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Homozygous human TAP peptide transporter mutation in HLA class I deficiencyde la Salle, Henri ...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 gama delta T cells.Source: Science. - ISSN 0036-8075 (Let. 265, 1994, str. 237-241)Type of material - article, component partPublish date - 1994Language - englishCOBISS.SI-ID - 3588313
Author
de la Salle, Henri |
Hanau, Daniel |
Fricker, Dominique |
Urlacher, Arelette |
Kelly, Adrian |
Salamero, Jean |
Powis, Stephen H. |
Donato, Lionel |
Bausinger, Huguette |
Jeras, Matjaž
Topics
Histocompatibility antigens class i |
Analysis |
Metabolism |
Immunologic deficiency syndromes |
Genetics |
Immunology |
Carrier proteins |
Genetics |
Analysis |
Lymphocytes |
Immunology |
Aminoacid sequence |
Antigens cd |
Analysis |
Base sequence |
Homozygote |
Killer cells, natural |
Immunology |
Langerhans cells |
Immunology |
Leukocyte count |
Molecular sequence data |
Mutation |
T-lymphocyte subsets |
Immunology |
T-lymphocytes, cytotoxic |
Immunology
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Jeras, Matjaž | 01302 |
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