Correlation between common variable immunodeficiency clinical phenotypes and parental consanguinity in children and adults

Background: common variable immunodefi ciency (cvid) is a heterogeneous group of disorders with a wide range of clinical manifestations and immunological fi ndings,which could possibly form the basis for classifi cation into different phenotypes. objectives: this study was performed to distinguish between different clinical phenotypes in iranian patients with cvid and compare complications and prognosis between these subgroups. methods: ninety-three cvid patients were classifi ed according to 5 clinical phenotypes: infections only (n=42),polyclonal lymphocytic infiltration (n=35),autoimmunity (n=10),malignancy (n=10),and enteropathy (n=9). the patients were further categorized into 4 groups based on age of diagnosis (cutoff,13 years) and parental consanguinity. results: grouping of patients showed that cvid children with parental consanguinity was the most frequent group (51%),followed by cvid children without parental consanguinity (21%),cvid adults without parental consanguinity (21%),and cvid adults with parental consanguinity (7%). there were signifi cant associations between the group of cvid children with parental consanguinity and the polyclonal lymphocytic infi ltration (p=.011) and enteropathy (p=.048) phenotypes. this group also had a higher mortality rate than other groups (p=.014). high serum levels of immunoglobulin m (igm) at the time of diagnosis were associated with the eventual development of autoimmunity (p=.023). the adjusted odds ratio (or) for mortality in all phenotypes showed that mortality was signifi cantly increased in patients with the polyclonal lymphocytic infi ltration phenotype (mantel-haenszel or=5.3,ci=3.42-6.2). conclusions: parameters such as parental consanguinity and early onset of disease could describe a subgroup of cvid patients characterized by more complications,poorer prognosis,and a need for greater medical care and attention. © 2010 esmon publicidad.