| Autor: |
Yabe, Toshio, Kawamura, Sumiyo, Sato, Masako, Kashiwase, Koichi, Tanaka, Hidenori, Ishikawa, Yoshihide, Asao, Yoji, Oyama, Junko, Tsuruta, Kazuma, Tokunaga, Katsushi, Tadokoro, Kenji, Juji, Takeo |
| Zdroj: |
Blood; August 2002, Vol. 100 Issue: 4 p1496-1498, 3p |
| Abstrakt: |
HLA class I expression depends on the formation of a peptide-loading complex composed of class I heavy chain; β2-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. |
| Databáze: |
Supplemental Index |
| Externí odkaz: |
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