Homozygous Human TAP Peptide Transporter Mutation in HLA Class I Deficiency

Henri de la Salle; Daniel Hanau; Dominique Fricker; Arlette Urlacher; Adrian Kelly; Jean Salamero; Stephen H. Powis; Lionel Donato; Huguette Bausinger; Michel Laforet; Matjaz Jeras; Danièle Spehner; Thomas Bieber; Annie Falkenrodt; Jean-Pierre Cazenave; John Trowsdale; Marie-Marthe Tongio

doi:10.1126/science.7517574

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Homozygous Human TAP Peptide Transporter Mutation in HLA Class I Deficiency

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Homozygous Human TAP Peptide Transporter Mutation in HLA Class I Deficiency

Henri de la Salle, Daniel Hanau, Dominique Fricker, Arlette Urlacher, Adrian Kelly, Jean Salamero, Stephen H. Powis, Lionel Donato, Huguette Bausinger, Michel Laforet, …

Science (American Association for the Advancement of Science), Vol.265(5169), pp.237-241

08/07/1994

DOI: https://doi.org/10.1126/science.7517574

PMID: 7517574

Résumé

Human lymphocyte antigen (HLA) class I proteins of the major histocompatibility complex are largely dependent for expression on small peptides supplied to them by transporter associated with antigen processing (TAP) protein. An inherited human deficiency in the TAP transporter was identified in two siblings suffering from recurrent respiratory bacterial infections. The expression on the cell surface of class I proteins was very low, whereas that of CD1a was normal, and the cytotoxicity of natural killer cells was affected. In addition, CD8 + αβ T cells were present in low but significant numbers and were cytotoxic in the most severely affected sibling, who also showed an increase in CD4 + CD8 + T cells and γδ T cells.

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Titre: Homozygous Human TAP Peptide Transporter Mutation in HLA Class I Deficiency
Créateurs - sans rôle: Henri de la Salle - Laboratoire d'Histocompatibilité, Centre Régional de Transfusion Sanguine, 67085 Strasbourg, France
Daniel Hanau - Laboratoire d'Histocompatibilité, Centre Régional de Transfusion Sanguine, 67085 Strasbourg, France
Dominique Fricker - Laboratoire d'Histocompatibilité, Centre Régional de Transfusion Sanguine, 67085 Strasbourg, France
Arlette Urlacher - Laboratoire d'Histocompatibilité, Centre Régional de Transfusion Sanguine, 67085 Strasbourg, France
Adrian Kelly - Imperial Cancer Research Fund Laboratories, Lincoln's Inn Fields, London WC2A 3PX, UK
Jean Salamero - Institut Curie
Stephen H. Powis - Imperial Cancer Research Fund Laboratories, Lincoln's Inn Fields, London WC2A 3PX, UK
Lionel Donato - Service de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, 67098 Strasbourg, France
Huguette Bausinger - Laboratoire d'Histocompatibilité, Centre Régional de Transfusion Sanguine, 67085 Strasbourg, France
Michel Laforet - Laboratoire d'Histocompatibilité, Centre Régional de Transfusion Sanguine, 67085 Strasbourg, France
Matjaz Jeras - Laboratoire d'Histocompatibilité, Centre Régional de Transfusion Sanguine, 67085 Strasbourg, France
Danièle Spehner - INSERM U 74 et Laboratoire commun Université Louis Pasteur/Synthélabo, Faculté de Médecine, 67085 Strasbourg, France
Thomas Bieber - Laboratoire d'Histocompatibilité, Centre Régional de Transfusion Sanguine, 67085 Strasbourg, France
Annie Falkenrodt - Laboratoire d'Hématologie Normale et Pathologique, Centre Régional de Transfusion Sanguine, 67085 Strasbourg, France
Jean-Pierre Cazenave - Inserm
John Trowsdale - Imperial Cancer Research Fund Laboratories, Lincoln's Inn Fields, London WC2A 3PX, UK
Marie-Marthe Tongio - Laboratoire d'Histocompatibilité, Centre Régional de Transfusion Sanguine, 67085 Strasbourg, France
Détails de publication: Science (American Association for the Advancement of Science), Vol.265(5169), pp.237-241
Nombre de pages: 5
Identifiants: 99159186309311
Unité académique: Institut de Génétique Humaine - IGH
Langue: English
Type de ressource: Journal article