Gokturk, B.Artac, H.van Eggermond, M. J.van den Elsen, P.Reisli, I.2024-02-232024-02-2320121744-3121https://doi.org/10.1111/j.1744-313X.2012.01105.xhttps://hdl.handle.net/20.500.12452/13902Type 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.eninfo:eu-repo/semantics/closedAccess[Keyword Not Available]Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case reportArticle394362364223902332-s2.0-84863579394Q3WOS:000306078300014Q410.1111/j.1744-313X.2012.01105.x