1. Johnson AF, Nguyen HT, Veitia RA. Causes and effects of haploinsufficiency. Biol Rev Camb Philos Soc. 2019; 94(5):1774–1785. PMID:
31149781.
Article
2. Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y, et al. Loss-of-function mutations in
TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet. 2016; 48(1):67–73. PMID:
26642243.
3. Aeschlimann FA, Laxer RM. Haploinsufficiency of A20 and other paediatric inflammatory disorders with mucosal involvement. Curr Opin Rheumatol. 2018; 30(5):506–513. PMID:
29916847.
Article
4. Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 2010; 26(5):589–595. PMID:
20080505.
Article
5. McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The genome analysis toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010; 20(9):1297–1303. PMID:
20644199.
Article
6. McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GR, Thormann A, et al. The ensembl variant effect predictor. Genome Biol. 2016; 17(1):122. PMID:
27268795.
Article
7. Liu X, Wu C, Li C, Boerwinkle E. dbNSFP v3.0: a one-stop database of functional predictions and annotations for human nonsynonymous and splice-site SNVs. Hum Mutat. 2016; 37(3):235–241. PMID:
26555599.
Article
8. Martinez-Quiles N, Goldbach-Mansky R. Updates on autoinflammatory diseases. Curr Opin Immunol. 2018; 55:97–105. PMID:
30453204.
Article
9. Davidson S, Steiner A, Harapas CR, Masters SL. An update on autoinflammatory diseases: interferonopathies. Curr Rheumatol Rep. 2018; 20(7):38. PMID:
29846818.
Article
10. Harapas CR, Steiner A, Davidson S, Masters SL. An update on autoinflammatory diseases: inflammasomopathies. Curr Rheumatol Rep. 2018; 20(7):40. PMID:
29846819.
Article
11. Berteau F, Rouvière B, Nau A, Le Berre R, Sarrabay G, Touitou I, et al. A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease. Ann Rheum Dis. 2019; 78(5):e35. PMID:
29549169.
Article
12. Chu Y, Vahl JC, Kumar D, Heger K, Bertossi A, Wójtowicz E, et al. B cells lacking the tumor suppressor
TNFAIP3/A20 display impaired differentiation and hyperactivation and cause inflammation and autoimmunity in aged mice. Blood. 2011; 117(7):2227–2236. PMID:
21088135.
13. Hövelmeyer N, Reissig S, Xuan NT, Adams-Quack P, Lukas D, Nikolaev A, et al. A20 deficiency in B cells enhances B-cell proliferation and results in the development of autoantibodies. Eur J Immunol. 2011; 41(3):595–601. PMID:
21341261.
Article
14. Vanoni F, Lava SAG, Fossali EF, Cavalli R, Simonetti GD, Bianchetti MG, et al. Neonatal systemic lupus erythematosus syndrome: a comprehensive review. Clin Rev Allergy Immunol. 2017; 53(3):469–476. PMID:
29116459.
Article
15. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med. 2013; 369(16):1502–1511. PMID:
24088041.
Article
16. Berteau F, Rouviere B, Delluc A, Nau A, Le Berre R, Sarrabay G, et al. Autosomic dominant familial Behçet disease and haploinsufficiency A20: a review of the literature. Autoimmun Rev. 2018; 17(8):809–815. PMID:
29890348.
Article