Aicardi-goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations

Journal of Child Neurology

Volumn 26, Issue 11, 2011, Pages 1425-1428

  Ramantani, Georgia ^a   Häusler, Martin ^b   Niggemann, Pascal ^c   Wessling, Britta ^b   Guttmann, Hedwig ^d   Mull, Michael ^b   Tenbrock, Klaus ^b   Lee Kirsch, Min Ae ^d  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^c UNIVERSITY HOSPITAL BONN   (Germany)

^d UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

Author keywords

Aicardi Gouti res syndrome (AGS); arthritis; calcifications; leucoencephalopathy; sterile alpha motif domain and HD domain containing protein 1 (SAMHD1); systemic lupus erythematosus (SLE)

Indexed keywords

ALPHA INTERFERON; ANTINUCLEAR ANTIBODY; AZATHIOPRINE; BACLOFEN; DOUBLE STRANDED DNA ANTIBODY; ETANERCEPT; NAPROXEN; NEUTROPHIL CYTOPLASMIC ANTIBODY; PREDNISONE; PROTEIN; STERILE ALPHA MOTIF DOMAIN AND HD DOMAIN CONTAINING PROTEIN 1; TOPIRAMATE; UNCLASSIFIED DRUG;

AICARDI GOUTIERES SYNDROME; ARTHRITIS; ARTICLE; BRAIN ATROPHY; CALCIFICATION; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; DISEASE EXACERBATION; DYSKINESIA; ECHOGRAPHY; ELECTROENCEPHALOGRAM; FEEDING DISORDER; GENE MUTATION; HEPATOMEGALY; HUMAN; HYPERGAMMAGLOBULINEMIA; HYPERSOMNIA; INSOMNIA; IRRITABILITY; JOINT EFFUSION; LEUKOPENIA; LYMPHOCYTE COUNT; MALE; MUSCLE HYPOTONIA; MYOCLONUS SEIZURE; NUCLEAR MAGNETIC RESONANCE IMAGING; OPISTHOTONUS; PRIORITY JOURNAL; PURPURA; SCHOOL CHILD; SWELLING; SYNOVITIS; SYSTEMIC LUPUS ERYTHEMATOSUS; THROMBOCYTOPENIA;

AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM; CHILD; ELECTROENCEPHALOGRAPHY; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MAGNETIC RESONANCE IMAGING; MALE; MONOMERIC GTP-BINDING PROTEINS; MUTATION; NERVOUS SYSTEM MALFORMATIONS;

EID: 80455129268     PISSN: 08830738     EISSN: 17088283     Source Type: Journal    
DOI: 10.1177/0883073811408310     Document Type: Article

References (18)

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 (Pubitemid 14224219)
2. Goutiéres F, Aicardi J, Barth PG, Lebon P. Aicardi- Goutières syndrome: an update and results of interferon-alpha studies. Ann Neurol. 1998 ; 44: 900-907 (Pubitemid 28558251)
3. Crow YJ, Hayward BE, Parmar R, et al. Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. Nat Genet. 2006 ; 38: 917-920 (Pubitemid 44141660)
4. 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. Nat Genet. 2006 ; 38: 910-916 (Pubitemid 44141659)
5. 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: 829-832
6. Ramantani G, Kohlhase J, Hertzberg C, et al. Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. Arthritis Rheum. 2010 ; 62: 1469-1477
7. Ramantani G, Niggemann P, Bast T, Lee-Kirsch M.A. Reconciling neuroimaging and clinical findings in Aicardi-Goutières syndrome: an autoimmune-mediated encephalopathy. AJNR Am J Neuroradiol. 2010 ; 31: E62 - E63
8. Tan EM, Cohen AS, Fries JF, et al. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arthritis Rheum. 1982 ; 25: 1271-1277 (Pubitemid 13221242)
9. Lee-Kirsch MA, Gong M, Schulz H, et al. Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p. Am J Hum Genet. 2006 ; 79: 731-737 (Pubitemid 44452751)
10. Dale RC, Gornall H, Singh-Grewal D, et al. Familial Aicardi- Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures. Am J Med Genet A. 2010 ; 152: 938-942
11. Hill SC, Namde M, Dwyer A, et al. Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA). Pediatr Radiol. 2007 ; 37: 145-152 (Pubitemid 46098444)
12. 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: 235-237
13. Aviv T, Lin Z, Lau S, Rendl LM, Sicheri F, Smibert CA. The RNA-binding SAM domain of Smaug defines a new family of post-transcriptional regulators. Nat Struct Biol. 2003 ; 10: 614-621 (Pubitemid 36944714)
14. Lee-Kirsch MA. Nucleic acid metabolism and systemic autoimmunity revisited. Arthritis Rheum. 2010 ; 62: 1208-1212
15. Lee-Kirsch MA, Chowdhury D, Harvey S, et al. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J Mol Med. 2007 ; 85: 531-537 (Pubitemid 46701663)
16. Richards A, van den Maagdenberg AM, Jen JC, et al. C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. Nat Genet. 2007 ; 39: 1068-1070 (Pubitemid 47340644)
17. Lee-Kirsch MA, Gong M, Chowdhury D, et al. Mutations in the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. Nat Genet. 2007 ; 39: 1065-1067 (Pubitemid 47340647)
18. Sibbitt WL, Sibbitt RR, Brooks WM. Neuroimaging in neuropsychiatric systemic lupus erythematosus. Arthritis Rheum. 1999 ; 42: 2026-2038 (Pubitemid 30263585)