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 51 free, full-text research articles on human participants. First 3 results:

Aicardi-Goutières syndrome protein TREX1 suppresses L1 and maintains genome integrity through exonuclease-independent ORF1p depletion.
 

Author(s): Peng Li, Juan Du, John L Goodier, Jingwei Hou, Jian Kang, Haig H Kazazian, Ke Zhao, Xiao-Fang Yu

Journal: Nucleic Acids Res.. 2017 May;45(8):4619-4631.

 

Maintaining genome integrity is important for cells and damaged DNA triggers autoimmunity. Previous studies have reported that Three-prime repair exonuclease 1(TREX1), an endogenous DNA exonuclease, prevents immune activation by depleting damaged DNA, thus preventing the development ...

Last Updated: 23 Mar 2017

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RNase H2 catalytic core Aicardi-Goutières syndrome-related mutant invokes cGAS-STING innate immune-sensing pathway in mice.
 

Author(s): Vladislav Pokatayev, Naushaba Hasin, Hyongi Chon, Susana M Cerritelli, Kiran Sakhuja, Jerrold M Ward, H Douglas Morris, Nan Yan, Robert J Crouch

Journal: J. Exp. Med.. 2016 Mar;213(3):329-36.

 

The neuroinflammatory autoimmune disease Aicardi-Goutières syndrome (AGS) develops from mutations in genes encoding several nucleotide-processing proteins, including RNase H2. Defective RNase H2 may induce accumulation of self-nucleic acid species that trigger chronic type I interferon ...

Last Updated: 8 Mar 2016

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[Phenotypic variations in Aicardi-Goutieres syndrome caused by RNASEH2B gene mutations: report of two new cases].
 

Author(s): Saturnino Ortiz-Madinaveitia, David Conejo-Moreno, Javier López-Pisón, José Luis Peña-Segura, M Luisa Serrano-Madrid, Ingrid C Durán-Palacios, Pilar Peláez-Cabo

Journal: Rev Neurol. 2016 Feb;62(4):165-9.

 

Aicardi-Goutieres syndrome is a rare immune disorder due to mutations in seven different genes that encode proteins called TREX1, ribonuclease H2 complex, SAMHD1, ADAR and IDIH1 (MDA5), which are involved in acid nucleic metabolism. Two cases are described in detail below caused by ...

Last Updated: 10 Feb 2016

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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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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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Compassionate Use Protocol for the Treatment of Autoinflammatory Syndromes
 

Status: Available

Condition Summary: Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature (CANDLE); Juvenile Dermatomyositis (JDM); Stimulator of Interferon Genes (STING)-Associated Vasculopathy With Onset During Infancy (SAVI); Aicardi-Goutières Syndrome (AGS)

 

Last Updated: 15 Aug 2017

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