Loss of B Cells in Patients with Heterozygous Mutations in IKAROS.

ABSTRACT:

Background

Common variable immunodeficiency (CVID) is characterized by late-onset hypogammaglobulinemia in the absence of predisposing factors. The genetic cause is unknown in the majority of cases, and less than 10% of patients have a family history of the disease. Most patients have normal numbers of B cells but lack plasma cells.

Methods

We used whole-exome sequencing and array-based comparative genomic hybridization to evaluate a subset of patients with CVID and low B-cell numbers. Mutant proteins were analyzed for DNA binding with the use of an electrophoretic mobility-shift assay (EMSA) and confocal microscopy. Flow cytometry was used to analyze peripheral-blood lymphocytes and bone marrow aspirates.

Results

Six different heterozygous mutations in IKZF1, the gen

SUBMITTER: Kuehn HS 

PROVIDER: S-EPMC4836293 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature