Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Aicardi-Goutières-Syndrom

Aicardi-Goutières-Syndrom ist eine autosomal dominant oder rezessive Erkrankung, die durch Mutationen verschiedener Gene der angeborenen Immunität hervorgerufen wird. Das Aicardi-Goutières-Syndrom ist charakterisiert durch eine subakute Enzephalopathie. Leukodystrophie und einer Lyphozytose der Zerebrospinalflüssigkeit. Meist zeigen sich die Zeichen der zerebralen Degeneration bereits früh nach der Geburt, aber auch mildere Verläufe mit normaler kognitiver Entwicklung sind beschrieben.

Epidemiologie

Die Prävalenz der gesamten Gruppe liegt bei 1-5:10.000.

Gliederung

Interferonopathie
Aicardi-Goutières-Syndrom
Aicardi-Goutières-Syndrom 1
TREX1
Aicardi-Goutières-Syndrom 2
RNASEH2B
Aicardi-Goutières-Syndrom 3
RNASEH2C
Aicardi-Goutières-Syndrom 4
RNASEH2A
Aicardi-Goutières-Syndrom 5
SAMHD1
Aicardi-Goutières-Syndrom 6
ADAR
Aicardi-Goutières-Syndrom 7
IFIH1
Immundefekt 38
Pseudo-TORCH-Syndrom 2
Retinale Vaskulopathie mit zerebraler Leukoenzephalopathie und systemischen Manifestationen
Singleton-Merten-Syndrom
Spondyloenchondrodysplasie mit Immundysregulation
Trichohepatoenterisches Syndrom 2
familiärer Chilblain-Lupus

Referenzen:

1.

Rice GI et al. (2012) Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature.

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2.

Livingston JH et al. (2014) A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1.

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3.

Crow YJ et al. (2014) Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia.

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4.

Sanchis A et al. (2005) Genetic syndromes mimic congenital infections.

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5.

Crow YJ et al. (2006) Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.

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6.

Rice G et al. (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

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7.

Rice GI et al. (2013) Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.

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8.

Crow YJ et al. (2006) Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus.

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9.

Lee-Kirsch MA et al. (2006) Familial chilblain lupus, a monogenic form of cutaneous lupus erythematosus, maps to chromosome 3p.

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10.

Lee-Kirsch MA et al. (2007) Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus.

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11.

Haaxma CA et al. (2010) A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome.

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12.

Cuadrado E et al. (2015) Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.

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13.

Adang LA et al. (2018) Aicardi goutières syndrome is associated with pulmonary hypertension.

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14.

Rice GI et al. (2009) Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response.

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15.

Dale RC et al. (2010) Familial Aicardi-Goutières syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures.

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16.

Leshinsky-Silver E et al. (2011) A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions.

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17.

Rice GI et al. (2014) Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling.

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18.

Oda H et al. (2014) Aicardi-Goutières syndrome is caused by IFIH1 mutations.

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19.

Vogt J et al. (2013) Striking intrafamilial phenotypic variability in Aicardi-Goutières syndrome associated with the recurrent Asian founder mutation in RNASEH2C.

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20.

Ali M et al. (2006) A second locus for Aicardi-Goutieres syndrome at chromosome 13q14-21.

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21.

Black DN et al. (1988) Encephalitis among Cree children in northern Quebec.

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22.

Mehta L et al. (1986) Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.

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23.

Giroud M et al. (1986) A case of progressive familial encephalopathy in infancy with calcification of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.

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24.

Babbitt DP et al. (1969) Idiopathic familial cerebrovascular ferrocalcinosis (Fahr's disease) and review of differential diagnosis of intracranial calcification in children.

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25.

Aicardi J et al. (1984) A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.

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26.

Tolmie JL et al. (1995) The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

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27.

Raymond AA et al. (1996) Brain calcification in patients with cerebral lupus.

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28.

Kumar D et al. (1998) Recognizable inherited syndrome of progressive central nervous system degeneration and generalized intracranial calcification with overlapping phenotype of the syndrome of Aicardi and Goutières.

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29.

McEntagart M et al. (1998) Aicardi-Goutières syndrome: an expanding phenotype.

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30.

Akwa Y et al. (1998) Transgenic expression of IFN-alpha in the central nervous system of mice protects against lethal neurotropic viral infection but induces inflammation and neurodegeneration.

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31.

Goutières F et al. (1998) Aicardi-Goutières syndrome: an update and results of interferon-alpha studies.

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32.

Crow YJ et al. (2000) Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

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33.

Aicardi J et al. (2000) Systemic lupus erythematosus or Aicardi-Goutières syndrome?

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34.

Dale RC et al. (2000) Familial systemic lupus erythematosus and congenital infection-like syndrome.

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35.

Crow YJ et al. (2003) Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism.

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36.

Crow YJ et al. (2004) Congenital glaucoma and brain stem atrophy as features of Aicardi-Goutières syndrome.

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37.

Lanzi G et al. (2005) The natural history of Aicardi-Goutières syndrome: follow-up of 11 Italian patients.

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38.

None (2008) Aicardi-Goutières syndrome (AGS).

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39.

Crow YJ et al. (2009) Aicardi-Goutieres syndrome and related phenotypes: linking nucleic acid metabolism with autoimmunity.

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Update: 17. Oktober 2019