A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome.
Takeda Y, Ueki M, Matsuhiro J, Walinda E, Tanaka T, Yamada M, Fujita H, Takezaki S, Kobayashi I, Tamaki S, Nagata S, Miyake N, Matsumoto N, Osawa M, Yasumi T, Heike T, Ohtake F, Saito MK, Toguchida J, Takita J, Ariga T, Iwai K
J Exp Med. 2024 Jun 3;221(6):e20231941. doi: 10.1084/jem.20231941. Epub 2024 Apr 23.
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