Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome

被引：25
作者：
Nekrep, N
Jabrane-Ferrat, N
Wolf, HM
Eibl, MM
Geyer, M
Peterlin, BM [1 ]
机构：
[1] Univ Calif San Francisco, Dept Med, Rosalind Russell Med Res Ctr, San Francisco, CA 94143 USA
[2] Univ Calif San Francisco, Dept Microbiol, Rosalind Russell Med Res Ctr, San Francisco, CA 94143 USA
[3] Univ Calif San Francisco, Dept Immunol, Rosalind Russell Med Res Ctr, San Francisco, CA 94143 USA
[4] Univ Ljubljana, Fac Med, Inst Biochem, Ljubljana 61000, Slovenia
[5] Immunol Outpatient Clin, Vienna, Austria
[6] Max Planck Inst Med Res, Heidelberg, Germany
来源：
NATURE IMMUNOLOGY | 2002年 / 3卷 / 11期
关键词：
D O I：
10.1038/ni840
中图分类号：
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号：
100102 ;
摘要：
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 (RFXS) 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.
引用
收藏
页码：1075 / 1081
页数：7
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