Bibliografia

Babbitt,Tang T, Dobbs J, Berk R. Idiopathic familial cerebrovascular ferrocalcinosis (Fahr’s disease) and review of differential diagnosis of intracranial calcification in children. Am. J. Roent Rad Ther Nucl Med 1969; 105: 352-358.

Gresser I, Tovey MG, Maury C, Bandu MT. Role of interferon in the pathogenesis of virus diseases in mice as demonstrated by the use of anti-interferon serum II. Studies with herpes simplex, moloney sarcoma, vesicular stomatitis, Newcastle disease and influenza viruses. J Exp Med 1976;144: 1316-1323.

Yancey CL, Doughty RA, Athreya BH. Central nervous system involvement in childhood systemic lupus erythematosus. Arthritis Rheum 1981; 24: 1389-1395.

Aicardi J, Goutières F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 1984; 15: 49-54.

Troost D, van Rossum A, Veiga Pires J, Willemse J. Cerebral calcifications and cerebellar hypoplasia in two children: clinical, radiologic and neuoropathological studies; a separate neurodevelopmental entity. Neuropediatrics 1984; 15: 102-109.

Dussaix E, Lebon P, Ponsot G, et al. Intrathecal synthesis of different alpha-interferons in patients with various neurological diseases. Acta Neurol Scand 1985; 71: 504-509.

Burn J, Wickramasinghe HT, Harding B, Baraister M. A syndrome with intracranial calcification and microcephaly in two sibs, resembling intrauterine infection. Clin Genet 1986; 30:112-116.

Diament AJ, Machado LR, Cypel S, Ramos JL. Syndrome of calcifications of basal ganglia, leukodystrophy and chronic lymphomonocytic pleocytosis of the cerebrospinal fluid: report of a case. Arq Neuropsiquiatr 1986; 44: 185-190.

Giroud M, Gouyon TB, Chaumet F, et al. A case of progressive familial encephalopathy in infancy with calcification of the basal ganglia and chronic cerebrospinal fluid lymphocitosis. Childs Nerv Syst 1986; 2: 47-48.

Mehta L, Trounce JO, Moore JR, Young ID. Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis. J Med Genet 1986; 23: 157-160.

Black DN, Watters GV, Andermann E, et al . Encephalitis among Cree children in Northern Quebec . Ann Neurol 1988; 24: 483-489.

Lebon P, Badoual J, Ponsot G, et al. Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy. J Neurol Sci 1988; 84: 201-208.

McEntagart M, Kamel H, Lebon P, King MD. Aicardi-Goutières syndrome: an expanding phenotype. Neuropediatrics 1998; 29: 163-16.

Razavi-Encha F, Larroche JC, Gaillard D. Infantile familial encephalopathy with cerebral calcifications and leukodystrophy. Neuropediatrics 1988; 19: 72-79.

Billard C, Dulac O, Bouloche J, et al. Encephalopathy with calcifications of the basal ganglia in children. A reappraisal of Fahr’s syndrome with respect to 14 new cases. Neuropediatrics 1989; 20: 12-19.

Luu J, Bockus D, Remington F, Bean MA, Hammar SP. Tubuloreticular structures and cylindrical confronting cisternae: a review. Human Pathol 1989; 20:617-627.

Boltshauser E, Steinlin M, Boesch C, et al. Magnetic resonance imaging in infantile encephalopathy with cerebral calcifications and leukodystrophy. Neuropediatrics 1991; 22: 33-35.

Bönnemann C, Meinecke P, Reich H. Encephalopathy with intracerebral calcification, white matter lesions, growth hormone deficiency, microcephaly and retinal degeneration. Two siblings confirming a probably distinct entity. J Med Genet 1991; 28: 708-711.

Meyers CA, Scheibel RS, Forman AD. Persistent neurotoxicity of systemically administered interferon-alpha. Neurology 1991; 41: 672-676.

Bönnemann CG, Meinecke P. Encephalopathy of infancy with intracerebral calcification and chronic spinal fluid lymphocytosis – another case of the Aicardi-Goutières syndrome. Neuropediatrics 1992; 23: 157-161.

Reardon W, Hockey A, Silberstein P, et al. Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease. Am J. Med Gen 1994; 52: 58-65.

Sandberg K, Eloranta ML, Campbell IL. Expression of alpha/beta Interferons (IFN alpha/beta) and their relationship to INF-alpha/beta-induced genes in lymphocytic choriomeningitis. J Virol 1994; 68: 7358-7366.

Tolmie JL, Shillito P, Hughes-Benzie R, Stephenson JB. The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis). J Med Genet 1995; 32: 881-884.

Bachmeyer C, Farge D, Gluckman E, Miclea JM, Aractingi S. Raynold’s phenomenon and digital necrosis induced by interferon-alpha. British J Dermatol 1996; 135: 481-483.

Cabañas F, Pellicer A, Valverde E, et al. Central Nervous System vasculopathy in neonatal lupus erythematosus. Pediatr Neurol 1996; 15:124-126.

Verrips A, Hiel JA, Gabreels FJ, et al. The Aicardi-Goutieres syndrome: variable clinical expression in two siblings. Pediatr Neurol 1997; 16: 323-325.

Akwa Y, Hassett DE, Eloranta ML, et al. Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration. J Immunol 1998; 161: 5016-5026.

Duffey P, Coulthard A, Burn DJ. Late observation of the Goutieres-Aicardi syndrome. Mov Disord 1998;13:179-182.

Goutières F, Aicardi J, Barth PG, Lebon P. Aicardi-Goutières syndrome: an update and results of interferon-alpha studies. Ann Neurol 1998; 44: 900-90.

Grimley P, Ray S, Kostianovsky M et al. Tubuloreticular reorganization of cytomembranes in cells treated with human alpha interferons - a review. Scanning Microscopy 1998; 2:2141-2151.

Kato M, Ishii R, Honma A, et al. Brainstem lesion in Aicardi-Goutieres syndrome. Pediatr Neurol 1998; 19: 145-147.

Kumar D, Rittey C, Cameron AH, Variend S. Recognizable inherited syndrome syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutières. Am J Med Genet 1998;75:508-515.

Barth PG, WalterA: Aicardi-Goutieres syndrome:a genetic microangiopathy? Acta Neuropathol 1999; 98: 212-216.

Campbell IL, Krucker T, Steffensen S, et al. Structural and functional neuropathology in transgenic mice with CNS expression of IFN-a. Brain Res 1999; 835:46-61.

Faure S, Bordelais I, Marquette C, et al. Aicardi-Goutieres syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease? Clin Genet 1999; 56:149-153.

Ostergaard JR, Christensen T, Nehen AM. A distinct difference in clinical expression of two siblings with Aicardi-Goutieres syndrome. Neuropediatrics 1999; 30: 38-41.

Aicardi J, Goutières F. Systemic lupus erythematosus or Aicardi-Goutières syndrome? Neuropediatrics 2000; 31: 113.

Crow YJ, Jackson AP, Roberts E, et al. Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21. Am J Hum Genet 2000; 67: 213-221

Dale RC, Tang SP, Heckmatt JZ, Tatnal FM. Familial systemic lupus erythematosus and congenital infection-like syndrome. Neuropediatrics 2000; 31: 155-158.

Mbuila C, Mangyanda MK, Nzenzo H, et al. Meningitis and interferon-alpha in the cereprospinal fluid. What diagnostic and therapeutic approach? A case report . Arch Pediatr 2000; 7 : 1197-1200.

Koul R, Chacko A, Joshi S, Sankhla D. Aicardi-Goutieres syndrome in siblings. J Child Neurol 2001; 16: 759-61.

Polizzi A, Pavone P, Parano E, et al. Lack of progression of brain atrophy in Aicardi Goutières syndrome. Pediatr Neurol 2001; 24: 300-302.

Vivarelli R, Grosso S, Cioni M et al. Pseudo-TORCH syndrome or Baraister-Reardon syndrome: diagnostic criteria. Brain Dev 2001; 23: 18-23.

Aicardi J. Aicardi-Goutieres syndrome: special type early-onset encephalopathy. Eur J Paediatr Neurol 2002; 6 suppl A: A1-A7.

Lanzi G, Fazzi E, D’Arrigo S. Aicardi-Goutieres syndrome: a description of 21 new casesand comparison with literature. Eur J Paediatr Neurol 2002; 6 suppl A:A9-A2.

Barth PG. The neuropathology of Aicardi-Goutieres syndrome. Eur J Paediatr Neurol 2002; 6 suppl A: A27-A31.

Kuijpers TW. Aicardi-Goutieres syndrome: immunophenotyping in relation to interferon alpha. Eur J Paediatr Neurol 2002; 6 suppl A: A59-A64.

Lebon P, Meritet JF, Krivine A, Rozenberg F. Interferon and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol 2002; 6 suppl A: A47-A53.

Crow Y. The genetics of Aicardi-Goutieres syndrome. Eur J Paediatr Neurol 2002; 6 suppl.A: A33-A35.

De Andrea M, Ravera R, Gioia D,Gariglio M. The interferon system: an overview. Eur J Paediatr Neurol 2002; 6 suppl. A: A41-A46.

Stephenson JB. Aicardi-Goutieres syndrome. Observation of the Glasgow school. Eur J Paediatr Neurol 2002; 6 suppl A: A67-A70.

Fischbach M Rare genetic diseases – New opportunities and challenges through biotechnological progress and scientific knowledge Eur J Paediatr Neurol 2002; 6 suppl A: A71-A75.

Di Ciommo V, Russo P, Ravà L, Caprino L. Interferon alpha in the treatment of chronic hepatitis C in children: a metanalysis. J Viral Hepat 2003; 10: 210-214.

Crow YJ, Black DN, Ali M, et al. Cree encephalitis is allelic with Aicardi-Goutieres syndrome: implication for the pathogenesis of disorders of interferon alpha metabolism. . J Med Genet 2003; 40: 183-187.

Blau N, Bonafè L, Krägeloh-Mann, et al. Cerebrospinal fluid pterins and folates in Aicardi- Goutieres syndrome. Neurology 2003; 61: 642-647.

 

Solomon T, Dung NM, Wills B, et al. Interferon alfa-2a in japanese encephalitis: a randomised double-blind placebo-controlled trial. Lancet 2003; 361: 821-826.

 

Crow YJ, Massey RF, Innes JR, et al. Congenital glaucome and brain stem atrophy as features of Aicardi-Goutières syndrome. Am J Med Genet 2004; 129A:303-307.

 

Abdel-Salam GMH, Zaki MS, Lebon P, Meguid NA. Aicardi-Goutières Syndrome: clinical and neuroradiological findings of 10 new cases. Acta Paediatr 2004; 93: 929-936.

 

Ostergaard JR, Christensen T. Aicardi-Goutières syndrome : neuroradiological findings after nine years of follow-up. Eur J Paediatr Neurol 2004; 8(5): 243-6.

 

Robertson NJ, Stafler P, Battini R et al. Brain lactic alkalosis in Aicardi-Goutières syndrome. Neuropediatrics 2004; 35 :20-26. 

 

Ramaekers VT, Blau N. Cerebral folate deficiency. Dev Med Child Neurol. 2004 Dec;46(12):843-51.

 

Le Garrec M, Doret M, Pasquier JC, Till M, Lebon P, Buenerd A, Escalon J, Gaucherand P. Prenatal diagnosis of Aicardi-Goutieres syndrome. Prenat Diagn. 2005 Jan;25(1):28-30.

 

Rasmussen M, Skullerud K, Bakke SJ, Lebon P, Jahnsen FL. Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutieres syndrome--report of two sisters. Neuropediatrics. 2005 Feb;36(1):40-4.

 

Blanco-Barca MO, Curros Novo MC, Alvarez Moreno A, Alonso Martin A, Eiris-Punal JM, Castro-Gago M. Aicardi-Goutieres syndrome: report of two new cases, An Pediatr (Barc). 2005 Feb;62(2):166-70. Spanish.

 

Sanchis A, Cervero L, Bataller A, Tortajada JL, Huguet J, Crow YJ, Ali M, Higuet LJ, Martinez-Frias ML. Genetic syndromes mimic congenital infections. J Pediatr. 2005 May;146(5):701-5.

Dimova PS, Mikova O;Case of Aicardi-Goutieres syndrome with long-lasting increase of cerebrospinal interferon-alpha. J Child Neurol. 2005 Nov;20(11):915-9.

 

De Laet C., Goyens P. Christophe C., Ferster A., Mascart F., Dan B:; Phenotypic overlap between infantile systemic lupus erythematosus and Aicardi-Goutieres syndrome.
Neuropediatrics. 2005 Dec;36(6):399-402.

 

Desanges C., Lebon P., Bauman C., Vuillard E., Garel C., Cordesse A., Oury JF., Crow Y., Luton D.; Elevated interferon-alpha in fetal blood in the prenatal diagnosis of Aicardi-Goutieres syndrome.
Fetal Diagn Ther. 2006;21(1):153-5.

 

Barnerias C, Giurgea I, Hertz-Pannier L, Bahi-Buisson N, Boddaert N, Rustin P, Rotig A, Desguerre I, Munnich A, de Lonlay P. Respiratory chain deficiency in a female with Aicardi-Goutieres syndrome. Dev Med Child Neurol. 2006 Mar;48(3):227-30.

 

Kothare SV, Pungavkar SA, Patkar DP, Sainani NI, Naik MH, Gadani S. Regression of white matter hypodensities with age in Aicardi-Goutieres syndrome: a case report. Childs Nerv Syst. 2006 Nov;22(11):1503-6.

 

Castro-Gago M, Gomez-Lado C, Eiris-Punal J. Respiratory chain deficiency in Aicardi-Goutieres syndrome. Dev Med Child Neurol. 2006 Aug;48(8):701.

.

de Silva U, Choudhury S, Bailey SL, Harvey S, Perrino FW, Hollis T. The Crystal Structure of TREX1 Explains the 3' Nucleotide Specificity and Reveals a Polyproline II Helix for Protein Partnering. J Biol Chem. 2007 Apr 6;282(14):10537-43.

Brucet M, Querol-Audi J, Serra M, Ramirez-Espain X, Bertlik K, Ruiz L, Lloberas J, Macias MJ, Fita I, Celada A. Structure of the dimeric exonuclease TREX1 in complex with DNA displays a proline-rich binding site for WW domains.J Biol Chem. 2007 Mar 13.

Rice G, Newman WG, Dean J, Patrick T, Parmar R, Flintoff K, Robins P, Harvey S, Hollis T, O'Hara A, Herrick AL, Bowden AP, Perrino FW, Lindahl T, Barnes DE, Crow YJ. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet. 2007 Apr;80(4):811-5

van Heteren JT, van der Knaap MS, Poll The BW, Kuijpers TW. Plasmacytoid dendritic cells and interferon-alpha in Aicardi-Goutières syndrome. Neuropediatrics. 2007 Dec;38(6):269-75.

Kavanagh D, Spitzer D, Kothari PH, Shaikh A, Liszewski MK, Richards A, Atkinson JP. New roles for the major human 3'-5' exonuclease TREX1 in human disease. Cell Cycle. 2008 Apr 16;7(12).

Izzotti A, Fazzi E, Orcesi S, Cartiglia C, Longobardi M, Capra V, Lebon P, Cama A, Pulliero A, La Piana R, Lanzi G. Interferon-related transcriptome alterations in the cerebro spinal fluid cells in Aicardi-Goutières patients Brain Pathology 2008 Jul 30.

Aicardi J, Crow YJ, Stephenson JBP In: Pagon RA, Bird TC, Dolan CR, Stephens K, Aicardi-Goutières Syndrome. editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. 2005 Jun 29 [updated 2008 Apr 17].

Cerritelli SM, Crouch RJ. FEBS J. Ribonuclease H: the enzymes in eukaryotes. 2009 Mar;276(6):1494-505. Epub 2008 Feb 18. Review.

Krutyakov VM. Biochemistry (Mosc). Properties of autonomous 3'-->5' exonucleases. 2009 Aug;74(8):821-3. Review.

Crow YJ, Rehwinkel J. Hum Mol Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Genet. 2009 Oct 15;18(R2):R130-6. Review

Wassmer E, Singh J, Agrawal S, Santra S, Crow YJ. Elevated pterins in cerebral spinal fluid--biochemical marker of Aicardi-Goutières syndrome. Dev Med Child Neurol. 2009 Oct;51(10):841-2.

Rice GI, Bond J, Asipu A, Brunette RL, Manfield IW, Carr IM, Fuller JC, Jackson RM, Lamb T, Briggs TA, Ali M, Gornall H, Couthard LR, Aeby A, Attard-Montalto SP, Bertini E, Bodemer C, Brockmann K, Brueton LA, Corry PC, Desguerre I, Fazzi E, Cazorla AG, Gener B, Hamel BC, Heiberg A, Hunter M, van der Knaap MS, Kumar R, Lagae L, Landrieu PG, Lourenco CM, Marom D, McDermott MF, van der Merwe W, Orcesi S, Prendiville JS, Rasmussen M, Shalev SA, Soler DM, Shinawi M, Spiegel R, Tan TY, Vanderver A, Wakeling EL, Wassmer E, Whittaker E, Lebon P, Stetson DB, Bonthron DT, Crow YJ. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet. 2009 Jul;41(7):829-32. Epub 2009 Jun 14.

Lindahl T, Barnes DE, Yang YG, Robins P. Biochemical properties of mammalian TREX1 and its association with DNA replication and inherited inflammatory disease. Biochem Soc Trans. 2009 Jun;37(Pt 3):535-8.

Rajab A, Aldinger KA, El-Shirbini HA, Dobyns WB, Ross ME. Recessive developmental delay, small stature, microcephaly and brain calcifications with locus on chromosome 2. Am J Med Genet A. 2009 Feb;149A(2):129

Izzotti A, Pulliero A, Orcesi S, Cartiglia C, Longobardi MG, Capra V, Lebon P, Cama A, La Piana R, Lanzi G, Fazzi E. Interferon-related transcriptome alterations in the cerebrospinal fluid cells of Aicardi-Goutières patients. Brain Pathol. 2009 Oct;19(4):650-60. Epub 2008 Oct 23

Dale RC, Gornall H, Singh-Grewal D, Alcausin M, Rice GI, Crow YJ. Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. Am J Med Genet A. 2010 Apr;152A(4):938-42.

Juern A, Robbins A, Galbraith S, Drolet B. Aicardi-Goutières syndrome: cutaneous, laboratory, and radiologic findings: a case report. Pediatr Dermatol. 2010 Jan 1;27(1):82-5.

Shaban NM, Harvey S, Perrino FW, Hollis T.J. The structure of the mammalian RNase H2 complex provides insight into RNA.NA hybrid processing to prevent immune dysfunction. H T.J Biol Chem. 2010 Feb 5;285(6):3617-24.

Ramesh V, Bernardi B, Stafa A, Garone C, Franzoni E, Abinun M, Mitchell P, Mitra D, Friswell M, Nelson J, Shalev SA, Rice GI, Gornall H, Szynkiewicz M, Aymard F, Ganesan V, Prendiville J, Livingston JH, Crow YJ.
Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis.
Dev Med Child Neurol. 2010 Aug;52(8):725-32.

Haaxma CA, Crow YJ, van Steensel MA, Lammens MM, Rice GI, Verbeek MM, Willemsen MA.
A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.
Am J Med Genet A. 2010 Oct;152A(10):2612-7.

Thiele H, du Moulin M, Barczyk K, George C, Schwindt W, Nürnberg G, Frosch M, Kurlemann G, Roth J, Nürnberg P, Rutsch F
Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression.
Hum Mutat. 2010 Nov;31(11):E1836-50.

Rychlik MP, Chon H, Cerritelli SM, Klimek P, Crouch RJ, Nowotny M.
Crystal structures of RNase H2 in complex with nucleic acid reveal the mechanism of RNA-DNA junction recognition and cleavage.
Mol Cell. 2010 Nov 24;40(4):658-70.

Dale RC, Brilot F.
Biomarkers of inflammatory and auto-immune central nervous system disorders.
Curr Opin Pediatr. 2010 Dec;22(6):718-25

Serra M, Forcales SV, Pereira-Lopes S, Lloberas J, Celada A.
Characterization of Trex1 induction by IFN-? in murine macrophages.
J Immunol. 2011 Feb 15;186(4):2299-308.

Figiel M, Chon H, Cerritelli SM, Cybulska M, Crouch RJ, Nowotny M.
The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects.
J Biol Chem. 2011 Mar 25;286(12):10540-50

Reijns MA, Bubeck D, Gibson LC, Graham SC, Baillie GS, Jones EY, Jackson AP.
The structure of the human RNase H2 complex defines key interaction interfaces relevant to enzyme function and human disease.
J Biol Chem. 2011 Mar 25;286(12):10530-9.

Leshinsky-Silver E, Malinger G, Ben-Sira L, Kidron D, Cohen S, Inbar S, Bezaleli T, Levine A, Vinkler C, Lev D, Lerman-Sagie T.
A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.
Eur J Hum Genet. 2011 Mar;19(3):287-92

Coffin SR, Hollis T, Perrino FW.
Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.
J Biol Chem. 2011 May 13;286(19):16984-91

Bubeck D, Reijns MA, Graham SC, Astell KR, Jones EY, Jackson AP
PCNA directs type 2 RNase H activity on DNA replication and repair substrates.
Nucleic Acids Res. 2011 May;39(9):3652-66.

Laguette N, Sobhian B, Casartelli N, Ringeard M, Chable-Bessia C, Ségéral E, Yatim A, Emiliani S, Schwartz O, Benkirane M.
SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx.
Nature. 2011 May 25;474(7353):654-7

Mizuno Y, Takahashi K, Igarashi T, Saito M, Mizuguchi M.
Congenital infection-like syndrome with intracranial calcification.
Brain Dev. 2011 Jun;33(6):530-3

Namjou B, Kothari PH, Kelly JA, Glenn SB, Ojwang JO, Adler A, Alarcón-Riquelme ME, Gallant CJ, Boackle SA, Criswell LA, Kimberly RP, Brown E, Edberg J, Stevens AM, Jacob CO, Tsao BP, Gilkeson GS, Kamen DL, Merrill JT, Petri M, Goldman RR, Vila LM, Anaya JM, Niewold TB, Martin J, Pons-Estel BA, Sabio JM, Callejas JL, Vyse TJ, Bae SC, Perrino FW, Freedman BI, Scofield RH, Moser KL, Gaffney PM, James JA, Langefeld CD, Kaufman KM, Harley JB, Atkinson JP.
Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort.
Genes Immun. 2011 Jun;12(4):270-9.

Hrecka K, Hao C, Gierszewska M, Swanson SK, Kesik-Brodacka M, Srivastava S, Florens L, Washburn MP, Skowronski J.
Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein.
Nature. 2011 Jun 29;474(7353):658-61

du Moulin M, Nürnberg P, Crow YJ, Rutsch F.
Cerebral vasculopathy is a common feature in Aicardi-Goutieres syndrome associated with SAMHD1 mutations.
Proc Natl Acad Sci U S A. 2011 Jun 28;108(26):E232; author reply E233

Fye JM, Orebaugh CD, Coffin SR, Hollis T, Perrino FW.
Dominant mutation of the TREX1 exonuclease gene in lupus and Aicardi-Goutieres syndrome.
J Biol Chem. 2011 Sep 16;286(37):32373-82

Manel N, Littman DR.
Hiding in plain sight: how HIV evades innate immune responses.
Cell. 2011 Oct 14;147(2):271-4

Ramantani G, Häusler M, Niggemann P, Wessling B, Guttmann H, Mull M, Tenbrock K, Lee-Kirsch MA.
Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.
J Child Neurol. 2011 Nov;26(11):1425-8.

Crow YJ.
Type I interferonopathies: a novel set of inborn errors of immunity.
Ann N Y Acad Sci. 2011 Nov;1238:91-8

Beck-Engeser GB, Eilat D, Wabl M.
An autoimmune disease prevented by anti-retroviral drugs.
Retrovirology. 2011 Nov 8;8:91.

Goldstone DC, Ennis-Adeniran V, Hedden JJ, Groom HC, Rice GI, Christodoulou E, Walker PA, Kelly G, Haire LF, Yap MW, de Carvalho LP, Stoye JP, Crow YJ, Taylor IA, Webb M.
HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase.
Nature. 2011 Nov 6;480(7377):379-82

Orebaugh CD, Fye JM, Harvey S, Hollis T, Perrino FW.
The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.
J Biol Chem. 2011 Nov 18;286(46):40246-54.

Thibault M, Leydet J, Tournier-Lasserve E, Crow YJ, Rivier F, Echenne B, Langlois C, Daudet H, Sarda P, Roubertie A.
Genetic syndromes that mimic congenital infections: report of 2 cases.
Arch Pediatr. 2011 Dec;18(12):1297-1301

Pulliero A, Fazzi E, Cartiglia C, Orcesi S, Balottin U, Uggetti C, La Piana R, Olivieri I, Galli J, Izzotti A.
The Aicardi-Goutières syndrome. Molecular and clinical features of RNAse deficiency and microRNA overload.
Mutat Res. 2011 Dec 1;717(1-2):99-108

Powell RD, Holland PJ, Hollis T, Perrino FW.
Aicardi-Goutieres syndrome gene and HIV-1 restriction factor SAMHD1 is a dGTP-regulated deoxynucleotide triphosphohydrolase.
J Biol Chem. 2011 Dec 23;286(51):43596-600

Berger A, Sommer AF, Zwarg J, Hamdorf M, Welzel K, Esly N, Panitz S, Reuter A, Ramos I, Jatiani A, Mulder LC, Fernandez-Sesma A, Rutsch F, Simon V, König R, Flory E.
SAMHD1-deficient CD14+ cells from individuals with Aicardi-Goutières syndrome are highly susceptible to HIV-1 infection.
PLoS Pathog. 2011 Dec;7(12)

Bailey SL, Harvey S, Perrino FW, Hollis T.
Defects in DNA degradation revealed in crystal structures of TREX1 exonuclease mutations linked to autoimmune disease.
DNA Repair (Amst). 2012 Jan 2;11(1):65-73

Izzotti A, Longobardi M, Cartiglia C, Anzuini F, Arrigo P, Fazzi E, Orcesi S, Piana RL, Pulliero A.
Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.
J Child Neurol. 2012 Jan;27(1):51-60

Gall A, Treuting P, Elkon KB, Loo YM, Gale M Jr, Barber GN, Stetson DB.
Autoimmunity initiates in nonhematopoietic cells and progresses via lymphocytes in an interferon-dependent autoimmune disease.
Immunity. 2012 Jan 27;36(1):120-31.

Lazzaro F, Novarina D, Amara F, Watt DL, Stone JE, Costanzo V, Burgers PM, Kunkel TA, Plevani P, Muzi-Falconi M.
RNase H and postreplication repair protect cells from ribonucleotides incorporated in DNA.
Mol Cell. 2012 Jan 13;45(1):99-110

Schaller T, Goujon C, Malim MH.
AIDS/HIV. HIV interplay with SAMHD1.
Science. 2012 Mar 16;335(6074):1313-4.

Reijns MA, Rabe B, Rigby RE, Mill P, Astell KR, Lettice LA, Boyle S, Leitch A, Keighren M, Kilanowski F, Devenney PS, Sexton D, Grimes G, Holt IJ, Hill RE, Taylor MS, Lawson KA, Dorin JR, Jackson AP.
Enzymatic removal of ribonucleotides from DNA is essential for mammalian genome integrity and development
Cell. 2012 May 25;149(5):1008-22

Prinz M, Knobeloch KP.
Type I interferons as ambiguous modulators of chronic inflammation in the central nervous system.
Front Immunol. 2012;3:67

Chahwan C, Chahwan R.
Aicardi-Goutieres syndrome: from patients to genes and beyond.
Clin Genet. 2012 May;81(5):413-20

Pulliero A, Marengo B, Domenicotti C, Longobardi MG, Fazzi E, Orcesi S, Bianchi M, Balottin U, Izzotti A.
Inhibition of neuroblastoma cell growth by TREX1-mutated human lymphocytes.
Oncol Rep. 2012 May;27(5):1689-94

Coon S, Wang D, Wu L.
Polymorphisms of the SAMHD1 Gene Are Not Associated with the Infection and Natural Control of HIV Type 1 in Europeans and African-Americans.
AIDS Res Hum Retroviruses. 2012 Jun 1

Tüngler V, Silver RM, Walkenhorst H, Günther C, Lee-Kirsch MA
Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Goutières syndrome
Br J Dermatol. 2012 Jul;167(1):212-4

Goncalves A, Karayel E, Rice GI, Bennett KL, Crow YJ, Superti-Furga G, Bürckstümmer T.
SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.
Hum Mutat. 2012 Jul;33(7):1116-22.

Hiller B, Achleitner M, Glage S, Naumann R, Behrendt R, Roers A.
Mammalian RNase H2 removes ribonucleotides from DNA to maintain genome integrity.
J Exp Med. 2012 Jul 30;209(8):1419-26

Rossler L, Ludwig-Seibold C, Thiels Ch, Schaper J.
Aicardi-Goutières syndrome with emphasis on sonographic features in infancy.
Pediatr Radiol. 2012 Aug;42(8):932-40.

Chen Z, Zhang L, Ying S.
SAMHD1: a novel antiviral factor in intrinsic immunity.
Future Microbiol. 2012 Sep;7:1117-26.

Ayinde D, Casartelli N, Schwartz O.

Restricting HIV the SAMHD1 way: through nucleotide starvation, Nat Rev Microbiol. 2012 Oct;10(10):675-80

 

Bronson PG, Chaivorapol C, Ortmann W, Behrens TW, Graham RR.

The genetics of type I interferon in systemic lupus erythematosus, Curr Opin Immunol. 2012 Oct;24(5):530-7

 

Descours B, Cribier A, Chable-Bessia C, Ayinde D, Rice G, Crow Y, Yatim A, Schwartz O, Laguette N, Benkirane M.

SAMHD1 restricts HIV-1 reverse transcription in quiescent CD4(+) T-cells, Retrovirology. 2012 Oct 23;9:87

 

Baldauf HM, Pan X, Erikson E, Schmidt S, Daddacha W, Burggraf M, Schenkova K, Ambiel I, Wabnitz G, Gramberg T, Panitz S, Flory E, Landau NR, Sertel S, Rutsch F, Lasitschka F, Kim B, König R, Fackler OT, Keppler OT. SAMHD1 restricts HIV-1 infection in resting CD4(+) T cells, Nat Med. 2012 Nov;18(11):1682-7.

 

Ostergaard E, Joensen F, Sundberg K, Duno M, Hansen FJ, Batbayli M, Sørensen N, Born AP.

A novel RNASEH2B splice site mutation responsible for Aicardi-Goutieres syndrome in the Faroe Islands, Acta Paediatr. 2012 Nov;101(11)   

 

Coon S, Wang D, Wu L.

Polymorphisms of the SAMHD1 gene are not associated with the infection and natural control of HIV type 1 in Europeans and African-Americans, AIDS Res Hum Retroviruses. 2012 Dec;28(12):1565-73

 

Schmidt JL, Olivieri I, Vento JM, Fazzi E, Gordish-Dressman H, Orcesi S, Vanderver. Family history of autoimmune disease in patients with Aicardi-Goutières syndrome, Clin Dev Immunol. 2012;2012:206730

Kamei A, Akasaka M, Soga N, Suzuki Y, Uchide M, Chida S.

Aicardi-Goutières syndrome with systemic lupus erythematosus and hypothyroidism, Brain Dev. 2013 Jan;35(1):87-90

 

Cuadrado E, Jansen MH, Anink J, De Filippis L, Vescovi AL, Watts C, Aronica E, Hol EM, Kuijpers TW. Chronic exposure of astrocytes to interferon-α reveals molecular changes related to Aicardi-Goutieres syndrome, Brain. 2013 Jan;136(Pt 1):245-58.

Chon H, Sparks JL, Rychlik M, Nowotny M, Burgers PM, Crouch RJ, Cerritelli SM.

RNase H2 roles in genome integrity revealed by unlinking its activities, Nucleic Acids Res. 2013 Mar 1;41(5):3130-43

 

Beloglazova N, Flick R, Tchigvintsev A, Brown G, Popovic A, Nocek B, Yakunin AF.

Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Goutieres syndrome and HIV-1 restriction, J Biol Chem. 2013 Mar 22;288(12):8101-10

 

Troedson C, Wong M, Dalby-Payne J, Wilson M, Dexter M, Rice GI, Crow YJ, Dale RC.

Systemic lupus erythematosus due to C1q deficiency with progressive encephalopathy, intracranial calcification and acquired moyamoya cerebral vasculopathy, Lupus. 2013 May;22(6):639-43

 

Tüngler V, Staroske W, Kind B, Dobrick M, Kretschmer S, Schmidt F, Krug C, Lorenz M, Chara O, Schwille P, Lee-Kirsch MA.

Single-stranded nucleic acids promote SAMHD1 complex formation, J Mol Med (Berl). 2013 Jun;91(6):759-70

 

Ablasser A, Hertrich C, Waßermann R, Hornung V.

Nucleic acid driven sterile inflammation, Clin Immunol. 2013 Jun;147(3):207-15

 

Aringer M, Günther C, Lee-Kirsch MA.

Innate immune processes in lupus erythematosus, Clin Immunol. 2013 Jun;147(3):216-22

 

Hofer MJ, Campbell IL.

Type I interferon in neurological disease-the devil from within, Cytokine Growth Factor Rev. 2013 Jun;24(3):257-67

 

White R, Saxty B, Large J, Kettleborough CA, Jackson AP.

Identification of small-molecule inhibitors of the ribonuclease H2 enzyme, J Biomol Screen. 2013 Jun;18(5):610-20

 

Behrendt R, Schumann T, Gerbaulet A, Nguyen LA, Schubert N, Alexopoulou D, Berka U, Lienenklaus S, Peschke K, Gibbert K, Wittmann S, Lindemann D, Weiss S, Dahl A, Naumann R, Dittmer U, Kim B, Mueller W, Gramberg T, Roers A.

Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response, Cell Rep. 2013 Aug 29;4(4):689-96

 

Rice GI, Reijns MA, Coffin SR, Forte GM, Anderson BH, Szynkiewicz M, Gornall H, Gent D, Leitch A, Botella MP, Fazzi E, Gener B, Lagae L, Olivieri I, Orcesi S, Swoboda KJ, Perrino FW, Jackson AP, Crow YJ.

Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome, Hum Mutat. 2013 Aug;34(8):1066-70

 

Rehwinkel J, Maelfait J, Bridgeman A, Rigby R, Hayward B, Liberatore RA, Bieniasz PD, Towers GJ, Moita LF, Crow YJ, Bonthron DT, Reis e Sousa C. SAMHD1-dependent retroviral control and escape in mice, EMBO J. 2013 Sep 11;32(18):2454-62

Roesch F, Schwartz O.

The SAMHD1 knockout mouse model: in vivo veritas?, EMBO J. 2013 Sep 11;32(18):2427-9

 

Zhao K, Du J, Han X, Goodier JL, Li P, Zhou X, Wei W, Evans SL, Li L, Zhang W, Cheung LE, Wang G, Kazazian HH Jr, Yu XF.

Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutières syndrome-related SAMHD1, Cell Rep. 2013 Sep 26;4(6):1108-15

 

Orebaugh CD, Fye JM, Harvey S, Hollis T, Wilkinson JC, Perrino FW.

The TREX1 C-terminal region controls cellular localization through ubiquitination, J Biol Chem. 2013 Oct 4;288(40):28881-92

 

Rabe B.

Aicardi-Goutières syndrome: clues from the RNase H2 knock-out mouse, J Mol Med (Berl). 2013 Nov;91(11):1235-40

 

Ji X, Wu Y, Yan J, Mehrens J, Yang H, DeLucia M, Hao C, Gronenborn AM, Skowronski J, Ahn J, Xiong Y. Mechanism of allosteric activation of SAMHD1 by dGTP, Nat Struct Mol Biol. 2013 Nov;20(11):1304-9.

Abe J, Nakamura K, Nishikomori R, Kato M, Mitsuiki N, Izawa K, Awaya T, Kawai T, Yasumi T, Toyoshima I, Hasegawa K, Ohshima Y, Hiragi T, Sasahara Y, Suzuki Y, Kikuchi M, Osaka H, Ohya T, Ninomiya S, Fujikawa S, Akasaka M, Iwata N, Kawakita A, Funatsuka M, Shintaku H, Ohara O, Ichinose H, Heike T.

A nationwide survey of Aicardi-Goutieres syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study, Rheumatology (Oxford). 2013 Dec 3

 

Rice GI, Forte GM, Szynkiewicz M, Chase DS, Aeby A, Abdel-Hamid MS, Ackroyd S, Allcock R, Bailey KM, Balottin U, Barnerias C, Bernard G, Bodemer C, Botella MP, Cereda C, Chandler KE, Dabydeen L, Dale RC, De Laet C, De Goede CG, Del Toro M, Effat L, Enamorado NN, Fazzi E, Gener B, Haldre M, Lin JP, Livingston JH, Lourenco CM, Marques W Jr, Oades P, Peterson P, Rasmussen M, Roubertie A, Schmidt JL, Shalev SA, Simon R, Spiegel R, Swoboda KJ, Temtamy SA, Vassallo G, Vilain CN, Vogt J, Wermenbol V, Whitehouse WP, Soler D, Olivieri I, Orcesi S, Aglan MS, Zaki MS, Abdel-Salam GM, Vanderver A, Kisand K, Rozenberg F, Lebon P, Crow YJ. Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study, Lancet Neurol. 2013 Dec;12(12):1159-69.

 

Krägeloh-Mann I. Characterisation of Aicardi-Goutières syndrome, Lancet Neurol. 2013 Dec;12(12):1131-2

 

Sze A, Olagnier D, Lin R, van Grevenynghe J, Hiscott J. SAMHD1 host restriction factor: a link with innate immune sensing of retrovirus infection, J Mol Biol. 2013 Dec 13;425(24):4981-94

Pereira-Lopes S, Celhar T, Sans-Fons G, Serra M, Fairhurst AM, Lloberas J, Celada A.

The exonuclease Trex1 restrains macrophage proinflammatory activation, J Immunol. 2013 Dec 15;191(12):6128-35

 

Behrendt R, Roers A.

Mouse models for Aicardi-Goutières syndrome provide clues to the molecular pathogenesis of systemic autoimmunity. Clin Exp Immunol. 2014 Jan;175(1):9-16.

 

Lee-Kirsch MA, Wolf C, Günther C. Aicardi-Goutières syndrome: a model disease for systemic autoimmunity, Clin Exp Immunol. 2014 Jan;175(1):17-24.

Kretschmer S, Wolf C, König N, Staroske W, Guck J, Häusler M, Luksch H, Nguyen LA, Kim B, Alexopoulou D, Dahl A, Rapp A, Cardoso MC, Shevchenko A, Lee-Kirsch MA. SAMHD1 prevents autoimmunity by maintaining genome stability. Ann Rheum Dis. 2014 Jan 29

Han S, Lin YC, Wu T, Salgado AD, Mexhitaj I, Wuest SC, Romm E, Ohayon J, Goldbach-Mansky R, Vanderver A, Marques A, Toro C, Williamson P, Cortese I, Bielekova B. Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases. J Immunol. 2014 Mar 15;192(6):2551-63

Zhang R, Bloch N, Nguyen LA, Kim B, Landau NR. SAMHD1 restricts HIV-1 replication and regulates interferon production in mouse myeloid cells. PLoS One. 2014 Feb 19;9(2)

Fye JM, Coffin SR, Orebaugh CD, Hollis T, Perrino FW. The Arg-62 residues of the TREX1 exonuclease act across the dimer interface contributing to catalysis in the opposing protomers. J Biol Chem. 2014 Apr 18;289(16):11556-65

Nunes RH, Pacheco FT, da Rocha AJ. Magnetic resonance imaging of anterior temporal lobe cysts in children: discriminating special imaging features in a particular group of diseases. Neuroradiology. 2014 Jul;56(7):569-77

Shi L, Zhang Z, Yu AM, Wang W, Wei Z, Akhter E, Maurer K, Costa Reis P, Song L, Petri M, Sullivan KE. The SLE transcriptome exhibits evidence of chronic endotoxin exposure and has widespread dysregulation of non-coding and coding RNAs. PLoS One. 2014 May 5;9(5)

Ablasser A, Hemmerling I, Schmid-Burgk JL, Behrendt R, Roers A, Hornung V. TREX1 deficiency triggers cell-autonomous immunity in a cGAS-dependent manner. J Immunol. 2014 Jun 15;192(12):5993-7

Potenski CJ, Niu H, Sung P, Klein HL. Avoidance of ribonucleotide-induced mutations by RNase H2 and Srs2-Exo1 mechanisms. Nature. 2014 Jul 10;511(7508):251-4

Cuadrado E, Vanderver A, Brown KJ, Sandza A, Takanohashi A, Jansen MH, Anink J, Herron B, Orcesi S, Olivieri I, Rice GI, Aronica E, Lebon P, Crow YJ, Hol EM, Kuijpers TW. Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies. Ann Rheum Dis. 2014 Jun 6

Kind B, Muster B, Staroske W, Herce HD, Sachse R, Rapp A, Schmidt F, Koss S, Cardoso MC, Lee-Kirsch MA. Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome. Hum Mol Genet. 2014 Nov 15;23(22):5950-60

Lessel D, Saha B, Hisama F, Kaymakamzade B, Nurlu G, Gursoy-Özdemir Y, Thiele H, Nürnberg P, Martin GM, Kubisch C, Oshima J. Atypical Aicardi-Goutieres syndrome: is the WRN locus a modifier? Am J Med Genet A. 2014 Oct;164A(10):2510-3.

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, Fujita T, Heike T. Aicardi-Goutières syndrome is caused by IFIH1 mutations. Am J Hum Genet. 2014 Jul 3;95(1):121-5

Ryoo J, Choi J, Oh C, Kim S, Seo M, Kim SY, Seo D, Kim J, White TE, Brandariz-Nuñez A, Diaz-Griffero F, Yun CH, Hollenbaugh JA, Kim B, Baek D, Ahn K. The ribonuclease activity of SAMHD1 is required for HIV-1 restriction. Nat Med. 2014 Aug;20(8):936-41

Pulliero A, Marengo B, Fenoglio D, Parodi A, Cereda C, Domenicotti C, Orcesi S, Galli J, Olivieri I, Filaci G, Balottin U, Fazzi E, Izzotti A. Prevention of Lymphocyte Neurotoxic Effects by microRNA Delivery. Microrna. 2014;2(3):187-93

Diamond J. Autosomal dominant IFIH1 gain-of-function mutations cause Aicardi-Goutières syndrome. Clin Genet. 2014 Nov;86(5):473-4

Reijns MA, Jackson AP. Ribonuclease H2 in health and disease. Biochem Soc Trans. 2014 Aug;42(4):717-25

Yang S, Deng P, Zhu Z, Zhu J, Wang G, Zhang L, Chen AF, Wang T, Sarkar SN, Billiar TR, Wang Q. Adenosine deaminase acting on RNA 1 limits RIG-I RNA detection and suppresses IFN production responding to viral and endogenous RNAs. J Immunol. 2014 Oct 1;193(7):3436-45

Straussberg R, Marom D, Sanado-Inbar E, Lakovsky Y, Horev G, Shalev SA, Lev D, Lerman-Sagie T, Leshinsky-Silver E. A Possible Genotype-Phenotype Correlation in Ashkenazi-Jewish Individuals With Aicardi-Goutières Syndrome Associated With SAMHD1 Mutation. J Child Neurol. 2014 Sep 22

Ahn J, Ruiz P, Barber GN. Intrinsic self-DNA triggers inflammatory disease dependent on STING. J Immunol. 2014 Nov 1;193(9):4634-42

Ji X, Tang C, Zhao Q, Wang W, Xiong Y. Structural basis of cellular dNTP regulation by SAMHD1. Proc Natl Acad Sci U S A. 2014 Oct 14;111(41):E4305-14.

Pizzi S, Sertic S, Orcesi S, Cereda C, Bianchi M, Jackson AP, Lazzaro F, Plevani P, Muzi-Falconi M. Reduction of hRNase H2 activity in Aicardi-Goutières syndrome cells leads to replication stress and genome instability. Hum Mol Genet. 2014 Sep 30

Belot A, Wassmer E, Twilt M, Lega JC, Zeef LA, Oojageer A, Kasher PR, Mathieu AL, Malcus C, Demaret J, Fabien N, Collardeau-Frachon S, Mechtouff L, Derex L, Walzer T, Rice GI, Durieu I, Crow YJ. Mutations in CECR1 associated with a neutrophil signature in peripheral blood. Pediatr Rheumatol Online J. 2014 Sep 24;12:44.

Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C, Volpi S, Li Z, Sanal O, Mansouri D, Tezcan I, Rice GI, Chen C, Mansouri N, Mahdaviani SA, Itan Y, Boisson B, Okada S, Zeng L, Wang X, Jiang H, Liu W, Han T, Liu D, Ma T, Wang B, Liu M, Liu JY, Wang QK, Yalnizoglu D, Radoshevich L, Uzé G, Gros P, Rozenberg F, Zhang SY, Jouanguy E, Bustamante J, García-Sastre A, Abel L, Lebon P, Notarangelo LD, Crow YJ, Boisson-Dupuis S, Casanova JL, Pellegrini S. Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation. Nature. 2015 Jan 1;517(7532):89-93

La Piana R, Tran LT, Guerrero K, Brais B, Levesque S, Sébire G, Riou E, Bernard G. Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome. Neuropediatrics. 2014 Dec;45(6):406-10

Morrissey C, Schwefel D, Ennis-Adeniran V, Taylor IA, Crow YJ, Webb M. The eukaryotic elongation factor eEF1A1 interacts with SAMHD1. Biochem J. 2014 Nov 24

Mannion NM, Greenwood SM, Young R, Cox S, Brindle J, Read D, Nellåker C, Vesely C, Ponting CP, McLaughlin PJ, Jantsch MF, Dorin J, Adams IR, Scadden AD, Ohman M, Keegan LP, O'Connell MA. The RNA-Editing Enzyme ADAR1 Controls Innate Immune Responses to RNA. Cell Rep. 2014 Nov 20;9(4):1482-94

Ahn J, Barber GN. Self-DNA, STING-dependent signaling and the origins of autoinflammatory disease. Curr Opin Immunol. 2014 Dec;31C:121-126.

Pendergraft WF 3rd, Means TK. AGS, SLE, and RNASEH2 mutations: translating insights into therapeutic advances. J Clin Invest. 2014 Dec 15:1-3

Günther C, Kind B, Reijns MA, Berndt N, Martinez-Bueno M, Wolf C, Tüngler V, Chara O, Lee YA, Hübner N, Bicknell L, Blum S, Krug C, Schmidt F, Kretschmer S, Koss S, Astell KR, Ramantani G, Bauerfeind A, Morris DL, Cunninghame Graham DS, Bubeck D, Leitch A, Ralston SH, Blackburn EA, Gahr M, Witte T, Vyse TJ, Melchers I, Mangold E, Nöthen MM, Aringer M, Kuhn A, Lüthke K, Unger L, Bley A, Lorenzi A, Isaacs JD, Alexopoulou D, Conrad K, Dahl A, Roers A, Alarcon-Riquelme ME, Jackson AP, Lee-Kirsch MA. Defective removal of ribonucleotides from DNA promotes systemic autoimmunity. J Clin Invest. 2014 Dec 15

Vanderver A, Prust M, Kadom N, Demarest S, Crow YJ, Helman G, Orcesi S, Piana R, Uggetti C, Wang J, Gordisch-Dressman H, Knaap MS, Livingston JH. Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition. J Child Neurol. 2014 Dec 22

Stewart Z, Molin A, Leporrier N, Belloy F, Jeanne-Pasquier C, Gérard M, Rozenberg F, Lebon P, Creveaux I, Benoist G. Prenatal diagnosis of aicardi-goutières syndrome: a sonographic mimicry of cytomegalovirus fetopathy. J Ultrasound Med. 2015 Jan;34(1):169-71

Lanzi G, D’Arrigo S, Drumbl G, et al. Goutieres F. Aicardi-Goutieres syndrome. Lanzi G, Fazzi E, D'Arrigo S, Orcesi S, Maraucci I, Uggetti C, Bertini E, Lebon P. Izzotti A., Lanzi G., Fazzi E., Orcesi S., La Piana R., Lebon P. Crow YJ, Hayward BE, Parmar R, Robins P, Leitch A, Ali M, Black DN, van Bokhoven H, Brunner HG, Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Gillian Rice, Teresa Patrick, Rekha Parmar, Claire F Taylor, Alec Aeby, Jean Aicardi, Rafael Artuch, S. Orcesi, A. Pessagno, R. Biancheri, R. La Piana, M. Mascaretti, A. Rossi. G.I. Rice, Y.J. Crow, Yun-GuiYang, Tomas Lindahl, Deborah E.Barnes Trex1 Exonuclease degrade sssDNA to prevent chronic Mark O’Driscoll TREX1 DNA exonuclease deficiency, accumulation of single stranded DNA and complex John B.P. Stephenson Aicardi-Goutierès Syndrome (AGS) P.J. Brooks, Tsu-Fan Cheng, Lori Cooper Do all of the neurologic deseases in patient with DNA repair Jane T. Van Heteren, Flore Rozemberg, Eleonora Aronica, Dirk Troost, Pierre Lebon, Taco Kuijpers Athanassios Kolivras, Alec Aeby, Yanick J.Crow, Gillian I.Rice ,Ursula Sass and Josette André A. de la Fuente Juarez, L. Sanchez Pozon, A. Munoz Prades, J. Campistol Plana y R. Porta Ribera Y. J.Crow, J.H. Livingston Aicardi-Goutières syndrome: an important Mendelian mimic of congenital Izzotti A, Fazzi E, Orcesi S, Cartiglia C, Longobardi M, Capra V, Lebon P, Cama A, Pulliero A, S. Orcesi, R. La Piana, and E. Fazzi Hall D, Rice GI, Akbar N, Meager A, Crow YJ, Lim MJ. Prendiville JS, Crow YJ Brisman S, Gonzalez M, Morel KD Uggetti C, La Piana R, Orcesi S, Egitto MG, Crow YJ, Fazzi E. Ramantani G, Niggemann P, Bast T, Lee-Kirsch MA Reply by Uggetti C. and La Piana R. Abdel-Salam GM, El-Kamah GY, Rice GI, El-Darouti M, Gornall H, Szynkiewicz M, Aymard F, Zaki MS, Taipa R, Pinto PS, Magalhães M. Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, Borozdin W, Mah JK, Ungerath K, Rice GI, Kasher PR, Forte GM, Mannion NM, Greenwood SM, Szynkiewicz M, Dickerson JE, Bhaskar SS, Pulliero A, Marengo B, Longobardi M, Fazzi E, Orcesi S, Olivieri I, Cereda C, Domenicotti C, Livingston JH, Stivaros S, van der Knaap MS, Crow YJ. Fazzi E, Cattalini M, Orcesi S, Tincani A, Andreoli L, Balottin U, De Simone M, Fredi M, Vogt J, Agrawal S, Ibrahim Z, Southwood TR, Philip S, Macpherson L, Bhole MV, Crow YJ, Oley C. Olivieri I, Cattalini M, Tonduti D, La Piana R, Uggetti C, Galli J, Meini A, Tincani A, Moratto D, La Piana R, Uggetti C, Olivieri I, Tonduti D, Balottin U, Fazzi E, Orcesi S. Livingston JH, Stivaros S, Warren D, Crow YJ. Ramantani G, Maillard LG, Bast T, Husain RA, Niggemann P, Kohlhase J, Hertzberg C, Ungerath K, Crow YJ, Vanderver A, Orcesi S, Kuijpers TW, Rice GI. Livingston JH, Lin JP, Dale RC, Gill D, Brogan P, Munnich A, Kurian MA, Gonzalez-Martinez V,