title: Skewed inhibitory receptors expression in a TAP2-deficient patient.
abstract: Most of patients suffering from HLA class I deficiency due to mutations in TAP genes show a significative increase of the peripheral minor Vdelta1+ subpopulation of gammadelta T cells. Surface expression of inhibitory receptors (IR) for HLA class I molecules have been mainly attributed to Vdelta2+ gammadelta T clones. In this study we have analysed the expression of these receptors in both subsets of gammadelta T peripheral lymphocytes. We studied 16 healthy controls and a reported case of homozygous TAP2 mutation with a marked increase of Vdelta1+ gammadelta T cells. MICA/B presence in monocytes was also evaluated. In healthy subjects, the expression of CD94 and CD94/NKG2A was higher in the Vdelta2+ subset but cells bearing the IR ILT2 were found increased in the Vdelta1+. The patient Vdelta2+ gammadelta T cells showed the same IR expression than normal controls, in contrast the Vdelta1+ subset presented a special pattern of very high expression of CD94 and ILT2 and low of CD94/NKG2A. The presence of a new IR poorly represented in healthy individuals could account for the selective increase of Vdelta1+ gammadelta T in TAP-deficient patients. MICA/B surface expression in monocytes was not shifted in our patient.
authors.affiliation: Immunology Service, Hospital Universitari Son Dureta, Balearic Islands, Palma de Mallorca, Spain
authors.forename: Catalina
authors.initials: C
authors.lastname: Crespí
authors.forename: M
authors.initials: M
authors.lastname: Rosa Julià
authors.forename: Iván
authors.initials: I
authors.lastname: Muñoz-Saa
authors.forename: M Teresa
authors.initials: MT
authors.lastname: Pérez-Castellano
authors.forename: Joan
authors.initials: J
authors.lastname: Milà
authors.forename: Núria
authors.initials: N
authors.lastname: Matamoros
mesh_terms: D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000328:Adult; D015703:Antigens, CD / Q000378:metabolism; D005260:Female; D006099:Granuloma / Q000235:genetics / Q000276:immunology*; D015395:Histocompatibility Antigens Class I / Q000032:analysis / Q000378:metabolism; D006801:Humans; D008297:Male; D009000:Monocytes / Q000276:immunology; D009154:Mutation; D055654:NK Cell Lectin-Like Receptor Subfamily C; D016692:Receptors, Antigen, T-Cell, gamma-delta / Q000032:analysis; D011971:Receptors, Immunologic / Q000032:analysis / Q000378:metabolism*; D055607:Receptors, Natural Killer Cell; D012871:Skin Diseases / Q000235:genetics / Q000276:immunology*; D016176:T-Lymphocyte Subsets / Q000276:immunology*
chemical_list: D000071450:ATP Binding Cassette Transporter, Subfamily B, Member 3; D018528:ATP-Binding Cassette Transporters; D015703:Antigens, CD; D015395:Histocompatibility Antigens Class I; C527054:KLRC1 protein, human; C099187:MHC class I-related chain A; D055654:NK Cell Lectin-Like Receptor Subfamily C; D016692:Receptors, Antigen, T-Cell, gamma-delta; D011971:Receptors, Immunologic; D055607:Receptors, Natural Killer Cell; C071692:TAP2 protein, human