Dedicator of cytokinesis 8-deficient patients have a breakdown in peripheral B-cell tolerance and defective regulatory T cells.

ABSTRACT:

Background

Dedicator of cytokinesis 8 (DOCK8) deficiency is typified by recurrent infections, increased serum IgE levels, eosinophilia, and a high incidence of allergic and autoimmune manifestations.

Objective

We sought to determine the role of DOCK8 in the establishment and maintenance of human B-cell tolerance.

Methods

Autoantibodies were measured in the plasma of DOCK8-deficient patients. The antibody-coding genes from new emigrant/transitional and mature naive B cells were cloned and assessed for their ability to bind self-antigens. Regulatory T (Treg) cells in the blood were analyzed by means of flow cytometry, and their function was tested by examining their capacity to inhibit the proliferation of CD4(+)CD25(-) effector T cells.

Results

DOCK8-deficient p

SUBMITTER: Janssen E 

PROVIDER: S-EPMC4261031 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature