, mortality ratios, excess death rates, and confidence intervals for the mortality ratios.

Ages at entry ranged from 3 to 79 with mean age at diagnosis of 29 for males and 33 for females. Follow-up was from 1 year to 25 years with a mean follow-up of 7 years. Survival in the studied cohort was 64% for males and 67% for females. These data were taken from the Kaplan-Meier curve spanning 20 tears of follow-up and were used throughout the remainder of the calculations. The corresponding mortality ratios were 526% and 639%, respectively.

Markedly increased mortality ratios and excess death rates were found. These values (MR) were significant at the 95% confidence level, thus underscoring the point that in spite of young age and high functionality, patients with this syndrome have markedly elevated mortality.