A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination.
Blood
; 100(4): 1496-8, 2002 Aug 15.
Article
en En
| MEDLINE
| ID: mdl-12149238
ABSTRACT
HLA class I expression depends on the formation of a peptide-loading complex composed of class I heavy chain; beta(2)-microglobulin; the transporter associated with antigen processing (TAP); and tapasin, which links TAP to the heavy chain. Defects in TAP result in a class I deficiency called the type I bare lymphocyte syndrome (BLS). In the present study, we examined a subject with a novel type I BLS who does not exhibit apparent TAP abnormalities but who has a tapasin defect. The subject's TAPASIN gene has a 7.4-kilobase deletion between introns 3 and 7; an Alu repeat-mediated unequal homologous recombination may be the cause of the deletion. No tapasin polypeptide was detected in the subject's cells. The cell surface class I expression level in tapasin-deficient cells was markedly reduced but the reduction was not as profound as in TAP-deficient cells. These results suggest that tapasin deficiency is another cause of type I BLS.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Inmunoglobulinas
/
Inmunodeficiencia Combinada Grave
/
Eliminación de Gen
/
Antiportadores
/
Elementos Alu
Límite:
Female
/
Humans
/
Middle aged
Idioma:
En
Revista:
Blood
Año:
2002
Tipo del documento:
Article
País de afiliación:
Japón