Article
Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.
Blood - 24 Jun 2010
Dowdell Kennichi C, Niemela Julie E, Price Susan, Davis Joie, Hornung Ronald L, Oliveira João Bosco, Puck Jennifer M, Jaffe Elaine S, Pittaluga Stefania, Cohen Jeffrey I, Fleisher Thomas A, Rao V Koneti
Abstract excerpt
Autoimmune lymphoproliferative syndrome (ALPS) is characterized by childhood onset of lymphadenopathy, hepatosplenomegaly, autoimmune cytopenias, elevated numbers of double-negative T (DNT) cells, and increased risk of lymphoma. Most cases of ALPS are associated with germline mutations of the FAS gene (type Ia), whereas some cases have been noted to have a somatic mutation of FAS primarily in their DNT cells. We...
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