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Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome.
- Source :
-
The Journal of clinical investigation [J Clin Invest] 1999 Mar; Vol. 103 (5), pp. 755-8. - Publication Year :
- 1999
-
Abstract
- Expression of histocompatibility leukocyte antigen (HLA) class I molecules on the cell surface depends on the heterodimer of the transporter associated with antigen processing 1 and 2 (TAP1 and TAP2), which transport peptides cleaved by proteasome to the class I molecules. Defects in the TAP2 protein have been reported in two families with HLA class I deficiency, the so-called bare lymphocyte syndrome (BLS) type I. We have, to our knowledge, identified for the first time a splice site mutation in the TAP1 gene of another BLS patient. In addition, class I heavy chains (HCs) did not form the normal complex with tapasin in the endoplasmic reticulum (ER) of the cells of our patient.
- Subjects :
- ATP Binding Cassette Transporter, Subfamily B, Member 2
ATP-Binding Cassette Transporters immunology
Antigen Presentation immunology
Female
Humans
Male
Severe Combined Immunodeficiency immunology
ATP-Binding Cassette Transporters genetics
Antigen Presentation genetics
Histocompatibility Antigens Class I immunology
Mutation
Severe Combined Immunodeficiency genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0021-9738
- Volume :
- 103
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- The Journal of clinical investigation
- Publication Type :
- Academic Journal
- Accession number :
- 10074494
- Full Text :
- https://doi.org/10.1172/JCI5335