Aicardi-Goutieres Syndrome

Common Name(s)

Aicardi-Goutieres Syndrome

Aicardi-Goutieres syndrome is an inherited condition that mainly affects the brain, immune system, and skin. It is characterized by early-onset severe brain dysfunction (encephalopathy) that usually results in severe intellectual and physical disability. Additional symptoms may include epilepsy, painful, itchy skin lesion (chilblains), vision problems, and joint stiffness. Symptoms usually progress over several months before the disease course stabilizes. There are six different types of Aicardi-Goutieres syndrome, which are distinguished by the gene that causes the condition: TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR genes.  Most cases are inherited in an autosomal recessive pattern, although rare autosomal dominant cases have been reported. Treatment is symptomatic and supportive.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Aicardi-Goutieres Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Aicardi-Goutieres Syndrome" returned 47 free, full-text research articles on human participants. First 3 results:

Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Goutières syndrome.
 

Author(s): Yoong Wearn Lim, Lionel A Sanz, Xiaoqin Xu, Stella R Hartono, Frédéric Chédin

Journal:

 

Aicardi-Goutières syndrome (AGS) is a severe childhood inflammatory disorder that shows clinical and genetic overlap with systemic lupus erythematosus (SLE). AGS is thought to arise from the accumulation of incompletely metabolized endogenous nucleic acid species owing to mutations ...

Last Updated: 7 Aug 2015

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Phenotypic variation in Aicardi-Goutières syndrome explained by cell-specific IFN-stimulated gene response and cytokine release.
 

Author(s): Eloy Cuadrado, Iliana Michailidou, Emma J van Bodegraven, Machiel H Jansen, Jacqueline A Sluijs, Dirk Geerts, Pierre-Olivier Couraud, Lidia De Filippis, Angelo L Vescovi, Taco W Kuijpers, Elly M Hol

Journal: J. Immunol.. 2015 Apr;194(8):3623-33.

 

Aicardi-Goutières syndrome (AGS) is a monogenic inflammatory encephalopathy caused by mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, or MDA5. Mutations in those genes affect normal RNA/DNA intracellular metabolism and detection, triggering an autoimmune response ...

Last Updated: 7 Apr 2015

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Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Goutières syndrome.
 

Author(s): Paul R Kasher, Emma M Jenkinson, Valérie Briolat, David Gent, Catherine Morrissey, Leo A H Zeef, Gillian I Rice, Jean-Pierre Levraud, Yanick J Crow

Journal: J. Immunol.. 2015 Mar;194(6):2819-25.

 

In humans, loss of function mutations in the SAMHD1 (AGS5) gene cause a severe form of Aicardi-Goutières syndrome (AGS), an inherited inflammatory-mediated encephalopathy characterized by increased type I IFN activity and upregulation of IFN-stimulated genes (ISGs). In particular, ...

Last Updated: 9 Mar 2015

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Aicardi-Goutieres Syndrome" returned 6 free, full-text review articles on human participants. First 3 results:

Aicardi-Goutières syndrome: a model disease for systemic autoimmunity.
 

Author(s): M A Lee-Kirsch, C Wolf, C Günther

Journal: Clin. Exp. Immunol.. 2014 Jan;175(1):17-24.

 

Systemic autoimmunity is a complex disease process that results from a loss of immunological tolerance characterized by the inability of the immune system to discriminate self from non-self. In patients with the prototypic autoimmune disease systemic lupus erythematosus (SLE), formation ...

Last Updated: 4 Dec 2013

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Mouse models for Aicardi-Goutières syndrome provide clues to the molecular pathogenesis of systemic autoimmunity.
 

Author(s): R Behrendt, A Roers

Journal: Clin. Exp. Immunol.. 2014 Jan;175(1):9-16.

 

Aicardi-Goutières syndrome (AGS) is a hereditary autoimmune disease which overlaps clinically and pathogenetically with systemic lupus erythematosus (SLE), and can be regarded as a monogenic variant of SLE. Both conditions are characterized by chronic activation of anti-viral type ...

Last Updated: 4 Dec 2013

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Therapies in Aicardi-Goutières syndrome.
 

Author(s): Y J Crow, A Vanderver, S Orcesi, T W Kuijpers, G I Rice

Journal: Clin. Exp. Immunol.. 2014 Jan;175(1):1-8.

 

Aicardi-Goutières syndrome (AGS) is a genetically determined disorder, affecting most particularly the brain and the skin, characterized by the inappropriate induction of a type I interferon-mediated immune response. In most, but not all, cases the condition is severe, with a high ...

Last Updated: 4 Dec 2013

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Reverse Transcriptase Inhibitors in AGS
 

Status: Recruiting

Condition Summary: Aicardi-Goutières Syndrome (AGS)

 

Last Updated: 17 May 2016

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