Elevation of proinflammatory cytokines in patients with Aicardi-Goutières syndrome

Neurology

Volumn 80, Issue 11, 2013, Pages 997-1002

  Takanohashi, Asako ^a   Prust, Morgan ^b   Wang, Jichuan ^b   Gordish Dressman, Heather ^a   Bloom, Miriam ^c   Rice, Gillian I ^d   Schmidt, Johanna L ^a,b   Crow, Yanick J ^d   Lebon, Pierre ^e   Kuijpers, Taco W ^f   Nagaraju, Kanneboyina ^a   Vanderver, Adeline ^a,b  

^a Center for Nutrition Genetics & Health   (United States)

^b Center for Clinic and Community Research   (United States)

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

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e Université Paris Descartes ^*  (France)

^f VU UNIVERSITY AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA2 INTERFERON; CD135 ANTIGEN; CD40 LIGAND; CYTOKINE; GAMMA INTERFERON; GAMMA INTERFERON INDUCIBLE PROTEIN 10; GRANULOCYTE COLONY STIMULATING FACTOR; INTERLEUKIN 1 RECEPTOR BLOCKING AGENT; INTERLEUKIN 10; INTERLEUKIN 12P40; INTERLEUKIN 12P70; INTERLEUKIN 13; INTERLEUKIN 1ALPHA; INTERLEUKIN 5; INTERLEUKIN 6; INTERLEUKIN 7; INTERLEUKIN 9; LYMPHOTOXIN; MACROPHAGE DERIVED CHEMOKINE; MONOCYTE CHEMOTACTIC PROTEIN 1; MONOCYTE CHEMOTACTIC PROTEIN 3; SOLUBLE INTERLEUKIN 2 RECEPTOR; TUMOR NECROSIS FACTOR ALPHA; VASCULOTROPIN;

AGING; AICARDI GOUTIERES SYNDROME; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE MUTATION; HUMAN; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN STRUCTURE;

ADOLESCENT; AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; BIOLOGICAL MARKERS; CHILD; CHILD, PRESCHOOL; CYTOKINES; FEMALE; HUMANS; INFANT; INFLAMMATION MEDIATORS; MALE; NERVOUS SYSTEM MALFORMATIONS; RETROSPECTIVE STUDIES;

EID: 84876267465     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182872694     Document Type: Article

References (19)

1. Lebon P, Badoual J, Ponsot G, Goutieres F, Hemeury-Cukier F, Aicardi J. Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy. J Neurol Sci 1988;84:201-208.
2. Crow YJ, Livingston JH. Aicardi-Goutieres syndrome: an important Mendelian mimic of congenital infection. Dev Med Child Neurol 2008;50:410-416.
3. Crow YJ, Hayward BE, Parmar R, et al. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus. Nat Genet 2006;38: 917-920.
4. Crow YJ, Leitch A, Hayward BE, et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection. Nat Genet 2006;38:910-916.
5. Rice GI, Bond J, Asipu A, et al. Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response. Nat Genet 2009;41:829-832.
6. Beck-Engeser GB, Eilat D, Wabl M. An autoimmune disease prevented by anti-retroviral drugs. Retrovirology 2011;8:91.
7. van Heteren JT, Rozenberg F, Aronica E, Troost D, Lebon P, Kuijpers TW. Astrocytes produce interferon-alpha and CXCL10, but not IL-6 or CXCL8, in Aicardi-Goutieres syndrome. Glia 2008;56:568-578.
8. Goutieres F, Aicardi J, Barth PG, Lebon P. Aicardi-Goutieres syndrome: an update and results of interferon-alpha studies. Ann Neurol 1998;44:900-907.
9. Rice G, Patrick T, Parmar R, et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 2007;81:713-725.
10. Hua J, Kirou K, Lee C, Crow MK. Functional assay of type I interferon in systemic lupus erythematosus plasma and association with anti-RNA binding protein autoantibodies. Arthritis Rheum 2006;54:1906-1916.
11. Lanzi G, Fazzi E, D'Arrigo S, et al. The natural history of Aicardi-Goutieres syndrome: follow-up of 11 Italian patients. Neurology 2005;64:1621-1624.
12. Lebon P, Meritet JF, Krivine A, Rozenberg F. Interferon and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol 2002; (6 suppl A):A47-A53; discussion A55-48, A77-86.
13. Dimova PS, Mikova OA. Case of Aicardi-Goutieres syndrome with long-lasting increase of cerebrospinal interferon-alpha. J Child Neurol 2005;20:915-919.
14. McKenna HJ, Stocking KL, Miller RE, et al. Mice lacking flt3 ligand have deficient hematopoiesis affecting hematopoietic progenitor cells, dendritic cells, and natural killer cells. Blood 2000;95:3489-3497.
15. Gilad R, Lampl Y, Eshel Y, Barak V, Sarova-Pinhas I. Cerebrospinal fluid soluble interleukin-2 receptor in cerebral lupus. Br J Rheumatol 1997;36:190-193.
16. Zaheer A, Zaheer S, Sahu SK, et al. A novel role of glia maturation factor: induction of granulocyte-macrophage colony-stimulating factor and pro-inflammatory cytokines. J Neurochem 2007;101:364-376.
17. Caruso C, Candore G, Cigna D, Colucci AT, Modica MA. Biological significance of soluble IL-2 receptor. Mediators Inflamm 1993;2:3-21.
18. Aziz N, Nishanian P, Fahey JL. Levels of cytokines and immune activation markers in plasma in human immunodeficiency virus infection: quality control procedures. Clin Diagn Lab Immunol 1998;5:755-761.
19. Bien E, Rapala M, Krawczyk M, Balcerska A. The serum levels of soluble interleukin-2 receptor alpha and lactate dehydrogenase but not of B2-microglobulin correlate with selected clinico-pathological prognostic factors and response to therapy in childhood soft tissue sarcomas. J Cancer Res Clin Oncol 2010;136:293-305.