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We report a child with severe combined immunodeficiency (T\u2010B\u2010 SCID) due to ADA deficiency diagnosed at the age of 1\u2003month, whose lymphocyte counts including CD4+ and CD8+ T and NK cells began to improve after several months with normalization of ADA activity in Peripheral blood lymphocytes (PBL), as a result of somatic mosaicism caused by monoallelic reversion of the causative mutation in the <jats:italic>ADA<\/jats:italic> gene. He was not eligible for haematopoietic stem cell transplantation (HSCT) or gene therapy (GT); therefore he was placed on enzyme replacement therapy (ERT) with bovine PEG\u2010ADA. The follow\u2010up of metabolic and immunologic responses to ERT included gradual improvement in ADA activity in erythrocytes and transient expansion of most lymphocyte subsets, followed by gradual stabilization of CD4+ and CD8+ T (with na\u00efve phenotype) and NK cells, and sustained expansion of TCR\u03b3\u03b4+ T cells. This was accompanied by the disappearance of the revertant T cells as shown by DNA sequencing from PBL. Although the patient\u2019s clinical condition improved marginally, he later developed a germinal cell tumour and eventually died at the age of 67\u2003months from sepsis. This case adds to our current knowledge of spontaneous reversion of mutations in ADA deficiency and shows that the effects of the ERT may vary among these patients, suggesting that it could depend on the cell and type in which the somatic mosaicism is established upon reversion.<\/jats:p>","DOI":"10.1111\/j.1365-3083.2011.02593.x","type":"journal-article","created":{"date-parts":[[2011,6,14]],"date-time":"2011-06-14T15:59:28Z","timestamp":1308067168000},"page":"471-481","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Somatic Mosaicism Caused by Monoallelic Reversion of a Mutation in T Cells of a Patient with ADA\u2010SCID and the Effects of Enzyme Replacement Therapy on the Revertant 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