Bare lymphocyte syndrome type1

Definition:

Bare lymphocyte syndrome (BLS) is a rare recessive genetic immune disorder endorsed by a partial or complete absence of major histocompatibility complex (MHC) or human leukocyte antigen (HLA) expression. BLS could be grouped as Type I, Type II and Type III based on defective surface MHC expression. The mutations in the TAP subunits are one of the most common features of BLS type I. MHC I deficiency due to tapasin (TAPBP) deficiency was also discovered recently.

References:

[1]. Dilip Shrestha, et al. Bare lymphocyte syndrome: an opportunity to discover our immune system. Immunol Lett. 2012 Jan 30;141(2):147-57. [Content Brief]

[2]. Toshio Yabe, et al. A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination. Blood. 2002 Aug 15;100(4):1496-8. [Content Brief]

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