Document Detail

Restoring balance to B cells in ADA deficiency.
MedLine Citation:
PMID:  22622034     Owner:  NLM     Status:  MEDLINE    
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.
Eline T Luning Prak
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Publication Detail:
Type:  Comment; Journal Article     Date:  2012-05-24
Journal Detail:
Title:  The Journal of clinical investigation     Volume:  122     ISSN:  1558-8238     ISO Abbreviation:  J. Clin. Invest.     Publication Date:  2012 Jun 
Date Detail:
Created Date:  2012-06-01     Completed Date:  2012-08-20     Revised Date:  2013-06-24    
Medline Journal Info:
Nlm Unique ID:  7802877     Medline TA:  J Clin Invest     Country:  United States    
Other Details:
Languages:  eng     Pagination:  1960-2     Citation Subset:  AIM; IM    
Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania 19404, USA.
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MeSH Terms
Adenosine Deaminase / immunology*
B-Lymphocytes / immunology*
Genetic Therapy / methods*
Immune Tolerance*
Receptors, Antigen, B-Cell / immunology*
Receptors, Antigen, T-Cell / immunology*
Severe Combined Immunodeficiency / immunology*,  therapy*
Reg. No./Substance:
0/Receptors, Antigen, B-Cell; 0/Receptors, Antigen, T-Cell; EC protein, human; EC Deaminase
Comment On:
J Clin Invest. 2012 Jun 1;122(6):2141-52   [PMID:  22622038 ]

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