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

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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Bibliographic Details
Main Authors: Dylan Lawless, Shelly Pathak, Thomas Edward Scambler, Lylia Ouboussad, Rashida Anwar, Sinisa Savic
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-07-01
Series:Frontiers in Immunology
Subjects:
TNFAIP3
A20
AOSD
tocilizumab
autoinflammatory
Online Access:https://www.frontiersin.org/article/10.3389/fimmu.2018.01527/full

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