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| content:aicardi-goutieres_syndrome [2020/02/02 14:17] – [Pathophysiology] icna | content:aicardi-goutieres_syndrome [2020/02/21 07:30] – [References] bijuhameed |
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| Both AGS and many placentally acquired viral infections are characterized by the production of high levels of IFNα. Astrocyte-specific chronic overproduction of IFNα in transgenic mice has been shown to recapitulate the neuropathologic findings seen in AGS[(:cite:9794439>{{pubmed>short:9794439}})]. AGS shows a phenotypic overlap with some aspects of systemic lupus erythematosus (SLE) where an equivalent type I interferon-mediated innate immune response is triggered by self nucleic acids. Current experimental evidence suggests that the nucleases defective in AGS are involved in removing endogenously produced nucleic acid species, and that a failure of this removal results in activation of the immune system[(:cite:19808788>{{pubmed>short:19808788}})]. | Both AGS and many placentally acquired viral infections are characterized by the production of high levels of IFNα. Astrocyte-specific chronic overproduction of IFNα in transgenic mice has been shown to recapitulate the neuropathologic findings seen in AGS[(:cite:9794439>{{pubmed>short:9794439}})]. AGS shows a phenotypic overlap with some aspects of systemic lupus erythematosus (SLE) where an equivalent type I interferon-mediated innate immune response is triggered by self nucleic acids. Current experimental evidence suggests that the nucleases defective in AGS are involved in removing endogenously produced nucleic acid species, and that a failure of this removal results in activation of the immune system[(:cite:19808788>{{pubmed>short:19808788}})]. |
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| The actual pathomechanisms that lead to CNS damage in AGS patients are unknown. In a mouse model transgenic for a glial fibrillary acidic protein-interferon-alpha fusion protein (GFAP-IFN-<m>alpha</m> mice) where IFN <m>alpha</m> is expressed in an astrocyte-restricted fashion, transgenic animals develop a progressive inflammatory encephalopathy with neuropathologic features similar to AGS suggesting a neurotoxic role of IFNα in the developing brain[(:cite:9794439>{{pubmed>short:9794439}})]. | The actual pathomechanisms that lead to CNS damage in AGS patients are unknown. In a mouse model transgenic for a glial fibrillary acidic protein-interferon-alpha fusion protein (GFAP-IFN-<m>alpha</m> mice) where IFN <m>alpha</m> is expressed in an astrocyte-restricted fashion, transgenic animals develop a progressive inflammatory encephalopathy with neuropathologic features similar to AGS suggesting a neurotoxic role of IFN<m>alpha</m> in the developing brain[(:cite:9794439>{{pubmed>short:9794439}})]. |
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| Interferonopathies comprise an expanding group of monogenic diseases characterised by disturbance of the homeostatic control of interferon (IFN)-mediated immune responses[(:cite:29773266>{{pubmed>short:29773266}})]. | Interferonopathies comprise an expanding group of monogenic diseases characterised by disturbance of the homeostatic control of interferon (IFN)-mediated immune responses[(:cite:29773266>{{pubmed>short:29773266}})]. |
| ~~REFNOTES cite~~ | ~~REFNOTES cite~~ |
| {{tag>Aicardi–Goutières_syndrome, interferonopathies}} | {{tag>Aicardi–Goutières_syndrome, interferonopathies}} |
| <label type="info">AGS is distinct from the similarly named Aicardi syndrome (characterized by absence of a brain structure (corpus callosum), and spinal, skeletal, and eye abnormalities</label> | <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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