Atypical features of familial hemophagocytic lymphohistiocytosis.


Journal Article

Familial hemophagocytic lymphohistiocytosis (FHLH) is a rare, rapidly progressive disorder of early childhood characterized by uncontrolled activation of T cells and macrophages. Although perforin gene mutations have been described in a proportion of patients with FHLH, the genotype/phenotype correlation is still limited. Only a few patients with late onset clinical manifestations have been reported. The biochemical and immunologic alterations in the asymptomatic phase are not well known. We report on a family in which 2 fraternal twins both homozygous for a perforin mutation previously described as causative of the disease, markedly differed in phenotypic expression of FHLH. The twins also had a second novel heterozygous mutation. Natural killer (NK) activity was severely impaired in the patient and was normal in the asymptomatic fraternal twin. Our report highlights that FHLH may present after a long disease-free interval during which biochemical or immunologic alterations may be not evident, thus implying a role for interfering factors.

Full Text

Duke Authors

Cited Authors

  • Busiello, R; Adriani, M; Locatelli, F; Galgani, M; Fimiani, G; Clementi, R; Ursini, MV; Racioppi, L; Pignata, C

Published Date

  • June 15, 2004

Published In

Volume / Issue

  • 103 / 12

Start / End Page

  • 4610 - 4612

PubMed ID

  • 14739222

Pubmed Central ID

  • 14739222

International Standard Serial Number (ISSN)

  • 0006-4971

Digital Object Identifier (DOI)

  • 10.1182/blood-2003-10-3551


  • eng

Conference Location

  • United States