Article
Immune dysregulation in Alagille syndrome: A new feature of the evolving phenotype.
Clinics and research in hepatology and gastroenterology - 1 Oct 2015
Tilib Shamoun S, Le Friec G, Spinner N, Kemper C, Baker A J
Abstract excerpt
Alagille syndrome (ALGS) is a rare autosomal dominant, multi-system disease caused by mutations in one of two NOTCH signaling pathway genes. Mutations in JAG1 are found in more than 94% of patients, with associated Jagged1 defects. We previously showed that CD46, which is a complement and immune regulator, regulates NOTCH expression during T cell activation after binding to C3b/C4b. We have identified 25% of our...
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