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

E Janssen, H Morbach, S Ullas, JM Bannock… - Journal of allergy and …, 2014 - Elsevier
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 …