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Article

Homozygous human TAP peptide transporter mutation in HLA class I deficiency.

Science (New York, N.Y.) - 8 Jul 1994

de la Salle H, Hanau D, Fricker D, Urlacher A, Kelly A, Salamero J, Powis S H, Donato L, Bausinger H, Laforet M

Abstract excerpt

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...

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PMID: 7517574
DOI: 10.1126/science.7517574

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Homozygous human TAP peptide transporter mutation in HLA class I deficiency.PMID 7517574Read ↗

Asymptomatic deficiency in the peptide transporter associated to antigen processing (TAP).Semantic proximity Read ↗

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Clinical and immunological aspects of HLA class I deficiencySemantic proximity Read ↗

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Activity and phenotype of natural killer cells in peptide transporter (TAP)-deficient patients (type I bare lymphocyte syndrome).Semantic proximity Read ↗

Allele-dependent processing pathways generate the endogenous human leukocyte antigen (HLA) class I peptide repertoire in transporters associated with antigen processing (TAP)-deficient cells.Semantic proximity Read ↗

Cell lines transfected with the TAP inhibitor ICP47 allow testing peptide binding to a variety of HLA class I molecules.Semantic proximity Read ↗

Phenotypic and pathomechanistic overlap between tapasin and TAP deficiencies.Semantic proximity Read ↗

Absence of functional relevance of human transporter associated with antigen processing polymorphism for peptide selection.Semantic proximity Read ↗

HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1.Semantic proximity Read ↗

Peptide transport in human lymphoblastoid and tumor cells: effect of transporter associated with antigen presentation (TAP) polymorphism.Semantic proximity Read ↗

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