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A20 Haploinsufficiency: A Systematic Review of 177 Cases

Inès Elhani1,2,3,4,7, Quentin Riller5,7, Guilaine Boursier3,6, Ve ́ronique Hentgen3,4, Frédéric Rieux-Laucat5 and Sophie Georgin-Lavialle1,2,3


A20 Haploinsufficiency: A Systematic Review of 177 Cases


A20 haploinsufficiency is an autoinflammatory disease caused by defective inactivation of the NF-kB pathway. We conducted a systematic literature review of articles reporting patients with TNFAIP3 sequence variants from 2016 to August 2023 following PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analyses) guidelines. Data from 177 patients from 65 articles were retrieved (108 women). The principal features were mucosal ulcers (n 1⁄4 129); fever (n 1⁄4 93) followed by gastrointestinal (n 1⁄4 81); skin features (n 1⁄4 76); autoim- munity (n 1⁄4 61), including thyroiditis (n 1⁄4 25) and lupus (n 1⁄4 16); and joint involvements (n 1⁄4 54). Five patients had died at the time of publication. In 54 of 63 patients, CRP was significantly elevated during flares, with a median of 51 mg/l. The most commonly used treatment included corticosteroids and nonsteroidal anti- inflammatory drugs (n 1⁄4 32), TNF blockers (n 1⁄4 29), colchicine (n 1⁄4 28), and methotrexate (n 1⁄4 14). TNFAIP3 variants impacted the ovarian tumor domain in 92 cases and a Zinc finger domain in 68 cases. Geographic origin, reported sex, and variant type significantly impacted phenotype. A better understanding of the wide A20 haploinsufficiency phenotype could facilitate the diagnosis process. Much remains to be elucidated about pathogenesis and treatment to improve outcome in patients with A20 haploinsufficiency.

Keywords: A20 haploinsufficiency, Autoimmunity, Autoinflammatory disease, TNFAIP3

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