Article
Familial chilblain lupus due to a gain-of-function mutation in STING.
Annals of the rheumatic diseases - 1 Feb 2017
König Nadja, Fiehn Christoph, Wolf Christine, Schuster Max, Cura Costa Emanuel, Tüngler Victoria, Alvarez Hugo Ariel, Chara Osvaldo, Engel Kerstin, Goldbach-Mansky Raphaela, Günther Claudia, Lee-Kirsch Min Ae
Abstract excerpt
OBJECTIVES: Familial chilblain lupus is a monogenic form of cutaneous lupus erythematosus caused by loss-of-function mutations in the nucleases TREX1 or SAMHD1. In a family without TREX1 or SAMHD1 mutation, we sought to determine the causative gene and the underlying disease pathology. METHODS: Exome sequencing was used for disease gene identification. Structural analysis was performed by homology modelling and...
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