Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome

J Exp Med. 2010 Jul 5;207(7):1525-40. doi: 10.1084/jem.20091928. Epub 2010 Jun 14.

Abstract

Hypomorphic RAG mutations, leading to limited V(D)J rearrangements, cause Omenn syndrome (OS), a peculiar severe combined immunodeficiency associated with autoimmune-like manifestations. Whether B cells play a role in OS pathogenesis is so far unexplored. Here we report the detection of plasma cells in lymphoid organs of OS patients, in which circulating B cells are undetectable. Hypomorphic Rag2(R229Q) knock-in mice, which recapitulate OS, revealed, beyond severe B cell developmental arrest, a normal or even enlarged compartment of immunoglobulin-secreting cells (ISC). The size of this ISC compartment correlated with increased expression of Blimp1 and Xbp1, and these ISC were sustained by elevated levels of T cell derived homeostatic and effector cytokines. The detection of high affinity pathogenic autoantibodies toward target organs indicated defaults in B cell selection and tolerance induction. We hypothesize that impaired B cell receptor (BCR) editing and a serum B cell activating factor (BAFF) abundance might contribute toward the development of a pathogenic B cell repertoire in hypomorphic Rag2(R229Q) knock-in mice. BAFF-R blockade reduced serum levels of nucleic acid-specific autoantibodies and significantly ameliorated inflammatory tissue damage. These findings highlight a role for B cells in OS pathogenesis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Substitution / genetics
  • Animals
  • Antibody Formation / immunology
  • Antibody-Producing Cells / immunology*
  • Antibody-Producing Cells / pathology*
  • Antigens / immunology
  • B-Cell Activating Factor / metabolism
  • B-Cell Activation Factor Receptor / metabolism
  • Bone Marrow Cells / immunology
  • Bone Marrow Cells / pathology
  • Cell Compartmentation
  • Cell Proliferation
  • DNA-Binding Proteins / metabolism*
  • Disease Models, Animal
  • Epitopes / immunology
  • Homeostasis / immunology*
  • Humans
  • Immunologic Memory / immunology
  • Lymphatic System / immunology
  • Lymphatic System / pathology
  • Lymphocyte Activation / immunology
  • Mice
  • Plasma Cells / immunology
  • Plasma Cells / pathology
  • Severe Combined Immunodeficiency / immunology*
  • Severe Combined Immunodeficiency / pathology*
  • Signal Transduction / immunology
  • Spleen / immunology
  • Spleen / pathology
  • T-Lymphocytes / cytology
  • T-Lymphocytes / immunology
  • Toll-Like Receptors / agonists

Substances

  • Antigens
  • B-Cell Activating Factor
  • B-Cell Activation Factor Receptor
  • DNA-Binding Proteins
  • Epitopes
  • Rag2 protein, mouse
  • Tnfsf13b protein, mouse
  • Toll-Like Receptors