Development of hemophagocytic lymphohistiocytosis in triplets infected with HHV-8

Academic Article


  • Hemophagocytic lymphohistiocytosis (HLH) is a rare disorder of immune dysregulation, characterized by end-organ damage from lymphocytic infiltration and macrophage activation. All known mutations associated with the HLH occur in genes critical in the perforin-granzyme pathway. Herein, we report HLH occurring in 2 female triplet infants who also had associated human herpesvirus type 8 (HHV-8) infections. The subjects had identical novel compound-heterozygous mutations in the Perform alleles, resulting in undetectable perform expression and NK-cell cytotoxicity. Both infants also had evidence of infection with HHV-8. These reports are, to our knowledge, the first cases of HLH in triplets and the first reported cases of HHV-8 infection associated with HLH in non-renal transplant and non-HIV-infected subjects. © 2005 by The American Society of Hematology.
  • Published In

  • Blood  Journal
  • Digital Object Identifier (doi)

    Author List

  • Grossman WJ; Radhi M; Schauer D; Gerday E; Grose C; Goldman FD
  • Start Page

  • 1203
  • End Page

  • 1206
  • Volume

  • 106
  • Issue

  • 4