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Unusual immunophenotype of CD8+ T cells in familial hemophagocytic lymphohistiocytosis. Blood 2004 Oct 01;104(7):2007-9

Date

06/19/2004

Pubmed ID

15205266

DOI

10.1182/blood-2004-04-1431

Scopus ID

2-s2.0-4644280382   16 Citations

Abstract

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.

Author List

Karandikar NJ, Kroft SH, Yegappan S, Rogers BB, Aquino VM, Lee KM, Kumar V, Guenaga FJ, Jaffe ES, Douek DC, McKenna RW

Author

Steven Howard Kroft MD Chair, Professor in the Pathology department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Biopsy
CD5 Antigens
CD8-Positive T-Lymphocytes
Cell Division
DNA Mutational Analysis
Female
Flow Cytometry
Gene Rearrangement
Genes, T-Cell Receptor gamma
Histiocytosis, Non-Langerhans-Cell
Humans
Immunophenotyping
Infant, Newborn
Liver
Membrane Glycoproteins
Mutation, Missense
Perforin
Pore Forming Cytotoxic Proteins
Reverse Transcriptase Polymerase Chain Reaction
T-Lymphocytes
Time Factors