A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination.
Yabe T, Kawamura S, Sato M, Kashiwase K, Tanaka H, Ishikawa Y, Asao Y, Oyama J, Tsuruta K, Tokunaga K, Tadokoro K, Juji T Blood 2002(4): 1496-8
[PubMed abstract].
