Restoring balance to B cells in ADA deficiency

J Clin Invest. 2012 Jun;122(6):1960-2. doi: 10.1172/JCI63782. Epub 2012 May 24.

Abstract

It is paradoxical that immunodeficiency disorders are associated with autoimmunity. Adenosine deaminase (ADA) deficiency, a cause of X-linked severe combined immunodeficiency (SCID), is a case in point. In this issue of the JCI, Sauer and colleagues investigate the B cell defects in ADA-deficient patients. They demonstrate that ADA patients receiving enzyme replacement therapy had B cell tolerance checkpoint defects. Remarkably, gene therapy with a retrovirus that expresses ADA resulted in the apparent correction of these defects, with normalization of peripheral B cell autoantibody frequencies. In vitro, agents that either block ADA or overexpress adenosine resulted in altered B cell receptor and TLR signaling. Collectively, these data implicate a B cell-intrinsic mechanism for alterations in B cell tolerance in the setting of partial ADA deficiency that is corrected by gene therapy.

Publication types

  • Comment

MeSH terms

  • Adenosine Deaminase / immunology*
  • B-Lymphocytes / immunology*
  • Female
  • Genetic Therapy / methods*
  • Humans
  • Immune Tolerance*
  • Male
  • Receptors, Antigen, B-Cell / immunology*
  • Receptors, Antigen, T-Cell / immunology*
  • Severe Combined Immunodeficiency / immunology*
  • Severe Combined Immunodeficiency / therapy*

Substances

  • Receptors, Antigen, B-Cell
  • Receptors, Antigen, T-Cell
  • ADA protein, human
  • Adenosine Deaminase