Aicardi-Goutieres Sendromu

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Crow YJ, Chase DS, Lowenstein Schmidt J, Szynkiewicz M, Forte GM, Gornall HL, Oojageer A, Anderson B, Pizzino A, Helman G, Abdel‐Hamid MS. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. American journal of medical genetics Part A. 2015 Feb;167(2):296-312.

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Crow YJ, Stetson DB. The type I interferonopathies: 10 years on. Nature Reviews Immunology. 2022 Aug;22(8):471-83.

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Livingston JH, Crow YJ. Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières syndrome and beyond. Neuropediatrics. 2016 Dec;47(06):355-60.

Crow YJ, Shetty J, Livingston JH. Treatments in aicardi–goutières syndrome. Developmental Medicine & Child Neurology. 2020 Jan;62(1):42-7.

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Crow YJ, Zaki MS, Abdel-Hamid MS, Abdel-Salam G, Boespflug-Tanguy O, Cordeiro NJ, Gleeson JG, Gowrinathan NR, Laugel V, Renaldo F, Rodriguez D. Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. Neuropediatrics. 2014 Dec;45(06):386-91.

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Dale RC, Gornall H, Singh‐Grewal D, Alcausin M, Rice GI, Crow YJ. Familial Aicardi–Goutieres syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. American journal of medical genetics Part A. 2010 Apr;152(4):938-42.

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Vanderver A, Prust M, Kadom N, Demarest S, Crow YJ, Helman G, Orcesi S, Piana RL, Uggetti C, Wang J, Gordisch-Dressman H. Early-onset Aicardi-Goutieres syndrome: magnetic resonance imaging (MRI) pattern recognition. Journal of child neurology. 2015 Sep;30(10):1343-8.

Uggetti C, La Piana R, Orcesi S, Egitto MG, Crow YJ, Fazzi E. Aicardi-Goutieres syndrome: neuroradiologic findings and follow-up. American Journal of Neuroradiology. 2009 Nov 1;30(10):1971-6.

La Piana R, Uggetti C, Roncarolo F, Vanderver A, Olivieri I, Tonduti D, Helman G, Balottin U, Fazzi E, Crow YJ, Livingston J. Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome. Neurology. 2016 Jan 5;86(1):28-35.

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Livingston JH, Stivaros S, Van Der Knaap MS, Crow YJ. Recognizable phenotypes associated with intracranial calcification. Developmental Medicine & Child Neurology. 2013 Jan;55(1):46-57.

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Livingston JH, Graziano C, Pysden K, Crow YJ, Mordekar SR, Moroni I, Uziel G. Intracranial calcification in early infantile Krabbe disease: nothing new under the sun. Developmental Medicine & Child Neurology. 2012 Apr;54(4):376-9.

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Wang W, Wang W, He TY, Zou LP, Li WD, Yu ZX, Ma MS, Yang J, Song HM. Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China. World Journal of Pediatrics. 2022 Jul;18(7):490-7.

Ramantani G, Maillard LG, Bast T, Husain RA, Niggemann P, Kohlhase J, Hertzberg C, Ungerath K, Innes MA, Walkenhorst H, Bevot A. Epilepsy in aicardi–goutières syndrome. european journal of paediatric neurology. 2014 Jan 1;18(1):30-7.

De Giorgis V, Varesio C, Viri M, Giordano L, La Piana R, Tonduti D, Roncarolo F, Masnada S, Pichiecchio A, Veggiotti P, Fazzi E. The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings. Seizure. 2021 Mar 1;86:197-209.

Abdel-Salam GM, El-Kamah GY, Rice GI, El-Darouti M, Gornall H, Szynkiewicz M, Aymard F, Zaki MS, Abdel-Aleem AK, Lebon P, Crow YJ. Chilblains as a diagnostic sign of aicardi-goutieres syndrome. Neuropediatrics. 2010 Feb;41(01):18-23.

Kolivras A, Aeby A, Crow YJ, Rice GI, Sass U, André J. Cutaneous histopathological findings of Aicardi–Goutières syndrome, overlap with chilblain lupus. Journal of cutaneous pathology. 2008 Aug;35(8):774-8.

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Wu D, Fang L, Huang T, Ying S. Case report: Aicardi-Goutières syndrome caused by novel TREX1 variants. Frontiers in Pediatrics. 2021 Apr 28;9:634281.

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Zheng S, Lee PY, Wang J, Wang S, Huang Q, Huang Y, Liu Y, Zhou Q, Li T. Interstitial lung disease and psoriasis in a child with Aicardi-Goutieres syndrome. Frontiers in Immunology. 2020 May 20;11:985.

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