Molecular studies and NK cell function of a new case of TAP2 homozygous human deficiency

Clinical and Experimental Immunology

Volumn 125, Issue 2, 2001, Pages 274-282

  Matamoros, N ^a   Mila J ^a   Llano, M ^b   Balas, A ^c   Vicario, J L ^c   Pons, J ^a   Crespi C ^a   Martinez, N ^a   Iglesias Alzueta, J ^a   Lopez Botet M ^b  

^a HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^b HOSPITAL UNIVERSITARIO DE LA PRINCESA   (Spain)

^c Centro de Transfusión de la Comunidad de Madrid ^*  (Spain)

Author keywords

Immunodeficiency diseases; Lung; MHC; NK cells; Transporters

Indexed keywords

CD94 ANTIGEN; HLA ANTIGEN CLASS 1; HLA E ANTIGEN; IMMUNOGLOBULIN; IMMUNOGLOBULIN G2; POLYSACCHARIDE VACCINE;

ADULT; ANTIBODY RESPONSE; ANTIGEN EXPRESSION; ARTICLE; CELL FUNCTION; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; EXON; FEMALE; GENE MUTATION; HOMOZYGOSITY; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN DEFICIENCY; LUNG INFECTION; NATURAL KILLER CELL; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN TAP2 DEFICIENCY; RECURRENT INFECTION; VACCINATION;

AMINO ACID SEQUENCE; ATP-BINDING CASSETTE TRANSPORTERS; CELLS, CULTURED; CYSTEINE ENDOPEPTIDASES; CYTOTOXICITY TESTS, IMMUNOLOGIC; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; IMMUNOPHENOTYPING; K562 CELLS; KILLER CELLS, NATURAL; MOLECULAR SEQUENCE DATA; MULTIENZYME COMPLEXES; MUTATION; PROTEINS; SEVERE COMBINED IMMUNODEFICIENCY; T-LYMPHOCYTE SUBSETS;

EID: 0034893327     PISSN: 00099104     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2249.2001.01595.x     Document Type: Article

References (31)

1. Combined immunodeficiency disease associated with absence of cell surface HLA-A and B antigens
2. Bare lymphocytes without immunodeficiency
3. Homozygous human TAP peptide transporter mutation in HLA class I deficiency
4. Association of HLA class I antigen deficiency related to TAP2 gene mutation with familial bronchiectasis
5. Clinical and molecular studies of a new case of TAP peptide transporter deficiency. Abstracts Issue ESID'98
6. A new mutation in a TAP2 gene associated with defective expression of HLA Class I molecules and severe bronchiectasis in a Spanish patient. Abstracts of the 13th European Histocompatibility Conference
7. A case of primary immunodeficiency due to a defect of the major histocompatibility gene complex class I processing and presentation pathway
8. Tolerance of NK and LAK activity for HLA class I-deficient targets in a TAP1-deficient patient (Bare lymphocyte syndrome Type I)
9. Why are two TAPs?
10. How does TAP associate with MHC class I molecules?
11. - mice
12. Cell surface expression of HLA-E molecules on PBMC from a TAP1-deficient patient
13. Inefficient protection of human TAP-deficient fibroblast from autologous NK cell-mediated lysis by cytokines inducing HLA class I expression
14. HLA-E surface expression depends on binding of TAP-dependent peptides derived from certain HLA class I signal sequences
15. The CD94/NKG2A inhibitory receptor complex is involved in natural killer cell-mediated recognition of cells expressing HLA-G1
16. Triggering of effector functions on a CD8+ T cell clone upon the aggregation of an activatory CD94/kp39 heterodimer
17. Allelic variants of the human putative transporter involved in antigen processing
18. Molecular mapping of a recombination hotspot located in the second intron of the human TAP2 locus
19. HLA-E-bound peptides influence recognition by inhibitory and triggering CD94/NKG2 receptors: Preferential response to an HLA-G-derived nonamer
20. A common inhibitory receptor for major histocompatibility complex class I molecules on human lymphoid and myelomonocytic cells
21. Polymorphism in a second ABC transporter gene located within the class II region of the human region of the human major histocompatibility complex
22. HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1
23. Association syndrome resembling Wegener's granulomatosis with low surface expression of HLA class I molecules
24. Small cytoplasmic antigens from Pseudomonas aeruginosa stimulate γδ T lymphocytes
25. Recognition of stress-induced MHC molecules by intestinal epithelial gammadelta T cells
26. Human NK-cell receptors
27. Activity and phenotype of natural killer cells in peptide transporter (TAP)-deficient patients (Type 1 bare lymphocyte syndrome)
28. NKp44, a novel triggering surface molecule specifically expressed by activated natural killer cells, is involved in non-major histocompatibility complex-restricted tumor cell lysis
29. TAP- and tapasin-dependent HLA-E surface expression correlates with the binding of an MHC class I leader peptide
30. HLA-E surface expression depends on binding of TAP-dependent peptides derived from certain HLA class I signal sequences
31. TAP deficiency syndrome