SEARCH:   Advanced

Blood, 1 October 2004, Vol. 104, No. 7, pp. 2007-2009. Prepublished online as a Blood First Edition Paper on June 17, 2004; DOI 10.1182/blood-2004-04-1431. This Article Full Text (PDF) All Versions of this Article: 2004-04-1431v1 104/7/2007    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Karandikar, N. J Articles by McKenna, R. W Search for Related Content PubMed PubMed Citation Articles by Karandikar, N. J Articles by McKenna, R. W Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted April 15, 2004 Accepted May 25, 2004 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 J Guenaga, Elaine S Jaffe, Daniel C Douek, and Robert W McKenna Pathology, UT Southwestern Medical Center, Dallas, TX, USA Pediatrics, UT Southwestern Medical Center, Dallas, TX, USA Pathology, University of Chicago, Chicago, IL, USA; Korea University College of Medicine, Seoul, Korea, Democratic People's Rep Pathology, University of Chicago, Chicago, IL, USA Vaccine Research Center/NIAID, National Institutes of Health, Bethesda, MD, USA Laboratory of Pathology/NCI, National Institutes of Health, Bethesda, MD, USA * Corresponding author; email: nitin{at}pathology.swmed.edu. 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 666CA (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 may suggest malignancy in other clinical settings. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this?

	Copyright © 2004 by American Society of Hematology         Online ISSN: 1528-0020