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Öğe Type III bare lymphocyte syndrome associated with a novel RFXAP mutation: a case report(Wiley-Blackwell, 2012) Gokturk, B.; Artac, H.; van Eggermond, M. J.; van den Elsen, P.; Reisli, I.Type 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.
