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| content:aicardi-goutieres_syndrome [2022/04/30 11:54] – changed pubmed syntax administrator@icnapedia.org | content:aicardi-goutieres_syndrome [2024/03/23 07:05] (current) – [Aicardi-Goutières syndrome] biju.hameed@gmail.com |
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| ====== Aicardi-Goutières syndrome ====== | ====== Aicardi-Goutières syndrome ====== |
| | <label type="info">AGS is distinct from the similarly named [[content:aicardi_syndrome|Aicardi syndrome]] (characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities</label> |
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| Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy characterized by the inappropriate induction of a type I interferon-mediated immune response and usually results in severe cognitive and physical morbidities. It is named after [[icnapedia>explore/articles/biographies/entry/2015/10/01/professor-jean-aicardi-1926-2015|Jean Aicardi]] and [[Francois Goutières]] who first described the condition in 1984[(:cite:PMID6712192>{{pmid>long:6712192}})] in patients who had presented with early onset encephalopathy, basal ganglia calcification, and persistent lymphocytosis in the cerebrospinal fluid. The condition has subsequently been shown to be both genotypically and clinically heterogenous. | Aicardi-Goutieres syndrome (AGS) is a genetic encephalopathy characterized by the inappropriate induction of a type I interferon-mediated immune response and usually results in severe cognitive and physical morbidities. It is named after [[icnapedia>explore/articles/biographies/entry/2015/10/01/professor-jean-aicardi-1926-2015|Jean Aicardi]] and [[Francois Goutières]] who first described the condition in 1984[(:cite:PMID6712192>{{pmid>long:6712192}})] in patients who had presented with early onset encephalopathy, basal ganglia calcification, and persistent lymphocytosis in the cerebrospinal fluid. The condition has subsequently been shown to be both genotypically and clinically heterogenous. |
| ===== Clinical features ===== | ===== Clinical features ===== |
| ~~REFNOTES cite~~ | ~~REFNOTES cite~~ |
| {{tag>Aicardi–Goutières_syndrome, interferonopathies}} | {{tag>Aicardi–Goutières_syndrome, interferonopathies}} |
| <label type="info">AGS is distinct from the similarly named [[content:aicardi_syndrome|Aicardi syndrome]] (characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities</label> | |
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