エカルディ・グティエール症候群とは - わかりやすく解説 Weblio辞書

エカルディ・グティエール症候群

出典: フリー百科事典『ウィキペディア（Wikipedia）』 (2023/04/05 07:33 UTC 版)

エカルディ・グティエール症候群^[1]^[2]（英: Aicardi–Goutières syndrome、略称: AGS）は通常早発性の小児炎症性疾患で、脳と皮膚に影響が生じるのが最も一般的である（神経発達症）^[3]^[4]。アイカルディ・グチエール症候群^[5]などの表記もみられる。類似した名称のアイカルディ症候群（英語版）（Aicardi syndrome）とは異なる疾患である。患者の大部分では重大な知的・身体的問題が生じるが、必ず生じるというわけではない。AGSの臨床的特徴は子宮内感染症のものと類似しており、一部の特徴は自己免疫疾患である全身性エリテマトーデスとも重複する^[6]^[7]^[8]。1984年に8つの症例が記載された後^[3]、1992年に'Aicardi–Goutières syndrome'として言及され^[9]、2001年にはイタリア・パヴィーアでAGSに関する最初の国際会議が開催された^[10]。

出典

^ “神経系疾患分野|エカルディ‐グティエール症候群 (Aicardi-Goutières syndrome; AGS)(平成23年度) – 難病情報センター”. www.nanbyou.or.jp. 2020年7月18日閲覧。
^ “エカルディ・グティエール（Aicardi-Goutieres）症候群”. 小児慢性特定疾病情報センター. 2020年7月18日閲覧。
^ ^a ^b ^c ^d ^e “A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis”. Ann Neurol 15 (1): 49–54. (1984). doi:10.1002/ana.410150109. PMID 6712192.
^ ^a ^b Tolmie JL; Shillito P; Hughes-Benzie R; Stephenson JB. (1995). “The Aicardi-Goutieres syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis)”. J Med Genet 32 (11): 881–884. doi:10.1136/jmg.32.11.881. PMC 1051740. PMID 8592332.
^ “KEGG DISEASE: アイカルディ・グチエール症候群”. www.genome.jp. 2020年7月18日閲覧。
^ Aicardi, J; Goutieres, F (2000). “Systemic lupus erythematosus or Aicardi-Goutieres syndrome?”. Neuropediatrics 31 (3): 113. doi:10.1055/s-2000-7533. PMID 10963096.
^ Dale RC; Tang SP; Heckmatt JZ; Tatnall FM (2000). “Familial systemic lupus erythematosus and congenital infection-like syndrome”. Neuropediatrics 31 (3): 155–158. doi:10.1055/s-2000-7492. PMID 10963105.
^ Crow, YJ; Livingston, JH (2008). “Aicardi-Goutieres syndrome: an important Mendelian mimic of congenital infection”. Dev Med Child Neurol 50 (6): 410–416. doi:10.1111/j.1469-8749.2008.02062.x. PMID 18422679.
^ Bonnemann, CG; Meinecke, P (1992). “Encephalopathy of infancy with intracerebral calcification and chronic spinal fluid lymphocytosis - another case of the Aicardi-Goutieres syndrome”. Neuropaediatrics 23 (3): 157–61. doi:10.1055/s-2008-1071333. PMID 1641084.
^ “Proceedings of the International Meeting on Aicardi-Goutieres Syndrome Pavia, Italy, 28-29 May 2001.”. Eur J Paediatr Neurol 6, Suppl A: A1–86. (2002).
^ ^a ^b Crow, YJ (2006). “Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus.”. Nat Genet 38 (8): 917–20. doi:10.1038/ng1845. PMID 16845398.
^ ^a ^b Crow, YJ (2006). “Mutations in the genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection”. Nat Genet 38 (8): 910–6. doi:10.1038/ng1842. PMID 16845400.
^ ^a ^b Rice, GI (2009). “Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response”. Nat Genet 41 (7): 829–32. doi:10.1038/ng.373. PMC 4154505. PMID 19525956.
^ ^a ^b Rice, GI (2012). “Mutations in ADAR1 cause Aicardi-Goutieres syndrome associated with a type 1 interferon signature”. Nat Genet 44 (11): 1243–8. doi:10.1038/ng.2414. PMC 4154508. PMID 23001123.
^ ^a ^b ^c Rice, GI (2014). “Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type 1 interferon signaling.”. Nat Genet 46 (5): 503–509. doi:10.1038/ng.2933. PMC 4004585. PMID 24686847.
^ ^a ^b ^c ^d ^e ^f ^g Rice, GI (2007). “Clinical and molecular phenotype of Aicardi-Goutières syndrome”. Am J Hum Genet 81 (4): 713–25. doi:10.1086/521373. PMC 2227922. PMID 17846997.
^ McEntagart, M; Kamel, H; Lebon, P; King, MD (1998). “Aicardi-Goutieres syndrome: an expanding phenotype”. Neuropaediatrics 29 (3): 163–7. doi:10.1055/s-2007-973555. PMID 9706629.
^ Ostergaard, JR; Christensen, T; Nehen, AM (1999). “A distinct difference in clinical expression of two siblings with Aicardi-Goutieres syndrome”. Neuropaediatrics 30 (1): 38–41. doi:10.1055/s-2007-973455. PMID 10222460.
^ Vogt, J (2013). “Striking intrafamilial phenotypic variability in Aicardi-Goutieres syndrome associated with the recurrent Asian founder mutation in RNASEH2C”. Am J Med Genet 161A (2): 338–42. doi:10.1002/ajmg.a.35712. PMID 23322642.
^ Crow, YJ (2004). “Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutieres syndrome”. Am J Med Genet 129A (3): 303–7. doi:10.1002/ajmg.a.30250. PMID 15326633.
^ Figiel, Małgorzata; Chon, Hyongi; Cerritelli, Susana M.; Cybulska, Magdalena; Crouch, Robert J.; Nowotny, Marcin (2011-03-25). “The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects”. The Journal of Biological Chemistry 286 (12): 10540–10550. doi:10.1074/jbc.M110.181974. ISSN 1083-351X. PMC 3060507. PMID 21177858.
^ O'Driscoll M. C.; Daly S. B.; Urquhart J. E.; Black G.; Pilz D. T.; Brockmann K.; Crow Y. J. (2010). “Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria”. The American Journal of Human Genetics 87 (3): 354–364. doi:10.1016/j.ajhg.2010.07.012. PMC 2933344. PMID 20727516.
^ “OMIM Entry - # 251290 - PSEUDO-TORCH SYNDROME 1; PTORCH1”. www.omim.org. 2020年7月25日閲覧。
^ Crow, Yanick J. (2016-11-22). “Aicardi-Goutières Syndrome”. In Pagon, Roberta A.. GeneReviews. Seattle (WA): University of Washington, Seattle. PMID 20301648
^ Crow, Yanick; Livingston, John (2016-12-01). “Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi–Goutières Syndrome and Beyond” (英語). Neuropediatrics 47 (6): 355–360. doi:10.1055/s-0036-1592307. ISSN 0174-304X. PMID 27643693.
^ ^a ^b ^c ^d Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley et al. (2015-02-01). “Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1” (英語). American Journal of Medical Genetics Part A 167 (2): 296–312. doi:10.1002/ajmg.a.36887. ISSN 1552-4833. PMC 4382202. PMID 25604658.
^ Rice, Gillian; Patrick, Teresa; Parmar, Rekha; Taylor, Claire F.; Aeby, Alec; Aicardi, Jean; Artuch, Rafael; Montalto, Simon Attard et al. (2007). “Clinical and Molecular Phenotype of Aicardi-Goutières Syndrome”. The American Journal of Human Genetics 81 (4): 713–725. doi:10.1086/521373. PMC 2227922. PMID 17846997.
^ Isaacs, A; Lindenmann, J (1957). “Virus interference. I. The interferon”. Proc R Soc Lond B Biol Sci 147 (927): 258–67. Bibcode: 1957RSPSB.147..258I. doi:10.1098/rspb.1957.0048. PMID 13465720.
^ Isaacs, A; Lindenmann, J; Valentine, RC (1957). “Virus interference. II. Some properties of interferon”. Proc R Soc Lond B Biol Sci 147 (927): 268–73. Bibcode: 1957RSPSB.147..268I. doi:10.1098/rspb.1957.0049. PMID 13465721.
^ Gresser, I (1980). “Interferon-‐induced disease in mice and rats”. Ann N Y Acad Sci 350 (1): 12–20. Bibcode: 1980NYASA.350...12G. doi:10.1111/j.1749-6632.1980.tb20602.x. PMID 6165266.
^ Stetson, DB; Ko, JS; Heidmann, T; Medzhitov, R (2008). “Trex1 prevents cell-intrinsic initiation of autoimmunity”. Cell 134 (4): 587–98. doi:10.1016/j.cell.2008.06.032. PMC 2626626. PMID 18724932.
^ Crow, YJ; Rehwinkel, J (2009). “Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity”. Hum Mol Genet 18 (R2): R130–6. doi:10.1093/hmg/ddp293. PMC 2758706. PMID 19808788.
^ ^a ^b ^c Stetson, DB (2012). “Endogenous retroelements and autoimmune disease”. Curr Opin Immunol 24 (6): 692–7. doi:10.1016/j.coi.2012.09.007. PMC 4005353. PMID 23062469.
^ Yan, Nan; Ashton D. Regalado-Magdos; Bart Stiggelbout; Min Ae Lee-Kirsch; Judy Lieberman Yu (Nov 2010). “The cytosolic exonuclease TREX1 inhibits the innate immune response to HIV-1”. Nature Immunology 11 (11): 1005–1013. doi:10.1038/ni.1941. PMC 2958248. PMID 20871604.
^ Zhao, Ke; Juan Du; Xue Han; John L Goodier; Peng Li; Xiaohong Zhou; Wei Wei; Sean L Evans et al. (Sep 26, 2013). “Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutieres syndrome-related SAMHD1”. Cell Reports 4 (6): 1108–1115. doi:10.1016/j.celrep.2013.08.019. PMC 3988314. PMID 24035396.
^ ^a ^b ^c Rice, GI (2013). “Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR1: a case-control study”. Lancet Neurol 12 (12): 1159–69. doi:10.1016/S1474-4422(13)70258-8. PMC 4349523. PMID 24183309.
^ ^a ^b Blau, N (2003). “Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype”. Neurology 61 (5): 642–7. doi:10.1212/01.wnl.0000082726.08631.e7. PMID 12963755.
^ Uggetti, C (2009). “Aicardi-Goutieres syndrome: neuroradiologic findings and follow-ups”. AJNR Am J Neuroradiol 30 (10): 1971–6. doi:10.3174/ajnr.a1694. PMID 19628626.
^ Livingston, JH; Stivaros, S; van der Knaap, MS; Crow, YJ (2013). “Recognizable phenotypes associated with intracranial calcification”. Dev Med Child Neurol 55 (1): 46–57. doi:10.1111/j.1469-8749.2012.04437.x. PMID 23121296.
^ Lebon, P (1988). “Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy”. J Neurol Sci 84 (2–3): 201–8. doi:10.1016/0022-510x(88)90125-6. PMID 2837539.
^ Black, DN (1988). “Encephalitis among Cree children in northern Quebec”. Ann Neurol 24 (4): 483–9. doi:10.1002/ana.410240402. PMID 3239950.
^ Crow, YJ (2003). “Cree encephalitis is allelic with Aicardi-Goutières syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism”. J Med Genet 40 (3): 183–7. doi:10.1136/jmg.40.3.183. PMC 1735395. PMID 12624136.

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