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Open Access 01-12-2018 | Letter

Juvenile onset autoinflammatory disease due to a novel mutation in TNFAIP3 (A20)

Authors: Shuzo Sato, Yuya Fujita, Tomonari Shigemura, Hisanori Matoba, Kazunaga Agematsu, Yuya Sumichika, Makiko Yashiro, Atsushi Ono, Yukihiko Kawasaki, Hiroko Kobayashi, Hiroshi Watanabe, Tomohiro Koga, Atsushi Kawakami, Kiyoshi Migita

Published in: Arthritis Research & Therapy | Issue 1/2018

Excerpt

Novel heterozygous C200A A20/TNFAIP3 gene mutation is responsible for autosomal-dominant juvenile onset autoinflammatory disorder. …

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Ma A, Malynn BA. A20: linking a complex regulator of ubiquitylation to immunity and human disease. Nat Rev Immunol. 2012;12(11):774–85.CrossRefPubMedPubMedCentral

Aeschlimann FA, Batu ED, Canna SW, Go E, Gül A, Hoffmann P, et al. A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease. Ann Rheum Dis. 2018;77(5):728–35.CrossRefPubMed

Shigemura T, Kaneko N, Kobayashi N, Kobayashi K, Takeuchi Y, Nakano N, et al. Novel heterozygous C243Y A20/TNFAIP3 gene mutation is responsible for chronic inflammation in autosomal-dominant Behçet's disease. RMD Open. 2016;2(1):e000223.CrossRefPubMedPubMedCentral

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.CrossRefPubMed

Wertz IE, O'Rourke KM, Zhou H, Eby M, Aravind L, Seshagiri S, et al. De-ubiquitination and ubiquitin ligase domains of A20 downregulate NF-kappaB signalling. Nature. 2004;430(7000):694–9.CrossRefPubMed

Kadowaki T, Ohnishi H, Kawamoto N, Hori T, Nishimura K, Kobayashi C, et al. Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders. J Allergy Clin Immunol. 2018;141(4):1485–8.CrossRefPubMed

Duncan CJA, Dinnigan E, Theobald R, Grainger A, Skelton AJ, Hussain R, et al. Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20). Ann Rheum Dis. 2018;77(5):783–6.CrossRefPubMed

Chen ZJ. Ubiquitination in signaling to and activation of IKK. Immunol Rev. 2012;246:95–106.CrossRefPubMedPubMedCentral

Title: Juvenile onset autoinflammatory disease due to a novel mutation in TNFAIP3 (A20)
Authors: Shuzo Sato
Yuya Fujita
Tomonari Shigemura
Hisanori Matoba
Kazunaga Agematsu
Yuya Sumichika
Makiko Yashiro
Atsushi Ono
Yukihiko Kawasaki
Hiroko Kobayashi
Hiroshi Watanabe
Tomohiro Koga
Atsushi Kawakami
Kiyoshi Migita
Publication date: 01-12-2018
Publisher: BioMed Central
Published in: Arthritis Research & Therapy / Issue 1/2018
Electronic ISSN: 1478-6362
DOI: https://doi.org/10.1186/s13075-018-1766-x

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