Background: The COMMON VARIABLE IMMUNE DEFICIENCY (CVID) is known as the most prevalent symptomatic primary IMMUNE DEFICIENCY (PID) diseases, which is characterized by hypogammaglobulinemia with VARIABLE infectious and noninfectious manifestations. In this study, the researchers aimed to evaluate the frequency of cardiac disorders and investigate its association with other manifestations in CVID patients. Method: A total of 337 CVID patients registered in the Iranian Primary ImmunoDEFICIENCY Registry were evaluated in this study. The questionnaire was completed for all patients to collect the participants’,demographic data, clinical manifestations and laboratory finding. The analysis was performed between the two groups of the study including CVID patients with cardiac manifestation and those without it. Results: The prevalence rate of cardiac manifestation was calculated to be 9. 1%. pericardial and myocardial diseases and pulmonary hypertension were the most prevalent complications. CVID patients with a history of cardiac problem had significantly higher prevalence rates of otitis media, lymphoproliferative disorders, splenomegaly, hepatomegaly, failure to thrive and lower numbers of CD8+ T cells and CD19+ B cells compared to the patients without cardiac disorders. Notably, no significant differences were observed in immunoglobulins serum levels, CD3+ and CD4+ T cells between the patients with and without cardiac manifestation. Conclusion: Regular echocardiographic evaluation and of CVID patients for cardiac complications especially for inflammatory cardiac disease, heart failure and pulmonary hypertension, is critical to reduce the risk of heart disease.

COMMON VARIABLE IMMUNE DEFICIENCY (CVID) is a heterogeneous syndrome with infective, autoIMMUNE and malignant manifestations. This study describes retrospectively the phenotyping and follow-up of the CVID patients in the allergy and clinical immunology department of Rasol E Akram Hospital of Iran University of Medical Sciences in Tehran until January 2014. The study included forty seven CVID patients with mean age at onset of symptoms and diagnosis of 11.2 and 20.2 years respectively. Phenotyping of 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 phenotypes and immunologic or demographic data. Rate of parental consanguinity in our cases was 47%. Parental consanguinity was related to lower age at onset, lower age at diagnosis and higher baseline IgG levels. Patients with malignancy and autoimmunity had significantly higher age at onset. Our patients were followed for 6.9 years and the mortality rate during this time was 6%.

Background: COMMON VARIABLE IMMUNE DEFICIENCY (CVID) is the COMMONest symptomatic primary immunoDEFICIENCY and represents a heterogenous collection of disorders resulting mostly in antibody DEFICIENCY and recurrent infections. The syndrome includes impaired B-cell maturation, impaired somatic hyper mutation, reduced numbers of circulating memory and isotype-switched memory B cells, and absent or reduced plasma cells. B cell maturation antigen (BCMA) is a tumor necrosis family receptor superfamily member 17 (TNFRSF17), expressed only on B cell lines, and is essential for survival of long-lived plasma cells. The aim of this study was to evaluate mutations in BCMA in patients with CVID in compare with normal individuals in Isfahan, Iran.Methods: Blood samples were collected from 10 CVID patients with substitutive immunoglobulin therapy before immunoglobulins (Ig) infusion and 10 normal controls in ethylenediaminetetraacetic acid (EDTA) tubes then DNA samples were extracted and after the polymerase chain reaction (PCR) was done, samples were sequenced.Findings: After reviewing the results of the sequence and alignment of the sequences, no mutations in the gene were seen.Conclusion: In addition to the study of mutation in BCMA gene, BCMA gene and protein expression level should be considered to understand more aspects of this disease.

Background: The Transmembrane Activator and Calcium modulator ligand Interactor (TACI), encoded byTNFRSF13B/TACI gene, is mutated in some patients with COMMON VARIABLE ImmunoDEFICIENCY (CVID) and IgA DEFICIENCY (IgAD). The purpose of the study was to investigate for the first time in Turkish patients the prevalence of TNFRSF13Balterations in CVID, selective and partial IgAD patients.Methods: Forty two CVID, 36 selective IgAD, 34 partial IgAD and 25 healthy controls were included. All patients were examined forTNFRSF13B gene mutations by PCR.Results: The percentages of TNFRSF13B mutations in CVID, selective and partial IgAD patients were 7.1, 2.7 and 2.9%, respectively. No disease causingTNFRSF13B mutation in healthy controls was found. Patients with TACI mutations had recurrent respiratory tract infections. None of them experienced autoimmunity, bronchiectasis or granulomatous disease. In conclusion, TNFRSF13B mutations were present not only in CVID patients, but also in IgAD cases.Conclusion: Modifier genes as well as their combination with other genetic or environmental factors may play an important role in the development of the immunoDEFICIENCY phenotype.