Imunodeficiência comum variável em adultos e crianças: Correlação entre fenótipos clínicos e imunológicos

Background: Common variable immunodeficiency (CVID) is a heterogeneous disorder characterised by recurrent infections and antibody deficiency. Various classification schemes for distinct clinical phenotypes have been developed and correlated with different B cell and T cell phenotypes. Aim: To understand the clinical characteristics and their correlation with the B and T cell phenotypes in adult and children CVID patients. Material and methods: We selected the CVID patients followed -up in HUC and HPC Primary Immunodeficiency Outpatient Clinics from 1st January 2000 to 31st December 2010 and performed a retrospective study of their clinical files. Different T and B lymphocyte immunophenotyping was then performed using the flow cytometer and the results were compared with 12 healthy controls. Results: Fourteen CVID patients (12 adults/2children) were evaluated. The adults had a mean age of 48.5 years and mean age at diagnosis of 36 years, F/M ratio 2:1. Recurrent lower respiratory tract infections and gastrointestinal infections were found in 75% and 33% of cases, respectively. The associated complications were bronchiectasis and autoimmune diseases (50%), lymphoproliferative disease (25%), splenomegaly and chronic enteropathy (17%). The children, both female, aged 8 and 12, had recurrent respiratory tract infections and bronchiectasis. In the adult patients, T and B lymphocyte subpopulations showed decrease of Treg cells in 2 patients, CD19 less than 1% in 2 patients and decreased switched memory B cells in 10 patients. Two of the 4 patients with reduction of naive CD4 cells had autoimmune diseases and the others lymphoproliferative diseases. In the children, the T and B lymphocyte subpopulations were normal. Conclusions: The B and T cell subset analysis revealed that the major abnormality was the more significant decrease of switched memory B cells in the patients with additional lymphoproliferative and autoimmune diseases and splenomegaly. In contrast, CVID patients without associated complications have no changes in T and B subpopulations, which may mean a more favourable prognosis.