Usage Information

Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome
Hiroshi Furukawa, Shigeo Murata, Toshio Yabe, Naoki Shimbara, Naoto Keicho, Kouichi Kashiwase, Kaoru Watanabe, Yoshihide Ishikawa, Tatsuya Akaza, Kenji Tadokoro, Shigeto Tohma, Tetsufumi Inoue, Katsushi Tokunaga, Kazuhiko Yamamoto, Keiji Tanaka, Takeo Juji
Hiroshi Furukawa, Shigeo Murata, Toshio Yabe, Naoki Shimbara, Naoto Keicho, Kouichi Kashiwase, Kaoru Watanabe, Yoshihide Ishikawa, Tatsuya Akaza, Kenji Tadokoro, Shigeto Tohma, Tetsufumi Inoue, Katsushi Tokunaga, Kazuhiko Yamamoto, Keiji Tanaka, Takeo Juji
View: Text | PDF
Article

Splice acceptor site mutation of the transporter associated with antigen processing-1 gene in human bare lymphocyte syndrome

Abstract

Expression of histocompatibility leukocyte antigen (HLA) class I molecules on the cell surface depends on the heterodimer of the transporter associated with antigen processing 1 and 2 (TAP1 and TAP2), which transport peptides cleaved by proteasome to the class I molecules. Defects in the TAP2 protein have been reported in two families with HLA class I deficiency, the so-called bare lymphocyte syndrome (BLS) type I. We have, to our knowledge, identified for the first time a splice site mutation in the TAP1 gene of another BLS patient. In addition, class I heavy chains (HCs) did not form the normal complex with tapasin in the endoplasmic reticulum (ER) of the cells of our patient.

Authors

Hiroshi Furukawa, Shigeo Murata, Toshio Yabe, Naoki Shimbara, Naoto Keicho, Kouichi Kashiwase, Kaoru Watanabe, Yoshihide Ishikawa, Tatsuya Akaza, Kenji Tadokoro, Shigeto Tohma, Tetsufumi Inoue, Katsushi Tokunaga, Kazuhiko Yamamoto, Keiji Tanaka, Takeo Juji

×

Usage data is cumulative from November 2025 through November 2026.

Usage JCI PMC
Text version 860 35
PDF 294 21
Figure 532 1
Citation downloads 261 0
Totals 1,947 57
Total Views 2,004
(Click and drag on plot area to zoom in. Click legend items above to toggle)

Usage information is collected from two different sources: this site (JCI) and Pubmed Central (PMC). JCI information (compiled daily) shows human readership based on methods we employ to screen out robotic usage. PMC information (aggregated monthly) is also similarly screened of robotic usage.

Various methods are used to distinguish robotic usage. For example, Google automatically scans articles to add to its search index and identifies itself as robotic; other services might not clearly identify themselves as robotic, or they are new or unknown as robotic. Because this activity can be misinterpreted as human readership, data may be re-processed periodically to reflect an improved understanding of robotic activity. Because of these factors, readers should consider usage information illustrative but subject to change.

Advertisement