Atypical features of familial hemophagocytic lymphohistiocytosis

Rosanna Busiello, Marsilio Adriani, Franco Locatelli, Mario Galgani, Giorgia Fimiani, Rita Clementi, Matilde Valeria Ursini, Luigi Racioppi, Claudio Pignata

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)4610-4612
Number of pages3
Issue number12
Publication statusPublished - Jun 15 2004

ASJC Scopus subject areas

  • Hematology


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