Flow cytometry as an important tool in the diagnosis of immunodeficiencies demonstrated in a patient with ataxia-telangiectasia

Abstract

AbstractBackground:Ataxia-telangiectasia (AT) is a rare hereditary genetic disease caused by one of more than 500 mutations in the ataxia-telangiectasia mutated gene (Methods:We evaluated a patient (female, 15 years) with AT by estimation of antibody titers, characterization of peripheral B- and T-cell subsets and investigation of proliferation response of B- and T-cells undergoing specific stimulation with PHA, CD3/CD28, and R848/CD40L. A healthy volunteer was used as a control.Results:The patient showed a heterozygous mutation in theConclusions:Initial lymphocyte immunophenotyping suggested a defect in T- and B-cell differentiation, but normal humoral antibody titers and B-cell proliferation were inconsistent with this suspicion. Therefore, the results revealed an underlying T-cell defect and low levels of class-switched B-cells results from the lacking assistance from T-cells.