Nekrep Nada, Jabrane-Ferrat Nabila, Wolf Hermann M, Eibl Martha M, Geyer Matthias, Peterlin B Matija
Department of Medicine, Rosalind Russell Medical Research Center, University of California, San Francisco, CA 94143-0703, USA.
Nat Immunol. 2002 Nov;3(11):1075-81. doi: 10.1038/ni840. Epub 2002 Sep 30.
Bare lymphocyte syndrome (BLS) is an autosomal recessive severe-combined immunodeficiency that can result from mutations in four different transcription factors that regulate the expression of major histocompatibility complex (MHC) class II genes. We have identified here the defective gene that is responsible for the phenotype of the putative fifth BLS complementation group. The mutation was found in the regulatory factor that binds X-box 5 (RFX5) and was mapped to one of the arginines in a DNA-binding surface of this protein. Its wild-type counterpart restored binding of the RFX complex to DNA, transcription of all MHC class II genes and the appearance of these determinants on the surface of BLS cells.
裸淋巴细胞综合征（BLS）是一种常染色体隐性严重联合免疫缺陷病，它可能由四种不同转录因子的突变引起，这些转录因子调控主要组织相容性复合体（MHC）II类基因的表达。我们在此鉴定出了导致假定的第五个BLS互补组表型的缺陷基因。该突变发现于结合X盒5的调节因子（RFX5）中，并且定位于该蛋白质DNA结合表面的一个精氨酸上。其野生型对应物恢复了RFX复合体与DNA的结合、所有MHC II类基因的转录以及这些决定簇在BLS细胞表面的出现。
