Introduction: CVID represents the most common symptomatic PID with a high variability in clinical presentation.
Objectives: To record the clinical phenotypes of CVID patients diagnosed at our Referral Center during the last 20 years
Methods: Forty-one patients with CVID (male:23), diagnosed according to the recent ESID criteria, were evaluated. The age at diagnosis was 6-33 years (median: 17years) and the duration of follow-up 1-19 years. (median: 7.5 years)
Results: The major phenotypes of CVID patients at diagnosis were: a) increased susceptibility to respiratory infections (80.5%), [infections only (26.8%), with bronchiectasis/interstitial lung disease (19.5%), in association with autoimmunity with or without lymphoproliferation (24.3% and 9.7%, respectively)], b) autoimmune cytopenias or lymphoid malignancies only (14.6%) c) enteropathy only (4.8%). More than one autoimmune disorders presented 26.8% of the patients, with thrombocytopenia and thyroid disease representing the most common diseases. Four CVID cases was diagnosed after rituximab use for the treatment of idiopathic thrombocytopenic purpura (2 patient) and Non-Hodgkin lymphomas (2). The lag time to diagnosis was 6.5 years (1-14 years). Genetic analysis was performed in 16/41 patients and TACI mutations were detected in 2 of them (12.5%)
Conclusions: The infections were the only manifestation in just 1/3 of the patients with CVID. Autoimmune cytopenias in association with lymphoproliferation was the most common presenting or/and major manifestation of the disease. Rituximab might be a triggering factor for CVID emergence and patients with hematologic autommunity or malignancies should be closely monitored for immunoglobulin levels, both before and after rituximab treatment.