Immunologic Research

, 44:127 | Cite as

Revertant somatic mosaicism in the Wiskott–Aldrich syndrome



Up to 11% of patients affected with Wiskott–Aldrich syndrome (WAS) have presented with somatic mosaicism due to spontaneous in vivo reversion to normal of the original mutation or second-site compensatory mutations that restored production of the WAS gene product. The reasons underlying the high prevalence of this phenomenon in WAS are unclear and may include strong selective advantage of revertant cells over mutated populations, abnormally high general mutation rate and/or increased susceptibility of specific WAS gene sequences to DNA polymerase errors. Additional studies in human samples and in vitro/in vivo models of the disease will likely yield further insights into the mechanisms responsible for the occurrence of revertant mosaicism in WAS and elucidate additional biological characteristics of the WAS gene and protein.


Wiskott–Aldrich syndrome Reversion Mutation Mutation rate DNA polymerase Selective advantage Immunodeficiency Lymphocytes 


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Copyright information

© Humana Press Inc. 2009

Authors and Affiliations

  1. 1.Centre for Stem Cell Research, The Brown Foundation Institute of Molecular Medicine for the Prevention of Human DiseasesThe University of Texas Health Science Center at HoustonHoustonUSA
  2. 2.Genetics and Molecular Biology Branch, National Human Genome Research InstitutesNational Institutes of HealthBethesdaUSA

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