Identification of CVID Patients With Defects in Immune Repertoire Formation or Specification.

ABSTRACT: Common variable immune deficiency disorder (CVID) is the most clinically relevant cause of antibody failure. It is a highly heterogeneous disease with different underlying etiologies. CVID has been associated with a quantitative B cell defect, however, little is known about the quality of B cells present. Here, we studied the naïve and antigen selected B-cell receptor (BCR) repertoire in 33 CVID patients using next generation sequencing, to investigate B cells quality. Analysis for each individual patient revealed whether they have a defect in immune repertoire formation [V(D)J recombination] or specification (somatic hypermutation, subclass distribution, or selection). The naïve BCR repertoire was normal in most of the patients, although alterations in repertoire diversity and the junctio

SUBMITTER: van Schouwenburg PA 

PROVIDER: S-EPMC6265514 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature