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Xu, C. MDA5 Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4556 (accessed on 25 September 2026).
Xu C. MDA5 Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4556. Accessed September 25, 2026.
Xu, Camila. "MDA5 Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4556 (accessed September 25, 2026).
Xu, C. (2020, December 24). MDA5 Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4556
Xu, Camila. "MDA5 Deficiency." Encyclopedia. Web. 24 December, 2020.
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MDA5 deficiency is a disorder of the immune system (immunodeficiency) that leads to recurrent, severe infections of the lungs and airways (respiratory tract) beginning in infancy.
genetic conditions
References
- Asgari S, Schlapbach LJ, Anchisi S, Hammer C, Bartha I, Junier T, Mottet-OsmanG, Posfay-Barbe KM, Longchamp D, Stocker M, Cordey S, Kaiser L, Riedel T, KennaT, Long D, Schibler A, Telenti A, Tapparel C, McLaren PJ, Garcin D, Fellay J.Severe viral respiratory infections in children with IFIH1 loss-of-functionmutations. Proc Natl Acad Sci U S A. 2017 Aug 1;114(31):8342-8347. doi:10.1073/pnas.1704259114.
- Berke IC, Yu X, Modis Y, Egelman EH. MDA5 assembles into a polar helicalfilament on dsRNA. Proc Natl Acad Sci U S A. 2012 Nov 6;109(45):18437-41. doi:10.1073/pnas.1212186109.
- Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, Bade S, MurdockHM, Santos CP, Brock LG, Masutani E, Fordjour EY, McElwee JJ, Hughes JD, Nichols DP, Belkadi A, Oler AJ, Happel CS, Matthews HF, Abel L, Collins PL, Subbarao K,Gelfand EW, Ciancanelli MJ, Casanova JL, Su HC. Recurrent rhinovirus infectionsin a child with inherited MDA5 deficiency. J Exp Med. 2017 Jul3;214(7):1949-1972. doi: 10.1084/jem.20161759.
- Loo YM, Gale M Jr. Immune signaling by RIG-I-like receptors. Immunity. 2011May 27;34(5):680-92. doi: 10.1016/j.immuni.2011.05.003. Review.
- Zaki M, Thoenes M, Kawalia A, Nürnberg P, Kaiser R, Heller R, Bolz HJ.Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 NonsenseMutation. Front Genet. 2017 Sep 22;8:130. doi: 10.3389/fgene.2017.00130.
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