Katariina Nurmi, Kristiina Silventoinen, Salla Keskitalo, Kristiina Rajamäki, Vesa-Petteri Kouri, Matias Kinnunen, Sami Jalil, Rocio Maldonado, Kirmo Wartiovaara, Elma Inés Nievas, Silvina Paola Denita-Juárez, Christopher J A Duncan, Outi Kuismin, Janna Saarela, Inka Romo, Timi Martelius, Jukka Parantainen, Arzu Beklen, Marcelina Bilicka, Sampsa Matikainen, Dan C Nordström, Meri Kaustio, Ulla Wartiovaara-Kautto, Outi Kilpivaara, Christoph Klein, Fabian Hauck, Tiina Jahkola, Timo Hautala, Markku Varjosalo, Goncalo Barreto, Mikko R J Seppänen, Kari K Eklund
In monogenic autoinflammatory diseases, mutations in genes regulating innate immune responses often lead to uncontrolled activation of inflammasome pathways or the type I interferon (IFN-I) response. We describe a mechanism of autoinflammation potentially predisposing patients to life-threatening necrotizing soft tissue inflammation. Six unrelated families are identified in which affected members present with necrotizing fasciitis or severe soft tissue inflammations. Exome sequencing reveals truncating monoallelic loss-of-function variants of nuclear factor κ light-chain enhancer of activated B cells (NFKB1) in affected patients...
April 3, 2024: Cell reports medicine