Activity
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6 actions
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| Disorders of immune dysregulation v1.1 | PACSIN1 | Zornitza Stark Marked gene: PACSIN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.1 | PACSIN1 | Zornitza Stark Gene: pacsin1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.1 | PACSIN1 | Zornitza Stark Classified gene: PACSIN1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.1 | PACSIN1 | Zornitza Stark Gene: pacsin1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.0 | PACSIN1 | Zornitza Stark reviewed gene: PACSIN1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disorders of immune dysregulation v1.0 | PACSIN1 |
Natasha Brown gene: PACSIN1 was added gene: PACSIN1 was added to Disorders of immune dysregulation. Sources: Literature Mode of inheritance for gene: PACSIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PACSIN1 were set to 36622335 Phenotypes for gene: PACSIN1 were set to systemic lupus erythematosis; vasculitis; nephritis Penetrance for gene: PACSIN1 were set to unknown Review for gene: PACSIN1 was set to AMBER Added comment: PMID: 36622335 One patient denovo novel missense Q59K, severe infantile SLE, with functional validation Results: We established that PACSIN1 forms a trimolecular complex with tumor necrosis factor receptor-associated factor 4 (TRAF4) and TRAF6 that is important for the regulation of type I IFN. The Q59K mutation in PACSIN1 augments binding to neural Wiskott-Aldrich syndrome protein while it decreases binding to TRAF4, leading to unrestrained TRAF6-mediated activation of type I IFN. Intriguingly, PACSIN1 Q59K increased TLR-7 but not TLR-9 signaling in human cells, leading to elevated expression of IFNβ and IFN-inducible genes. Untreated SLE patients had high PACSIN1 expression in peripheral blood cells that correlated positively with IFN-related genes. Introduction of the Pacsin1 Q59K mutation into mice caused increased surface TLR-7 and TRAIL expression in B cells Sources: Literature |
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