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- [2] Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH1Journal of Clinical Immunology, 2023, 43 : 1143 - 1146Yoshiko KidaTakehiko DoiYusuke ImanakaVishwa Jeet AmatyaNobuaki ShimeSatoshi Okada
- [3] Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH1JOURNAL OF CLINICAL IMMUNOLOGY, 2023, 43 (06) : 1143 - 1146Kida, YoshikoDoi, TakehikoImanaka, YusukeAmatya, Vishwa JeetShime, NobuakiOkada, Satoshi
- [4] Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutieres and Singleton-Merten syndromesBRITISH JOURNAL OF DERMATOLOGY, 2015, 173 (06) : 1505 - 1513Bursztejn, A. -C.Briggs, T. A.Duany, Y. del ToroAnderson, B. H.O'Sullivan, J.Williams, S. G.Bodemer, C.Fraitag, S.Gebhard, F.Leheup, B.Lemelle, I.Oojageer, A.Raffo, E.Schmitt, E.Rice, G. I.Hur, S.Crow, Y. J.
- [5] A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten SyndromeAMERICAN JOURNAL OF HUMAN GENETICS, 2015, 96 (02) : 275 - 282Rutsch, FrankMacDougall, MaryLu, ChangmingBuers, InsaMamaeva, OlgaNitschke, YvonneRice, Gillian I.Erlandsen, HeidiKehl, Hans GerdThiele, HolgerNuernberg, PeterHoehne, WolfgangCrow, Yanick J.Feigenbaum, AnnetteHennekam, Raoul C.
- [6] Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutieres syndromeCLINICAL GENETICS, 2014, 86 (05) : 473 - 474Diamond, J.
- [7] Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingNATURE GENETICS, 2014, 46 (05) : 503 - 509Rice, Gillian I.Duany, Yoandris del ToroJenkinson, Emma M.Forte, Gabriella M. A.Anderson, Beverley H.Ariaudo, GiadaBader-Meunier, BrigitteBaildam, Eileen M.Battini, RobertaBeresford, Michael W.Casarano, ManuelaChouchane, MondherCimaz, RolandoCollins, Abigail E.Cordeiro, Nuno J. V.Dale, Russell C.Davidson, Joyce E.De Waele, LiesbethDesguerre, IsabelleFaivre, LaurenceFazzi, ElisaIsidor, BertrandLagae, LievenLatchman, Andrew R.Lebon, PierreLi, ChumeiLivingston, John H.Lourenco, Charles M.Mancardi, Maria MargheritaMasurel-Paulet, AliceMcInnes, Lain B.Menezes, Manoj P.Mignot, CyrilO'Sullivan, JamesOrcesi, SimonaPicco, Paolo P.Riva, EnricaRobinson, Robert A.Rodriguez, DianaSalvatici, ElisabettaScott, ChristiaanSzybowska, MartaTolmie, John L.Vanderver, AdelineVanhulle, CatherineVieira, Jose PedroWebb, KateWhitney, Robyn N.Williams, Simon G.Wolfe, Lynne A.
- [8] Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signalingNature Genetics, 2014, 46 : 503 - 509Gillian I RiceYoandris del Toro DuanyEmma M JenkinsonGabriella M A ForteBeverley H AndersonGiada AriaudoBrigitte Bader-MeunierEileen M BaildamRoberta BattiniMichael W BeresfordManuela CasaranoMondher ChouchaneRolando CimazAbigail E CollinsNuno J V CordeiroRussell C DaleJoyce E DavidsonLiesbeth De WaeleIsabelle DesguerreLaurence FaivreElisa FazziBertrand IsidorLieven LagaeAndrew R LatchmanPierre LebonChumei LiJohn H LivingstonCharles M LourençoMaria Margherita MancardiAlice Masurel-PauletIain B McInnesManoj P MenezesCyril MignotJames O'SullivanSimona OrcesiPaolo P PiccoEnrica RivaRobert A RobinsonDiana RodriguezElisabetta SalvaticiChristiaan ScottMarta SzybowskaJohn L TolmieAdeline VanderverCatherine VanhulleJose Pedro VieiraKate WebbRobyn N WhitneySimon G WilliamsLynne A Wolfe
- [9] Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi-Goutieres syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiencyFRONTIERS IN IMMUNOLOGY, 2023, 13Zeleznik, MojcaSoltirovska Salamon, AnetaDebeljak, MarusaGoropevsek, AlesSustar, NatasaKljucevsek, DamjanaIhan, AlojzAvcin, Tadej
- [10] IFIH1 variants are associated with generalised epilepsy preceded by febrile seizuresJOURNAL OF MEDICAL GENETICS, 2024, 61 (09) : 895 - 903Song, WangBian, Wen-JunLi, HuaGuo, Qing-HuiWang, JieTang, BinZhang, Jia-YuanWei, WeiLiu, Xiao-RongLiao, Wei-PingLi, BinHe, Na