Bare lymphocyte syndrome type2
Definition:
References:
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[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]
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