[Revertant somatic mosaicism in primary immunodeficiency diseases].
Revertant somatic mosaicism has been described in an increasing number of genetic disorders including primary immunodeficiency diseases. Both back mutations leading to restoration of wild-type sequences and second-site mutations resulting in compensatory changes have been demonstrated in mosaic individuals. Recent studies identifying revertant somatic mosaicism caused by multiple independent genetic changes further support its frequent occurrence in primary immunodeficiency diseases. Revertant mosaicism acquires a particular clinical relevance because it may lead to selective growth advantage of the corrected cells, resulting in improvement of disease symptoms or atypical clinical presentations. This phenomenon also provides us unique opportunities to evaluate the biological effects of restored gene expression in different cell lineages. Here we review the recent findings of revertant somatic mosaicism in primary immunodeficiency diseases and discuss its clinical implications.
Department of Pediatrics, School of Medicine, Institute of Medical, Pharmaceutical and Health Science, Kanazawa University.
Taizo
T
Wada
D015316:Genetic Therapy; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000628:therapy; D009030:Mosaicism; D009154:Mutation / Q000235:genetics*; D016511:Severe Combined Immunodeficiency; D014923:Wiskott-Aldrich Syndrome