RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency

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Abstract

The bare lymphocyte syndrome (BLS) is characterized by the absence of MHC class II transcription and humoral- and cellular-mediated immune responses to foreign antigens. Three of the four BLS genetic complementation groups have defects in the activity of the MHC class II transcription factor RFX. We have purified the RFX complex and sequenced its three subunits. The sequence of the smallest subunit describes a novel gene, termed RFX-B. RFX-B complements the predominant BLS complementation group (group B) and was found to be mutant in cell lines from this BLS group. The protein has no known DNA- binding domain but does contain three ankyrin repeats that are likely to be important in protein-protein interactions.

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Nagarajan, U. M., Louis-Plence, P., DeSandro, A., Nilsen, R., Bushey, A., & Boss, J. M. (1999). RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency. Immunity, 10(2), 153–162. https://doi.org/10.1016/S1074-7613(00)80016-3

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