Article
A Family With A20 Haploinsufficiency Presenting With Novel Clinical Manifestations and Challenges for Treatment.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases - 1 Dec 2021
Hautala Timo, Vähäsalo Paula, Kuismin Outi, Keskitalo Salla, Rajamäki Kristiina, Väänänen Antti, Simojoki Marja, Säily Marjaana, Pelkonen Ilpo, Tokola Heikki, Mäkinen Markus, Kaarteenaho Riitta, Jartti Airi, Hautala Nina, Kantola Saara, Jackson Päivi, Glumoff Virpi, Saarela Janna, Varjosalo Markku, Eklund Kari K, Seppänen Mikko R J
Abstract excerpt
BACKGROUND: Tumor necrosis factor α-induced protein 3 gene (TNFAIP3, also called A20) haploinsufficiency (HA20) leads to autoinflammation and autoimmunity. We have recently shown that a p.(Lys91*) mutation in A20 disrupts nuclear factor κB signaling, impairs protein-protein interactions of A20, and leads to inflammasome activation. METHODS: We now describe the clinical presentations and drug responses in a family...
Topics
Join the communities discussing this publication.