Video Upload Options

References

1. 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.
2. 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.
3. Bursztejn AC, Briggs TA, del Toro Duany Y, Anderson BH, O'Sullivan J, WilliamsSG, Bodemer C, Fraitag S, Gebhard F, Leheup B, Lemelle I, Oojageer A, Raffo E,Schmitt E, Rice GI, Hur S, Crow YJ. Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap betweenAicardi-Goutières and Singleton-Merten syndromes. Br J Dermatol. 2015Dec;173(6):1505-13. doi: 10.1111/bjd.14073.
4. 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.
5. 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.
6. Looney BM, Xia CQ, Concannon P, Ostrov DA, Clare-Salzler MJ. Effects of type 1diabetes-associated IFIH1 polymorphisms on MDA5 function and expression. CurrDiab Rep. 2015 Nov;15(11):96. doi: 10.1007/s11892-015-0656-8. Review.
7. Oda H, Nakagawa K, Abe J, Awaya T, Funabiki M, Hijikata A, Nishikomori R,Funatsuka M, Ohshima Y, Sugawara Y, Yasumi T, Kato H, Shirai T, Ohara O, FujitaT, Heike T. Aicardi-Goutières syndrome is caused by IFIH1 mutations. Am J HumGenet. 2014 Jul 3;95(1):121-5. doi: 10.1016/j.ajhg.2014.06.007.
8. Rice GI, Del Toro Duany Y, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G,Bader-Meunier B, Baildam EM, Battini R, Beresford MW, Casarano M, Chouchane M,Cimaz R, Collins AE, Cordeiro NJ, Dale RC, Davidson JE, De Waele L, Desguerre I, Faivre L, Fazzi E, Isidor B, Lagae L, Latchman AR, Lebon P, Li C, Livingston JH, Lourenço CM, Mancardi MM, Masurel-Paulet A, McInnes IB, Menezes MP, Mignot C,O'Sullivan J, Orcesi S, Picco PP, Riva E, Robinson RA, Rodriguez D, Salvatici E, Scott C, Szybowska M, Tolmie JL, Vanderver A, Vanhulle C, Vieira JP, Webb K,Whitney RN, Williams SG, Wolfe LA, Zuberi SM, Hur S, Crow YJ. Gain-of-functionmutations in IFIH1 cause a spectrum of human disease phenotypes associated withupregulated type I interferon signaling. Nat Genet. 2014 May;46(5):503-509. doi: 10.1038/ng.2933.
9. Rutsch F, MacDougall M, Lu C, Buers I, Mamaeva O, Nitschke Y, Rice GI,Erlandsen H, Kehl HG, Thiele H, Nürnberg P, Höhne W, Crow YJ, Feigenbaum A,Hennekam RC. A specific IFIH1 gain-of-function mutation causes Singleton-Mertensyndrome. Am J Hum Genet. 2015 Feb 5;96(2):275-82. doi:10.1016/j.ajhg.2014.12.014.
10. Van Eyck L, De Somer L, Pombal D, Bornschein S, Frans G, Humblet-Baron S,Moens L, de Zegher F, Bossuyt X, Wouters C, Liston A. Brief Report: IFIH1Mutation Causes Systemic Lupus Erythematosus With Selective IgA Deficiency.Arthritis Rheumatol. 2015 Jun;67(6):1592-7. doi: 10.1002/art.39110.