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SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage

13 Dec 2013

Abstract excerpt

SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase and a nuclease that restricts HIV-1 in noncycling cells. Germ-line mutations in SAMHD1 have been described in patients with Aicardi-Goutières syndrome (AGS), a congenital autoimmune disease. In a previous longitudinal whole genome sequencing study of chronic lymphocytic leukemia (CLL), we revealed a SAMHD1 mutation as a potential founding event. Here,...

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Identifiers

PMID: 24335234
DOI: 10.1182/blood-2013-04-490847

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