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Prepublished online as a Blood First Edition Paper on May 13, 2002; DOI 10.1182/blood-2001-12-0252.
Submitted December 17, 2001
Accepted April 3, 2002
A subject with a novel type I bare lymphocyte syndrome (BLS) has tapasin deficiency due to deletion of four exons by Alu-mediated recombination
Toshio Yabe*, Sumiyo Kawamura, Masako Sato, Koichi Kashiwase, Hidenori Tanaka, Yoshihide Ishikawa, Yoji Asao, Junko Oyama, Kazuma Tsuruta, Katsushi Tokunaga, Kenji Tadokoro, and Takeo Juji
* Corresponding author; email: to-yabe{at}tokyo.bc.jrc.or.jp.
HLA class I expression depends on the formation of a peptide-loading complex composed of class I heavy chain, ß2 microglobulin, the transporter associated with antigen processing (TAP), and tapasin that 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 that did not exhibit apparent TAP abnormalities but has a tapasin defect. The subject[[rad]]s tapasin gene has a 7.4-kilobase deletion between introns 3 and 7, and an Alu repeat-mediated unequal homologous recombination may be the cause of the deletion. No tapasin polypeptide was detected in the subject[[rad]]s cells. The cell surface class I expression level in tapasin-deficient cells was markedly reduced but not as profound as that in TAP-deficient cells. These results suggest that tapasin deficiency is another cause of type I BLS.
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