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| Vasculitis v0.74 | LYN |
Seb Lunke changed review comment from: Three unrelated individuals from described with three distinct de novo variants in LYN, p.Y508*, p.Q507* and a missense variant, p.Y508F. The PTC variants do not cause NMD, and all three variants have been shown to result in constitutively active LYN kinase by preventing inhibitory phosphorylation of the Y508 regulatory tyrosine. Extensive functional data to confirm gain-of-function effect was presented. Patient presented perinatally with immunological symptoms, including diffuse purpuric skin lesions, fever, and increased C-reactive protein (CRP). mild anemia, mild leukocytosis, moderate to severe thrombocytopenia. The patients with PTC were more severe, developing liver fibrosis and signs of cirrhosis. All three patients responded to various degrees to treatment with src kinase inhibitors, dasatinib, etanercept and/or colchicine. Authors named the condition Lyn kinase-associated vasculopathy and liver fibrosis (LAVLI); to: Three unrelated individuals from described with three distinct de novo variants in LYN, p.Y508*, p.Q507* and a missense variant, p.Y508F. The PTC variants do not cause NMD, and all three variants have been shown to result in constitutively active LYN kinase by preventing inhibitory phosphorylation of the Y508 regulatory tyrosine. Extensive functional data to confirm gain-of-function effect was presented. Patient presented perinatally with immunological symptoms, including diffuse purpuric skin lesions, fever, and increased C-reactive protein (CRP). mild anemia, mild leukocytosis, moderate to severe thrombocytopenia. The patients with PTC were more severe, developing liver fibrosis and signs of cirrhosis. All three patients responded to various degrees to treatment with src kinase inhibitors, dasatinib, etanercept and/or colchicine. Authors named the condition Lyn kinase-associated vasculopathy and liver fibrosis (LAVLI). A fourth patient with a Tyr508His has also been described and presented with since birth with recurrent fever, chronic urticaria, atopic dermatitis, arthralgia, increased inflammatory biomarkers, and elevated plasma cytokine levels. Other features not consistent with LYN disease were attributed to prematurity (following maternal HELLP syndrome) and potentially other genetic factors. |
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| Vasculitis v0.0 | TTR |
Zornitza Stark gene: TTR was added gene: TTR was added to Vasculitis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TTR was set to Unknown |
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