Identification of an A20 critical region harboring missense variations that lead to autoinflammation
Elma El Khouri, Farah Diab, Camille Louvrier, Eman Assrawi, Aphrodite Daskalopoulou, Alexandre Nguyen, William Piterboth, Samuel Deshayes, Alexandra Desdoits, Bruno Copin, F. Moal, Sonia‐Athina Karabina, Serge Amselem, Achille Aouba, Irina Giurgea
The paper identifies a critical region in the A20 OTU domain containing missense variations that cause autoinflammation by disrupting NF-κB inhibition.
eLife · Jun 6, 2023Peer-reviewedGenetics