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

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

Article / Letter to editor

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 transcription and, therefore, may not have any additional clinical consequence.

• MSMD
• IFN-gamma R1 deficiency
• IFNGR1
• Mycobacterium fortuitum
• EBV
• IL22RA2

• All authors: I.C. de vor; Meulen, P.M. van der; Bekker, V.; Verhard, E.M.; Breuning, M.H.; Harnisch, E.; Tol, M.J.D. van; Wieringa, J.W.; Vosse, E. van de; Bredius, R.G.M.
• Date: 2016-04-01
• Journal: Journal of Clinical Immunology
• Volume: 36
• Issue: 3
• Pages: 195 - 203
• DOI: doi:10.1007/s10875-016-0244-y