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Somatic mosaicism in primary immune deficiencies a b Taizo Wada and Fabio Candotti Department of Pediatrics, Graduate School of Medical Purpose of review Science, Kanazawa University, Kanazawa, Japan and Spontaneous genetic reversions and second-site mutations resulting in revertant somatic Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes mosaicism are poorly understood phenomena with a seemingly frequent occurrence in of Health, Bethesda, Maryland, USA primary immunodeficiency diseases. Here we summarize the several cases that have been Correspondence to Fabio Candotti, MD, Head, reported thus far with particular focus on the most recent observations. Disorders of Immunity Section, Genetics and Molecular Recent findings Biology Branch, National Human Genome Research Institute, National Institutes of Health, 49 Convent Dr, Revertant cells have been associated with attenuated clinical phenotypes in some, Blg. 49, Rm 3A04, MSC 4442, Bethesda, although not all, immunodeficient patients who presented with somatic mosaicism. MD 20892-4442, USA Tel: +1 301 435 2944/402 2347; fax: +1 301 480 Interestingly, the latest studies suggest that revertant cells may also be responsible for 3678; e-mail: fabio@nhgri.nih.gov immune dysregulation. In addition, extensive molecular analysis of revertant cells has Current Opinion in Allergy and Clinical revealed that an unexpectedly large variety
Current Opinion in Allergy and Clinical Immunology – Wolters Kluwer Health
Published: Dec 1, 2008
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