Article
A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease.
Annals of the rheumatic diseases - 1 May 2018
Aeschlimann Florence A, Batu Ezgi D, Canna Scott W, Go Ellen, Gül Ahmet, Hoffmann Patrycja, Leavis Helen L, Ozen Seza, Schwartz Daniella M, Stone Deborah L, van Royen-Kerkof Annet, Kastner Daniel L, Aksentijevich Ivona, Laxer Ronald M
Abstract excerpt
OBJECTIVES: The association between mutations in TNFAIP3, encoding the NF-kB regulatory protein A20, and a new autoinflammatory disease has recently been recognised. This study aims at describing the clinical phenotypes and disease course of patients with A20 haploinsufficiency (HA20). METHODS: Data for all cases from the initial publication, and additional cases identified through collaborations since, were...
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