ALLMedicine™ Aicardi-goutieres Syndrome Center

Feb 7th, 2023 - Three Prime Repair Exonuclease 1 (TREX1) is a major 3'-5' exonuclease in mammalian cells that primarily degrades DNA substrates in the cytoplasm. TREX1 deficiency results in an aberrant accumulation of self-DNA in the cytosol, predominantly activa...

Oct 18th, 2022 - The JAK/STAT axis is implicated in cancer, inflammation, and immunity. Numerous cytokines/growth factors affect JAK/STAT signaling. JAKs (JAK1, JAK2, JAK3, and TYK2) noncovalently associate with cytokine receptors, mediate receptor tyrosine phosph...

Sep 7th, 2022 - Stroke causes significant disability and is a common cause of death worldwide. Previous studies have estimated that 1%-5% of stroke is attributable to monogenic etiologies. We set out to assess the utility of clinical exome sequencing (ES) in the ...

Dec 12th, 2021 - A number of systemic autoinflammatory diseases arise from gain-of-function mutations in genes encoding IL-1-activating inflammasomes or cytoplasmic nucleic acid sensors including the receptor and sensor STING and result in increased IL-1 and type ...

Jul 26th, 2021 - Aicardi-Goutieres Syndrome (AGS) is a heterogeneous genetic syndrome, manifesting early as encephalopathy and is associated with abnormal neurologic findings, hepatosplenomegaly, elevated liver enzymes, thrombocytopenia and intracranial calcificat...