Haploinsufficiency of A20 caused by a novel nonsense variant or entire deletion of TNFAIP3 is clinically distinct from Behçet’s disease

BACKGROUND: Haploinsufficiency of A20 (HA20) is caused by loss-of-function TNFAIP3 variants. Phenotypic and genetic features of HA20 remain uncertain; therefore, the clinical distinction between HA20 and Behçet’s disease (BD) requires clarification. METHODS: We have collected 12 Japanese BD-like fam...

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Detalles Bibliográficos
Autores principales: Tsuchida, Naomi, Kirino, Yohei, Soejima, Yutaro, Onodera, Masafumi, Arai, Katsuhiro, Tamura, Eiichiro, Ishikawa, Takashi, Kawai, Toshinao, Uchiyama, Toru, Nomura, Shigeru, Kobayashi, Daisuke, Taguri, Masataka, Mitsuhashi, Satomi, Mizuguchi, Takeshi, Takata, Atsushi, Miyake, Noriko, Nakajima, Hideaki, Miyatake, Satoko, Matsumoto, Naomichi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549368/
https://www.ncbi.nlm.nih.gov/pubmed/31164164
http://dx.doi.org/10.1186/s13075-019-1928-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549368/
https://www.ncbi.nlm.nih.gov/pubmed/31164164
http://dx.doi.org/10.1186/s13075-019-1928-5

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