The neonatal form of Aicardi-Goutières syndrome masquerading as congenital infection

Early Human Development

Volumn 84, Issue 12, 2008, Pages 783-785

  Jepps, H ^a   Seal, S ^a   Hattingh, L ^a   Crow, Y J ^b  

^a BRADFORD ROYAL INFIRMARY   (United Kingdom)

^b UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

Aicardi Gouti res syndrome; Intracranial calcification; Neonatal thrombocytopenia; TORCH

Indexed keywords

DNA; RNA;

AICARDI GOUTIERES SYNDROME; ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL INFECTION; DIFFERENTIAL DIAGNOSIS; GENE; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; INFANT; MALE; NEWBORN; NUCLEIC ACID METABOLISM; PATHOPHYSIOLOGY; TREX1 GENE; VIGNETTE;

DIAGNOSIS, DIFFERENTIAL; ENCEPHALITIS, VIRAL; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; INFANT; INFANT, NEWBORN; MALE; PHENOTYPE; PROTEINS; SYNDROME; TOMOGRAPHY, X-RAY COMPUTED;

EID: 54949131283     PISSN: 03783782     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.earlhumdev.2008.09.001     Document Type: Article

References (9)

1. Stephenson J.B.P. Aicardi-Goutières syndrome (AGS). Eur J Paediatr neurol 12 (2008) 355-358
2. Crow Y.J., and Livingston J.H. Aicardi-Goutières syndrome. Dev Med Child Neurol 50 (2008) 410-416
3. Aicardi J., and Goutières F. A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 15 (1984) 49-54
4. Lebon P., Badoual J., Ponsot G., Goutieres F., Hemeury-Cukier F., and Aicardi J. Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy. J Neurol Sci 84 (1988) 201-208
5. Pichlmair A., and Reis e Sousa C. Innate recognition of viruses. Immunity 27 (2007) 370-383
6. Crow Y.J., Hayward B.E., 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 38 (2006) 917-920
7. Crow Y.J., Leitch A., Hayward B.E., et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet 38 (2006) 910-916
8. Yang Y.G., Lindahl T., and Barnes D.E. Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. Cell 131 (2007) 873-886
9. Rice G.I., Patrick T., Parmar R., et al. Clinical and molecular phenotype of Aicardi-Goutières syndrome. Am J Hum Genet 81 (2007) 713-725