Bare lymphocyte syndrome type2

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. A feature of loss in constitutive and inducible MHC II proteins have been grouped as BLS type II. BLS type III is recognized by the loss of both MHC I and MHC II molecules.

References:

[1]. A Peijnenburg, et al. Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene. Immunogenetics. 1999 Apr;49(4):338-45. [Content Brief]

[2]. B Durand, et al. RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency. EMBO J. 1997 Mar 3;16(5):1045-55. [Content Brief]

[3]. 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]

[4]. Magda Dziembowska, et al. Three novel mutations of the CIITA gene in MHC class II-deficient patients with a severe immunodeficiency. Immunogenetics. 2002 Feb;53(10-11):821-9. [Content Brief]

[5]. U M Nagarajan, et al. Novel mutations within the RFX-B gene and partial rescue of MHC and related genes through exogenous class II transactivator in RFX-B-deficient cells. J Immunol. 2000 Apr 1;164(7):3666-74. [Content Brief]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.