Nature Immunology3, 1075 - 1081 (2002)
Published online: 30 September 2002; | doi:10.1038/ni840
Mutation in a winged-helix DNA-binding motif causes atypical bare lymphocyte syndrome
Nada Nekrep1, 2, Nabila Jabrane-Ferrat1, Hermann M. Wolf3, Martha M. Eibl3, Matthias Geyer4
& B. Matija Peterlin1
1
Departments of Medicine, Microbiology and Immunology, Rosalind Russell Medical Research Center, University of California, San Francisco, CA 94143-0703, USA.
2
Institute of Biochemistry, Medical Faculty of the University of Ljubljana, Slovenia.
3
Immunology Outpatient Clinic, Vienna, Austria.
4
Max-Planck Institute for Medical Research, Heidelberg, Germany.
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.
