A Case of Adult-Onset Still’s Disease Caused by a Novel Splicing Mutation in TNFAIP3 Successfully Treated With Tocilizumab

TNFAIP3 encodes the NF-κB regulatory protein A20. High-penetrance heterozygous mutations in TNFAIP3 cause a haploinsufficiency of A20 (HA20), inadequate inhibition of NF-κB pathway, and an early onset autoinflammatory disorder. However, the clinical phenotype of patients with HA20 varies greatly and...

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Detalhes bibliográficos
Publicado no:Front Immunol
Main Authors: Lawless, Dylan, Pathak, Shelly, Scambler, Thomas Edward, Ouboussad, Lylia, Anwar, Rashida, Savic, Sinisa
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2018
Assuntos:
Immunology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6039542/
https://ncbi.nlm.nih.gov/pubmed/30022980
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2018.01527
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