X-linked severe combined immunodeficiency disease and the gamma c receptor component: prospects for molecular diagnosis
Abstract
CLINICAL AND DIAGNOSTIC LABORATORY IMMUNOLOGY, Sept. 1995, p. 518–523 1071-412X/95/$04.00 0 Copyright 1995, American Society for Microbiology Vol. 2, No. 5 X-Linked Severe Combined Immunodeficiency Disease and the c Receptor Component: Prospects for Molecular Diagnosis NANCY L. FARNER,1 STEPHAN D. VOSS,1† AND PAUL M. SONDEL2,3* Department of Human Oncology1 and Department of Pediatrics and Genetics,2 University of Wisconsin, and University of Wisconsin Comprehensive Cancer Center,3 Madison, Wisconsin 53792 The role of interleukin-2 (IL-2) in immune function has been studied extensively. Cellular receptors for IL-2 (IL-2R) on lymphocytes and certain other cells have been characterized and are responsible for transmitting the cellular response to IL-2. The importance of the IL-2R chain has been emphasized by analyses of IL-2R expression on functional T cells and natural killer (NK) cells and by its role in the pathophysiology of X-linked severe combined immunodeficiency disease (XSCID). This minireview summarizes these findings, emphasizing the complexities in establishing a clinical assay system for characterizing defects in the IL-2R subunit and the atypic expression of these defects in patients with SCID or their unaffected carriers. XSCID XSCID is an immunodeficiency in which both cell-mediated and humoral immunities are absent (1, 3, 12, 14, 18, 33, 41,