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SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis

6 Jun 2012

Abstract excerpt

Hemophagocytic lymphohistiocytosis (HLH) is a multisystem inflammatory disorder due to cytokine overproduction from excessively activated lymphocytes and macrophages. HLH has been divided into two subgroups: primary HLH and secondary HLH. Primary HLH includes PRF1, UNC13D, STX11, STXBP2, RAB27A, LYST, SH2D1A and XIAP gene mutations; and secondary HLH is associated with infections, malignancies and autoimmune...

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PMID: 22672194
DOI: 10.1111/j.1442-200x.2012.03683.x

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