Göktürk, B.Artaç, H.van Eggermond, M. J.van den Elsen, P.Reisli, İ.2020-03-262020-03-262012Göktürk, B., Artaç, H., van Eggermond, M. J., van den Elsen, P., Reisli, İ., (2012). Type III Bare Lymphocyte Syndrome Associated with a Novel RFXAP Mutation: A Case Report. International Journal of Immunogenetics, 39(4), 362-364. doi: 10.1111/j.1744-313X.2012.01105.x1744-3121https://dx.doi.org/10.1111/j.1744-313X.2012.01105.xhttps://hdl.handle.net/20.500.12395/28597Type III bare lymphocyte syndrome (BLS) is a severe combined immunodeficiency disease caused by the absence of MHC Class II expression associated with low expression of class I molecules. Here, we report a case with type III BLS who lacked RFXAP (Regulatory factor X-associated protein) expression as a result from a novel mutation introducing a premature stopcodon in DE-region at amino acid 73.en10.1111/j.1744-313X.2012.01105.xinfo:eu-repo/semantics/openAccessArticle39436236422390233Q3WOS:000306078300014Q4