Note to users. If you're seeing this message, it means that your browser cannot find this page's style/presentation instructions -- or possibly that you are using a browser that does not support current Web standards. Find out more about why this message is appearing, and what you can do to make your experience of our site the best it can be.

Site Tools

  • AAAS
  • Subscribe
  • Feedback

Site Search

Search Advanced

Science 8 July 1994:
Vol. 265. no. 5169, pp. 237 - 241
DOI: 10.1126/science.7517574
Prev | Table of Contents | Next

Articles

Science, Vol 265, Issue 5169, 237-241
Copyright © 1994 by American Association for the Advancement of Science

articles

Homozygous human TAP peptide transporter mutation in HLA class I deficiency

H de la Salle, D Hanau, D Fricker, A Urlacher, A Kelly, J Salamero, SH Powis, L Donato, H Bausinger, M Laforet, and al. et

Laboratoire d'Histocompatibilite, Centre Regional de Transfusion Sanguine, Strasbourg, France.

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+ alpha beta 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 gamma delta T cells.


THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES:
Specific Targeting of the EBV Lytic Phase Protein BNLF2a to the Transporter Associated with Antigen Processing Results in Impairment of HLA Class I-Restricted Antigen Presentation.
D. Horst, D. van Leeuwen, N. P. Croft, M. A. Garstka, A. D. Hislop, E. Kremmer, A. B. Rickinson, E. J. H. J. Wiertz, and M. E. Ressing (2009)
J. Immunol. 182, 2313-2324
   Abstract »    Full Text »    PDF »
IL-15 trans-presentation promotes human NK cell development and differentiation in vivo.
N. D. Huntington, N. Legrand, N. L. Alves, B. Jaron, K. Weijer, A. Plet, E. Corcuff, E. Mortier, Y. Jacques, H. Spits, et al. (2009)
J. Exp. Med. 206, 25-34
   Abstract »    Full Text »    PDF »
Activation of Antigen-Specific Cytotoxic T Lymphocytes by {beta}2-Microglobulin or TAP1 Gene Disruption and the Introduction of Recipient-Matched MHC Class I Gene in Allogeneic Embryonic Stem Cell-Derived Dendritic Cells.
Y. Matsunaga, D. Fukuma, S. Hirata, S. Fukushima, M. Haruta, T. Ikeda, I. Negishi, Y. Nishimura, and S. Senju (2008)
J. Immunol. 181, 6635-6643
   Abstract »    Full Text »    PDF »
The Varicellovirus UL49.5 Protein Blocks the Transporter Associated with Antigen Processing (TAP) by Inhibiting Essential Conformational Transitions in the 6+6 Transmembrane TAP Core Complex.
M. C. Verweij, D. Koppers-Lalic, S. Loch, F. Klauschies, H. de la Salle, E. Quinten, P. J. Lehner, A. Mulder, M. R. Knittler, R. Tampe, et al. (2008)
J. Immunol. 181, 4894-4907
   Abstract »    Full Text »    PDF »
Identification of a Lysosomal Peptide Transport System Induced during Dendritic Cell Development.
O. Demirel, Z. Waibler, U. Kalinke, F. Grunebach, S. Appel, P. Brossart, A. Hasilik, R. Tampe, and R. Abele (2007)
J. Biol. Chem. 282, 37836-37843
   Abstract »    Full Text »    PDF »
Genetic Control of Alternative Splicing in the TAP2 Gene: Possible Implication in the Genetics of Type 1 Diabetes.
H.-Q. Qu, Y. Lu, L. Marchand, F. Bacot, R. Frechette, M.-C. Tessier, A. Montpetit, and C. Polychronakos (2007)
Diabetes 56, 270-275
   Abstract »    Full Text »    PDF »
Catalytic Site Modifications of TAP1 and TAP2 and Their Functional Consequences.
C. L. Perria, V. Rajamanickam, P. E. Lapinski, and M. Raghavan (2006)
J. Biol. Chem. 281, 39839-39851
   Abstract »    Full Text »    PDF »
Functional aberrant expression of CCR2 receptor on chronically activated NK cells in patients with TAP-2 deficiency.
J. Hanna, H. Mussaffi, G. Steuer, S. Hanna, M. Deeb, H. Blau, T. I. Arnon, N. Weizman, and O. Mandelboim (2005)
Blood 106, 3465-3473
   Abstract »    Full Text »    PDF »
Low Potential for Large Intraslab Earthquakes in the Central Cascadia Subduction Zone.
I. G. Wong (2005)
Bulletin of the Seismological Society of America 95, 1880-1902
   Abstract »    Full Text »    PDF »
Clinical and immunological aspects of HLA class I deficiency.
J. Zimmer, E. Andres, L. Donato, D. Hanau, F. Hentges, and H. de la Salle (2005)
QJM 98, 719-727
   Abstract »    Full Text »    PDF »
Expression Profiling of ABC Transporters in a Drug-Resistant Breast Cancer Cell Line Using AmpArray.
Y. Liu, H. Peng, and J.-T. Zhang (2005)
Mol. Pharmacol. 68, 430-438
   Abstract »    Full Text »    PDF »
HLA-G*0105N Null Allele Encodes Functional HLA-G Isoforms.
M. Le Discorde, C. Le Danff, P. Moreau, N. Rouas-Freiss, and E. D. Carosella (2005)
Biol Reprod 73, 280-288
   Abstract »    Full Text »    PDF »
IFN Regulatory Factor-2 Cooperates with STAT1 to Regulate Transporter Associated with Antigen Processing-1 Promoter Activity.
M.-C. Rouyez, M. Lestingi, M. Charon, S. Fichelson, A. Buzyn, and I. Dusanter-Fourt (2005)
J. Immunol. 174, 3948-3958
   Abstract »    Full Text »    PDF »
The ABCs of Immunology: Structure and Function of TAP, the Transporter Associated with Antigen Processing.
R. Abele and R. Tampe (2004)
Physiology 19, 216-224
   Abstract »    Full Text »    PDF »
The Molecular Pathology of Primary Immunodeficiencies.
M. S. Lim and K. S.J. Elenitoba-Johnson (2004)
J. Mol. Diagn. 6, 59-83
   Full Text »    PDF »
The mechanisms controlling NK cell autoreactivity in TAP2-deficient patients.
G. Markel, H. Mussaffi, K.-L. Ling, M. Salio, S. Gadola, G. Steuer, H. Blau, H. Achdout, M. de Miguel, T. Gonen-Gross, et al. (2004)
Blood 103, 1770-1778
   Abstract »    Full Text »    PDF »
A multivalent bcr-abl fusion peptide vaccination trial in patients with chronic myeloid leukemia.
K. Cathcart, J. Pinilla-Ibarz, T. Korontsvit, J. Schwartz, V. Zakhaleva, E. B. Papadopoulos, and D. A. Scheinberg (2004)
Blood 103, 1037-1042
   Abstract »    Full Text »    PDF »
Life and death of the Resurrection plate: Evidence for its existence and subduction in the northeastern Pacific in Paleocene-Eocene time.
P. J. Haeussler, D. C. Bradley, R. E. Wells, and M. L. Miller (2003)
Geological Society of America Bulletin 115, 867-880
   Abstract »    Full Text »    PDF »
A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination.
T. Yabe, S. Kawamura, M. Sato, K. Kashiwase, H. Tanaka, Y. Ishikawa, Y. Asao, J. Oyama, K. Tsuruta, K. Tokunaga, et al. (2002)
Blood 100, 1496-1498
   Abstract »    Full Text »    PDF »
Analysis of natural killer cells in TAP2-deficient patients: expression of functional triggering receptors and evidence for the existence of inhibitory receptor(s) that prevent lysis of normal autologous cells.
M. Vitale, J. Zimmer, R. Castriconi, D. Hanau, L. Donato, C. Bottino, L. Moretta, H. de la Salle, and A. Moretta (2002)
Blood 99, 1723-1729
   Abstract »    Full Text »    PDF »
The Transporter Associated With Antigen Processing: Function and Implications in Human Diseases.
B. Lankat-Buttgereit and R. Tampe (2002)
Physiol Rev 82, 187-204
   Abstract »    Full Text »    PDF »
HLA-G2, -G3, and -G4 Isoforms Expressed as Nonmature Cell Surface Glycoproteins Inhibit NK and Antigen-Specific CTL Cytolysis.
B. Riteau, N. Rouas-Freiss, C. Menier, P. Paul, J. Dausset, and E. D. Carosella (2001)
J. Immunol. 166, 5018-5026
   Abstract »    Full Text »    PDF »
Identification of sequences in the human peptide transporter subunit TAP1 required for transporter associated with antigen processing (TAP) function.
U. Ritz, F. Momburg, H.-P. Pircher, D. Strand, C. Huber, and B. Seliger (2001)
Int. Immunol. 13, 31-41
   Abstract »    Full Text »    PDF »
Primary Immunodeficiency Diseases Due to Defects in Lymphocytes.
R. H. Buckley (2000)
N. Engl. J. Med. 343, 1313-1324
   Full Text »    PDF »
New aeromagnetic data reveal large strike-slip (?) faults in the northern Willamette Valley, Oregon.
R. J. Blakely, R. J. Blakely, R. E. Wells, T. L. Tolan, M. H. Beeson, A. M. Trehu, and L. M. Liberty (2000)
Geological Society of America Bulletin 112, 1225-1233
   Abstract »    Full Text »    PDF »
CD1d-Specific NK1.1+ T Cells with a Transgenic Variant TCR.
M. Skold, N. N. Faizunnessa, C.-R. Wang, and S. Cardell (2000)
J. Immunol. 165, 168-174
   Abstract »    Full Text »    PDF »
Limited Diversity of Peptides Related to an Alloreactive T Cell Epitope in the HLA-B27-Bound Peptide Repertoire Results from Restrictions at Multiple Steps Along the Processing-Loading Pathway.
A. Paradela, I. Alvarez, M. Garcia-Peydro, L. Sesma, M. Ramos, J. Vazquez, and J. A. Lopez de Castro (2000)
J. Immunol. 164, 329-337
   Abstract »    Full Text »    PDF »
Integration of high-resolution seismic and aeromagnetic data for earthquake hazards evaluations: An example from the Willamette Valley, Oregon.
L. M. Liberty, A. M. Trehu, R. J. Blakely, and M. E. Dougherty (1999)
Bulletin of the Seismological Society of America 89, 1473-1483
   Abstract »    PDF »
Strain Variation in Autoimmunity: Attempted Tolerization of DA Rats Results in the Induction of Experimental Autoimmune Encephalomyelitis.
D. C. Lenz, N. A. Wolf, and R. H. Swanborg (1999)
J. Immunol. 163, 1763-1768
   Abstract »    Full Text »    PDF »
An Invariant T Cell Receptor alpha  Chain Defines a Novel TAP-independent Major Histocompatibility Complex Class Ib-restricted alpha /beta T Cell Subpopulation in Mammals.
F. Tilloy, E. Treiner, S.-H. Park, C. Garcia, F. Lemonnier, H. de la Salle, A. Bendelac, M. Bonneville, and O. Lantz (1999)
J. Exp. Med. 189, 1907-1921
   Abstract »    Full Text »    PDF »
A Fluorescence-Based High Throughput Screen for the Transporter Associated with Antigen Processing.
J. M. Blevitt, K. Fruh, C. Glass, M. R. Jackson, P. A. Peterson, and S. Huang (1999)
J Biomol Screen 4, 87-91
   Abstract »    PDF »
Alloreactivity as a Source of High Avidity Peptide-Specific Human CTL.
C. Munz, R. Obst, W. Osen, S. Stevanovic, and H.-G. Rammensee (1999)
J. Immunol. 162, 25-34
   Abstract »    Full Text »    PDF »
Interferon Induction of TAP1 : The Phosphatase SHP-1 Regulates Crossover Between the IFN-{alpha}/ß and the IFN-{gamma} Signal-Transduction Pathways.
W. Min, J. S. Pober, and D. R. Johnson (1998)
Circ. Res. 83, 815-823
   Abstract »    Full Text »    PDF »
Different Requirements for Signal Transducer and Activator of Transcription 1alpha and Interferon Regulatory Factor 1 in the Regulation of Low Molecular Mass Polypeptide 2 and Transporter Associated with Antigen Processing 1 Gene Expression.
M. Chatterjee-Kishore, R. Kishore, D. J. Hicklin, F. M. Marincola, and S. Ferrone (1998)
J. Biol. Chem. 273, 16177-16183
   Abstract »    Full Text »    PDF »
Mouse CD1-Autoreactive T Cells Have Diverse Patterns of Reactivity to CD1+ Targets.
L. Brossay, S. Tangri, M. Bix, S. Cardell, R. Locksley, and M. Kronenberg (1998)
J. Immunol. 160, 3681-3688
   Abstract »    Full Text »    PDF »
Natural and Engineered Disorders of Lymphocyte Development.
A. Fischer and B. Malissen (1998)
Science 280, 237-243
   Abstract »    Full Text »
Intracellular Pathway for the Generation of Functional MHC Class II Peptide Complexes in Immature Human Dendritic Cells.
C. Saudrais, D. Spehner, H. de la Salle, A. Bohbot, J.-P. Cazenave, B. Goud, D. Hanau, and J. Salamero (1998)
J. Immunol. 160, 2597-2607
   Abstract »    Full Text »    PDF »
Functional Analysis by Site-Directed Mutagenesis of the Complex Polymorphism in Rat Transporter Associated with Antigen Processing.
E. V. Deverson, L. Leong, A. Seelig, W. J. Coadwell, E. M. Tredgett, G. W. Butcher, and J. C. Howard (1998)
J. Immunol. 160, 2767-2779
   Abstract »    Full Text »    PDF »
Activity and Phenotype of Natural Killer Cells in Peptide Transporter (TAP)-deficient Patients (Type I Bare Lymphocyte Syndrome).
J. Zimmer, L. Donato, D. Hanau, J.-P. Cazenave, M.-M. Tongio, A. Moretta, and H. d. l. Salle (1998)
J. Exp. Med. 187, 117-122
   Abstract »    Full Text »    PDF »
Downregulation of TAP1 in B Lymphocytes by Cellular and Epstein-Barr Virus-Encoded Interleukin-10.
R. Zeidler, G. Eissner, P. Meissner, S. Uebel, R. Tampe, S. Lazis, and W. Hammerschmidt (1997)
Blood 90, 2390-2397
   Abstract »    Full Text »    PDF »
Interferon-gamma Rapidly Increases Peptide Transporter (TAP) Subunit Expression and Peptide Transport Capacity in Endothelial Cells.
W. Ma, P. J. Lehner, P. Cresswell, J. S. Pober, and D. R. Johnson (1997)
J. Biol. Chem. 272, 16585-16590
   Abstract »    Full Text »    PDF »
Human Histocompatibility Leukocyte Antigen (HLA)-G Molecules Inhibit NKAT3 Expressing Natural Killer Cells.
C. Munz, N. Holmes, A. King, Y. W. Loke, M. Colonna, H. Schild, and H.-G. Rammensee (1997)
J. Exp. Med. 185, 385-392
   Abstract »    Full Text »    PDF »
The Primary Immunodeficiencies.
F. S. Rosen, M. D. Cooper, and R. J.P. Wedgwood (1995)
N. Engl. J. Med. 333, 431-440
   Full Text »    PDF »
CD1-restricted T cell recognition of microbial lipoglycan antigens.
P. Sieling, D Chatterjee, S. Porcelli, T. Prigozy, R. Mazzaccaro, T Soriano, B. Bloom, M. Brenner, M Kronenberg, P. Brennan, et al. (1995)
Science 269, 227-230
   Abstract »    PDF »
Assembly and Intracellular Transport of MHC Class I and Class II Molecules.
M.R. Jackson, K. Fruh, L. Karlsson, L. Teyton, Y. Yang, and P.A. Peterson (1995)
Cold Spring Harb Symp Quant Biol 60, 249-261
   Abstract »    PDF »
Dependence of Elevated Human Leukocyte Antigen Class I Molecule Expression on Increased Heavy Chain, Light Chain (beta 2-Microglobulin), Transporter Associated with Antigen Processing, Tapasin, and Peptide.
D. R. Johnson and B. Mook-Kanamori (2000)
J. Biol. Chem. 275, 16643-16649
   Abstract »    Full Text »    PDF »


To Advertise     Find Products

Science. ISSN 0036-8075 (print), 1095-9203 (online)