Phenotyping and follow up of forty-seven Iranian patients with common variable immunodeficiency

Abstract Background Common variable immune deficiency (CVID) is a heterogeneous syndrome with a wide variety of signs and symptoms. This study describes the phenotypingand survival of the CVID patients in the allergy and clinical immunology department of Rasol-E-Akram Hospital of Iran University of Medical Sciences in Tehran. Method We retrospectively reviewed hospital files of CVID patients in our department until January 2014. All patients were diagnosed with standard diagnostic criteria of CVID, treated and visited monthly, during the follow-up period. We divided the patients into four phenotypes; infection only, cytopenia, polyclonal lymphocytic infiltrationand unexplained enteropathy. The immunologic, demographic and clinical findings in different phenotypeswere analysed. Results The study included 47 CVID patients with mean ageat onsetof symptoms and diagnosis of 11.2 and 20.2 years, respectively. Phenotypingof our patients was: only infection (62%), cytopenia(26%) and PLI (19%) and 94% of cases had only one phenotype. We did not find a significant relation between the clinical phenotypesand immunologic or demographic data. Rate of parental consanguinityin our cases was 47%. Parental consanguinitywas related to lower ageat onset, lower age at diagnosis and higher baseline IgG levels. Patients with malignancy and autoimmunity had significantly higher ageat onset. Our patients were followed-up for 6.9 years and the mortality rate during this time was 6%. Conclusions Parental consanguinityand ageat onsetof CVID symptoms may have important roles in CVID manifestations.