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- W2033525812 abstract "Reticular dysgenesis (RD) is a rare form of severe combined immunodeficiency (SCID). The underlying genetic defect for most cases of RD was recently identified in the gene encoding adenylate kinase 2 (AK2). However, rare patients with RD and no mutations in AK2 exist, suggesting that mutations in other genes may also cause RD. Although rare, RD has a devastating presentation involving severe neutropenia and T cell lymphopenia, in addition to life non-threatening, but still disabling sensori-neural deafness. An identical phenotype is observed in mice deficient for growth factor independence-1 (Gfi-1) or transgenic for Gfi-1b, related nucleoproteins with opposing, antagonizing roles in development. We hypothesize that a genetically based, altered functional balance between these two factors may be an alternative cause of RD." @default.
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- W2033525812 date "2010-03-01" @default.
- W2033525812 modified "2023-09-24" @default.
- W2033525812 title "Altered functional balance of Gfi-1 and Gfi-1b as an alternative cause of reticular dysgenesis?" @default.
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- W2033525812 doi "https://doi.org/10.1016/j.mehy.2009.09.053" @default.
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