Homozygous human TAP peptide transporter mutation in HLA class I deficiency.
Science
; 265(5169): 237-41, 1994 Jul 08.
Article
en En
| MEDLINE
| ID: mdl-7517574
ABSTRACT
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.
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Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Linfocitos
/
Antígenos de Histocompatibilidad Clase I
/
Proteínas Portadoras
/
Transportadoras de Casetes de Unión a ATP
/
Síndromes de Inmunodeficiencia
Tipo de estudio:
Prognostic_studies
Límite:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Science
Año:
1994
Tipo del documento:
Article
País de afiliación:
Francia