Faculty Collaboration Database

Hemophagocytic lymphohistiocytosis: diagnosis, pathophysiology, treatment, and future perspectives. Ann Med 2006;38(1):20-31

Date

02/02/2006

Pubmed ID

16448985

DOI

10.1080/07853890500465189

Scopus ID

2-s2.0-31744445155 (requires institutional sign-in at Scopus site)   175 Citations

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening disease in which the immune system becomes overactive due to its inability to effectively respond to infections and/or shut down the immune response to such infections. The discovery of genetic defects in the secretory pathway of natural killer (NK) cells and cytotoxic T cells in some patients with this disease has raised important questions of the role of cytotoxic cells in the control of infections and in immune regulation. This review will give a brief overview of the clinical presentation and accepted treatment of HLH. Furthermore, it will give an in-depth review into the known genetic defects and current knowledge of the pathophysiology of this disorder, and will highlight recent evidence suggesting that cytotoxic defects in CD4+ T regulatory cells may contribute to the pathogenesis of HLH.

Author List

Verbsky JW, Grossman WJ

Author

James Verbsky MD, PhD Professor in the Pediatrics department at Medical College of Wisconsin

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

Animals
DNA
Diagnosis, Differential
Humans
Immunity, Cellular
Immunologic Factors
Killer Cells, Natural
Lymphohistiocytosis, Hemophagocytic
Membrane Glycoproteins
Mutation
Perforin
Pore Forming Cytotoxic Proteins
Signal Transduction
T-Lymphocyte Subsets
T-Lymphocytes, Cytotoxic