Leiden University Scholarly Publications

I.C. de vor; Meulen, P.M. van der; Bekker, V.; Verhard, E.M.; Breuning, M.H.; Harnisch, E.; ... ; Bredius, R.G.M. 2016

Deletion of the entire interferon-gamma receptor 1 gene causing complete deficiency in three related patients

Article / Letter to editor

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We identified the first large genomic deletion of IFNGR1 causing complete IFN-gamma R1 deficiency. Despite the deletion ending very close to the IL22RA2 gene, it does not appear to affect IL22RA2... Show moreWe identified the first large genomic deletion of IFNGR1 causing complete IFN-gamma R1 deficiency. Despite the deletion ending very close to the IL22RA2 gene, it does not appear to affect IL22RA2 transcription and, therefore, may not have any additional clinical consequence. Show less