Unusual immunophenotype of CD8+ T cells in familial hemophagocytic lymphohistiocytosis

Nitin J. Karandikar, Steven H. Kroft, Subramanian Yegappan, Beverly B. Rogers, Victor M. Aquino, Kyung Mi Lee, Vinay Kumar, F. Javier Guenaga, Elaine S. Jaffe, Daniel C. Douek, Robert W. McKenna

Research output: Contribution to journalArticlepeer-review

18 Scopus citations


Familial hemophagocytic lymphohistiocytosis (FHL) is an inherited, fatal disorder of infancy. We report here a 17-day-old female infant who presented with high fever, hepatosplenomegaly, hypertriglyceridemia, hypofibrinogenemia, thrombocytopenia, and liver failure. Leukocytosis was detected with circulating "atypical" lymphoid cells. Flow cytometric studies revealed expanded subpopulations of CD8+ T cells with unusual immunophenotypic features, including a subset that lacked CD5 expression. A liver biopsy showed hemophagocytic lymphohistiocytosis with exuberant infiltrates of CD8+ T cells that lacked perforin. Mutational studies revealed a 666C→A (H222Q) missense mutation in the perforin gene. T-cell receptor studies on flow-sorted T-cell subpopulations revealed no evidence of monoclonality. Analysis of T-cell receptor excision circle levels indicated long proliferative history in the aberrant CD8+ T-cell subsets. This case provides an instructive example of uncontrolled reactive proliferation of CD8+ T cells in FHL, resulting in atypical morphology and unusual immunophenotypic features that might suggest malignancy in other clinical settings.

Original languageEnglish (US)
Pages (from-to)2007-2009
Number of pages3
Issue number7
StatePublished - Oct 1 2004

ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology


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