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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Detalles Bibliográficos
Autores principales: Lawless, Dylan, Pathak, Shelly, Scambler, Thomas Edward, Ouboussad, Lylia, Anwar, Rashida, Savic, Sinisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2018
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039542/
https://www.ncbi.nlm.nih.gov/pubmed/30022980
http://dx.doi.org/10.3389/fimmu.2018.01527

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039542/
https://www.ncbi.nlm.nih.gov/pubmed/30022980
http://dx.doi.org/10.3389/fimmu.2018.01527

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