Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodies

Annals of the Rheumatic Diseases

Volumn 74, Issue 10, 2015, Pages 1931-1939

  Cuadrado, Eloy ^a,b   Vanderver, Adeline ^c   Brown, Kristy J ^c   Sandza, Annie ^c   Takanohashi, Asako ^c   Jansen, Machiel H ^b   Anink, Jasper ^b   Herron, Brian ^d   Orcesi, Simona ^e   Olivieri, Ivana ^e   Rice, Gillian I ^f   Aronica, Eleonora ^b,g   Lebon, Pierre ^h   Crow, Yanick J ^f   Hol, Elly M ^a,g,i   Kuijpers, Taco W ^b  

^a NETHERLANDS INSTITUTE FOR NEUROSCIENCE   (Netherlands)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^d ROYAL VICTORIA HOSPITAL   (United Kingdom)

^e C MONDINO NATIONAL NEUROLOGICAL INSTITUTE   (Italy)

^f UNIVERSITY OF MANCHESTER   (United Kingdom)

^g UNIVERSITY OF AMSTERDAM   (Netherlands)

^h Service de Virologie ^*  (France)

ⁱ UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN ANTIBODY; CELL NUCLEUS ANTIGEN; CYCLINE; ENTACTIN; EPITOPE; FIBRINOGEN; GLIADIN; IMMUNOGLOBULIN; LAMININ; RO ANTIBODY; SMALL NUCLEAR RIBONUCLEOPROTEIN; AUTOANTIBODY; AUTOANTIGEN; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M;

AICARDI GOUTIERES SYNDROME; ARTICLE; ASTROCYTE; AUTOIMMUNE DISEASE; BLOOD SAMPLING; BRAIN TISSUE; CASE REPORT; CENTRAL NERVOUS SYSTEM; CONTROLLED STUDY; ENDOTHELIUM CELL; HUMAN; HUMAN TISSUE; IMMUNOGLOBULIN BLOOD LEVEL; IMMUNOHISTOCHEMISTRY; IN VIVO STUDY; INFLAMMATION; MICROARRAY ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEOMICS; SYSTEMIC LUPUS ERYTHEMATOSUS; TISSUE SECTION; WHITE MATTER; ADOLESCENT; ADULT; BLOOD; BRAIN; CHILD; CLINICAL TRIAL; FEMALE; GENETICS; GENOTYPE; IMMUNOLOGY; INFANT; MALE; MIXED CONNECTIVE TISSUE DISEASE; MULTICENTER STUDY; NERVOUS SYSTEM MALFORMATION; NEUROLOGIC DISEASE; NEWBORN; PRESCHOOL CHILD; PROCEDURES; VASCULAR ENDOTHELIUM; YOUNG ADULT;

ADOLESCENT; ADULT; ASTROCYTES; AUTOANTIBODIES; AUTOANTIGENS; AUTOIMMUNE DISEASES; AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; BRAIN; CHILD; CHILD, PRESCHOOL; ENDOTHELIUM, VASCULAR; FEMALE; GENOTYPE; HUMANS; IMMUNOGLOBULIN G; IMMUNOGLOBULIN M; INFANT; INFANT, NEWBORN; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIXED CONNECTIVE TISSUE DISEASE; NERVOUS SYSTEM MALFORMATIONS; PROTEOMICS; YOUNG ADULT;

EID: 84942855451     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2014-205396     Document Type: Article

References (49)

1. 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.
2. Crow YJ, Livingston JH. Aicardi-Goutières syndrome: an important Mendelian mimic of congenital infection. Dev Med Child Neurol 2008;50:410-16.
3. Goutières F, Aicardi J, Barth PG, et al. Aicardi-Goutières syndrome: an update and results of interferon-alpha studies. Ann Neurol 1998;44:900-7.
4. Lanzi G, Fazzi E, D'Arrigo S. Aicardi-Goutières syndrome: a description of 21 new cases and a comparison with the literature. Eur J Paediatr Neurol 2002;6(Suppl A):A9-22; discussion A23-25, A77-86.
5. Goutières F. Aicardi-Goutières syndrome. Brain Dev 2005;27:201-6.
6. Orcesi S, La Piana R, Fazzi E. Aicardi-Goutieres syndrome. Br Med Bull 2009;89:183-201.
7. Crow YJ, Hayward BE, Parmar R, et al. Mutations in the gene encoding the 30-50 DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet 2006;38:917-20.
8. Crow YJ, Leitch A, Hayward BE, et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nature Genetics 2006;38:910-16.
9. Rice GI, Bond J, Asipu A, et al. Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet 2009;41:829-32.
10. Rice GI, Kasher PR, Forte GMA, et al. Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature. Nat Genet 2012;44:1243-8.
11. Rice G, Patrick T, Parmar R, et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 2007;81:713-25.
12. Ramantani G, Kohlhase J, Hertzberg C, et al. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum 2010;62:1469-77.
13. Lee-Kirsch MA, Gong M, Chowdhury D, et al. Mutations in the gene encoding the 30-50 DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet 2007;39:1065-7.
14. Crow YJ, Rehwinkel J. Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity. Hum Mol Genet 2009;18:R130-6.
15. Fazzi E, Cattalini M, Orcesi S, et al. Aicardi-Goutieres syndrome, a rare neurological disease in children: A new autoimmune disorder? Autoimmunity Reviews 2013;12:506-9.
16. Namjou B, Kothari PH, Kelly JA, et al. Evaluation of the TREX1 gene in a large multi-ancestral lupus cohort. Genes Immun 2011;12:270-9.
17. Rice G, Newman WG, Dean J, et al. Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. Am J Hum Genet 2007;80:811-15.
18. Ravenscroft JC, Suri M, Rice GI, et al. Autosomal dominant inheritance of a heterozygous mutation in SAMHD1 causing familial chilblain lupus. Am J Med Genet A 2011;155A:235-7.
19. Van Heteren JT, Rozenberg F, Aronica E, et al. Astrocytes produce interferon-alpha and CXCL10, but not IL-6 or CXCL8, in Aicardi-Goutières syndrome. Glia 2008;56:568-78.
20. Rasmussen M, Skullerud K, Bakke SJ, et al. Cerebral thrombotic microangiopathy and antiphospholipid antibodies in Aicardi-Goutieres syndrome-report of two sisters. Neuropediatrics 2005;36:40-4.
21. Li Q-Z, Zhen QL, Xie C, et al. Identification of autoantibody clusters that best predict lupus disease activity using glomerular proteome arrays. J Clin Invest 2005;115:3428-39.
22. Li Q-Z, Zhou J, Wandstrat AE, et al. Protein array autoantibody profiles for insights into systemic lupus erythematosus and incomplete lupus syndromes. Clin Exp Immunol 2007;147:60-70.
23. Sturn A, Quackenbush J, Trajanoski Z. Genesis: cluster analysis of microarray data. Bioinformatics 2002;18:207-8.
24. Provost TT, Herrera-Esparza R, Diaz LA. Nucleoprotein autoantibodies in lupus erythematosus. J Invest Dermatol 1985;85:133s-9s.
25. Fishbein E, Alarcon-Segovia D, Vega JM. Antibodies to histones in systemic lupus erythematosus. Clin Exp Immunol 1979;36:145-50.
26. Negoro N, Kanayama Y, Takeda T, et al. Clinical significance of U1-RNP immune complexes in mixed connective tissue disease and systemic lupus erythematosus. Rheumatol Int 1987;7:7-11.
27. Aicardi J, Goutières F. Systemic lupus erythematosus or Aicardi-Goutières syndrome? Neuropediatrics 2000;31:113.
28. Dale RC, Ping Tang S, Heckmatt JZ, et al. Familial systemic lupus erythematosus and congenital infection-like syndrome. Neuropediatrics 2000;31:155-8.
29. Rashtak S, Rashtak S, Snyder MR, et al. Serology of celiac disease in gluten-sensitive ataxia or neuropathy: role of deamidated gliadin antibody. J Neuroimmunol 2011;230:130-4.
30. Alaedini A, Okamoto H, Briani C, et al. Immune cross-reactivity in celiac disease: anti-gliadin antibodies bind to neuronal synapsin I. J Immunol 2007;178:6590-5.
31. Nanri K, Shibuya M, Taguchi T, et al. Selective loss of Purkinje cells in a patient with anti-gliadin-antibody-positive autoimmune cerebellar ataxia. Diagn Pathol 2011;6:14.
32. Op De Beéck K, Vermeersch P, Verschueren P, et al. Antinuclear antibody detection by automated multiplex immunoassay in untreated patients at the time of diagnosis. Autoimmun Rev 2012;12:137-43.
33. Bekeredjian-Ding I. B cell encounters with apoptotic cells. Autoimmunity 2013;46:307-11.
34. Barth PG, Walter A, van Gelderen I. Aicardi-Goutières syndrome: a genetic microangiopathy? Acta Neuropathol 1999;98:212-16.
35. Domiciano DS, Carvalho JF, Shoenfeld Y. Pathogenic role of anti-endothelial cell antibodies in autoimmune rheumatic diseases. Lupus 2009;18:1233-8.
36. Lennon VA, Wingerchuk DM, Kryzer TJ, et al. A serum autoantibody marker of neuromyelitis optica: distinction from multiple sclerosis. Lancet 2004;364:2106-12.
37. Lennon VA, Kryzer TJ, Pittock SJ, et al. IgG marker of optic-spinal multiple sclerosis binds to the aquaporin-4 water channel. J Exp Med 2005;202:473-7.
38. Papadopoulos MC, Verkman AS. Aquaporin water channels in the nervous system. Nat Rev Neurosci 2013;14:265-77.
39. Diamond B, Honig G, Mader S, et al. Brain-reactive antibodies and disease. Annu Rev Immunol 2013;31:345-85.
40. Kirvan CA, Swedo SE, Heuser JS, et al. Mimicry and autoantibody-mediated neuronal cell signaling in Sydenham chorea. Nat Med 2003;9:914-20.
41. Kolivras A, Aeby A, Crow YJ, et al. Cutaneous histopathological findings of Aicardi-Goutières syndrome, overlap with chilblain lupus. J Cutan Pathol 2008;35:774-8.
42. Xin B, Jones S, Puffenberger EG, et al. Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. Proc Natl Acad Sci USA 2011;108:5372-7.
43. Thiele H, du Moulin M, Barczyk K, et al. 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;31:E1836-50.
44. Ramesh V, Bernardi B, Stafa A, et al. Intracerebral large artery disease in Aicardi-Goutières syndrome implicates SAMHD1 in vascular homeostasis. Dev Med Child Neurol 2010;52:725-32.
45. Olivieri I, Cattalini M, Tonduti D, et al. Dysregulation of the immune system in Aicardi-Goutières syndrome: another example in a TREX1-mutated patient. Lupus 2013;22:1064-9.
46. Orcesi S, Pessagno A, Biancheri R, et al. Aicardi-Goutières syndrome presenting atypically as a sub-acute leukoencephalopathy. Eur J Paediatr Neurol 2008;12:408-11.
47. Lebon P, Meritet JF, Krivine A, et al. Interferon and Aicardi-Goutières syndrome. Eur J Paediatr Neurol 2002;6(Suppl A):A47-53; discussion A55-58, A77-86.
48. Kuijpers TW. Aicardi-Goutières syndrome: immunophenotyping in relation to interferon-alpha. Eur J Paediatr Neurol 2002;6(Suppl A):A59-64; discussion A65-66, A77-86.
49. Crow YJ, Vanderver A, Orcesi S, et al. Therapies in Aicardi-Goutières syndrome: therapies in AGS. Clin Exp Immunol 2014;175:1-8.