Article
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.
The New England journal of medicine - 6 Mar 2014
Navon Elkan Paulina, Pierce Sarah B, Segel Reeval, Walsh Tom, Barash Judith, Padeh Shai, Zlotogorski Abraham, Berkun Yackov, Press Joseph J, Mukamel Masha, Voth Isabel, Hashkes Philip J, Harel Liora, Hoffer Vered, Ling Eduard, Yalcinkaya Fatos, Kasapcopur Ozgur, Lee Ming K, Klevit Rachel E, Renbaum Paul, Weinberg-Shukron Ariella, Sener Elif F, Schormair Barbara, Zeligson Sharon, Marek-Yagel Dina, Strom Tim M, Shohat Mordechai, Singer Amihood, Rubinow Alan, Pras Elon, Winkelmann Juliane, Tekin Mustafa, Anikster Yair, King Mary-Claire, Levy-Lahad Ephrat
Abstract excerpt
BACKGROUND: Polyarteritis nodosa is a systemic necrotizing vasculitis with a pathogenesis that is poorly understood. We identified six families with multiple cases of systemic and cutaneous polyarteritis nodosa, consistent with autosomal recessive inheritance. In most cases, onset of the disease occurred during childhood. METHODS: We carried out exome sequencing in persons from multiply affected families of...
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