| 1 | IFNGR1, IMD27A
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| IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.
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| van de Vosse E, van Dissel JT.
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| Hum Mutat um Mutat. 2017 Jul 25. doi: 10.1002/humu.23302. [Epub ahead of print]
2017
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| 2 | IFNGR1, IMD27A
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| Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients.
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| de Vor IC, van der Meulen PM, Bekker V, Verhard EM, Breuning MH, Harnisch E, van Tol MJ, Wieringa JW, van de Vosse E, Bredius RG.
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| J Clin Immunol 36(3):195-203. doi: 10.1007/s10875-016-0244-y. Epub 2016 Mar 1.
2016
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| 3 | IFNGR1, IMD27A
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| A novel mutation in IFN-γ receptor 1 presenting as multisystem Mycobacterium intracellulare infection.
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| Rose DM, Atkins J, Holland SM, Infante AJ.
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| J Allergy Clin Immunol 133(2):591-2. doi: 10.1016/j.jaci.2013.07.054. Epub 2013 Nov 9. No abstract available.
2014
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| 4 | IMD27A
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| Clinical features of dominant and recessive interferon gamma receptor 1 deficiencies.
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| Dorman SE, Picard C, Lammas D, Heyne K, van Dissel JT, Baretto R, Rosenzweig SD, Newport M, Levin M, Roesler J, Kumararatne D, Casanova JL, Holland SM.
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| Lancet 364(9451):2113-21.
2004
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| 5 | IFNGR1, IMD27A
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| A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection.
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| Newport MJ, Huxley CM, Huston S, Hawrylowicz CM, Oostra BA, Williamson R, Levin M.
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| N Engl J Med 335(26):1941-9.
1996
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