Cohort characteristics and mortality analysis: 473 patients with CVID followed at Mt. Sinai medical center

RATIONALE: Commonvariable immunodeficiency (CVID) is a rare primary immune deficiency. Data from large cohorts can be used to better characterize this disease. METHODS: Demographics, immunologic parameters, associated conditions, and mortality statistics were analyzed from 473 patients over approximately 30 years. RESULTS: Our cohort was 44% male and 56% female. The median age at diagnosis was 32 years; 33.5 years for females, 30 years for males (p=0.004). Median immunoglobulin levels at diagnosis were; IgG 246 mg/dL, IgA 8 mg/dL, and IgM 21 mg/dL. 26.5% of patients had an IgG under 110 mg/dl, 10% of subjects had 1% or fewer B cells, and 50.5% had 1% or fewer IgD-IgM-CD27+ B cells. Associated conditions included infections (>90%), autoimmunity (28.4%), lung disease (28.8%), bronchiectasis (11.3%), gastrointestinal disease (12.8%), malabsorption (6%), granulomatous disease (9.8%), splenectomy (8.3%), hepatitis (9%), cancer (6.8%), and lymphoma (8.1%). Females were more likely than males to develop lymphoma (p=0.03). 18% of patients died during follow up. The average age at death was 46.4 years (average US life expectancy 77.7 years). The probability of survival for both males and females with CVID was significantly lower than that of age-matched population controls (p<0.0001). Reduced survival was associated with lower levels of IgG (p=0.029) and B cells (p=0.001), and higher levels of IgM (p <0.0001). The risk of death was 95% lower among patients with only infectious complications (HR 0.05, p=0.009). CONCLUSIONS: Data on473 patients with CVID were analyzed. To our knowledge, this is the largest cohort of CVID patients described.