Article
A de novo dominant-negative variant is associated with OTULIN-related autoinflammatory syndrome.
The Journal of experimental medicine - 3 Jun 2024
Takeda Yukiko, Ueki Masahiro, Matsuhiro Junpei, Walinda Erik, Tanaka Takayuki, Yamada Masafumi, Fujita Hiroaki, Takezaki Shunichiro, Kobayashi Ichiro, Tamaki Sakura, Nagata Sanae, Miyake Noriko, Matsumoto Naomichi, Osawa Mitsujiro, Yasumi Takahiro, Heike Toshio, Ohtake Fumiaki, Saito Megumu K, Toguchida Junya, Takita Junko, Ariga Tadashi, Iwai Kazuhiro
Abstract excerpt
OTULIN-related autoinflammatory syndrome (ORAS), a severe autoinflammatory disease, is caused by biallelic pathogenic variants of OTULIN, a linear ubiquitin-specific deubiquitinating enzyme. Loss of OTULIN attenuates linear ubiquitination by inhibiting the linear ubiquitin chain assembly complex (LUBAC). Here, we report a patient who harbors two rare heterozygous variants of OTULIN (p.P152L and p.R306Q). We...
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