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Volume 352:306-307 January 20, 2005 Number 3
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Autoimmune Lymphoproliferative Syndrome and Perforin

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 by Clementi, R.
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To the Editor: Clementi et al. (Sept. 30 issue)1 describe the occurrence of autoimmune lymphoproliferative syndrome (ALPS) and lymphoma in a patient carrying both a heterozygous Fas mutation and a heterozygous mutation in the perforin gene (Prf1). It is likely that, in addition to Fas mutations, associated genetic defects could contribute to the ALPS phenotype.2 However, the possibility that the described Prf1 variant, which resulted in the replacement of asparagine with serine at position 252 of the perforin protein (N252S), would be such an associated factor is questionable. Although this variant was identified in a patient with hemophagocytic . . . [Full Text of this Article]


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