Article
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity.
The Journal of clinical investigation - 1 Nov 2016
Massaad Michel J, Zhou Jia, Tsuchimoto Daisuke, Chou Janet, Jabara Haifa, Janssen Erin, Glauzy Salomé, Olson Brennan G, Morbach Henner, Ohsumi Toshiro K, Schmitz Klaus, Kyriacos Markianos, Kane Jennifer, Torisu Kumiko, Nakabeppu Yusaku, Notarangelo Luigi D, Chouery Eliane, Megarbane Andre, Kang Peter B, Al-Idrissi Eman, Aldhekri Hasan, Meffre Eric, Mizui Masayuki, Tsokos George C, Manis John P, Al-Herz Waleed, Wallace Susan S, Geha Raif S
Abstract excerpt
Alterations in the apoptosis of immune cells have been associated with autoimmunity. Here, we have identified a homozygous missense mutation in the gene encoding the base excision repair enzyme Nei endonuclease VIII-like 3 (NEIL3) that abolished enzymatic activity in 3 siblings from a consanguineous family. The NEIL3 mutation was associated with fatal recurrent infections, severe autoimmunity,...
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