Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome.
J Clin Invest
; 103(5): 755-8, 1999 Mar.
Article
en En
| MEDLINE
| ID: mdl-10074494
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.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Antígenos de Histocompatibilidad Clase I
/
Inmunodeficiencia Combinada Grave
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Presentación de Antígeno
/
Transportadoras de Casetes de Unión a ATP
/
Mutación
Tipo de estudio:
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Clin Invest
Año:
1999
Tipo del documento:
Article
País de afiliación:
Japón