title: Patients with X-linked lymphoproliferative disease have a defect in 2B4 receptor-mediated NK cell cytotoxicity.
abstract: Patients with the X-linked lymphoproliferative disorder (XLPD) are unable to control Epstein-Barr virus (EBV)-induced infections and lymphoproliferation. This disease is caused by a deficit of SAP, an adapter protein involved in the signal transduction of several cell surface receptors of the CD2 superfamily. One of these receptors, called 2B4, is expressed on NK cells, cytotoxic T cells and myeloid cells and activates NK cell cytotoxicity. Here we show that XLPD patients have a defect of 2B4 receptor-mediated NK cell cytotoxicity. This defect may contribute to the pathogenesis of XLPD by reducing NK cell lysis of EBV-infected B cells.
authors.affiliation: Basel Institute for Immunology, Basel, Switzerland. hideonak@nils.go.jp
authors.forename: H
authors.initials: H
authors.lastname: Nakajima
authors.forename: M
authors.initials: M
authors.lastname: Cella
authors.forename: A
authors.initials: A
authors.lastname: Bouchon
authors.forename: H L
authors.initials: HL
authors.lastname: Grierson
authors.forename: J
authors.initials: J
authors.lastname: Lewis
authors.forename: C S
authors.initials: CS
authors.lastname: Duckett
authors.forename: J I
authors.initials: JI
authors.lastname: Cohen
authors.forename: M
authors.initials: M
authors.lastname: Colonna
mesh_terms: D015703:Antigens, CD; D002352:Carrier Proteins / Q000235:genetics* / Q000276:immunology*; D002460:Cell Line; D003602:Cytotoxicity, Immunologic / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007694:Killer Cells, Natural / Q000276:immunology*; D008232:Lymphoproliferative Disorders / Q000235:genetics* / Q000276:immunology*; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000276:immunology*; D011971:Receptors, Immunologic / Q000235:genetics / Q000276:immunology; D015398:Signal Transduction / Q000235:genetics / Q000276:immunology; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D000071176:Signaling Lymphocytic Activation Molecule Family
chemical_list: D015703:Antigens, CD; C084093:CD244 protein, human; D002352:Carrier Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; D011971:Receptors, Immunologic; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D000071176:Signaling Lymphocytic Activation Molecule Family