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Janus kinase 1/2 inhibition for the treatment of autoinflammation associated with heterozygous TNFAIP3 mutation

Mulhern, CM; Hong, Y; Omoyinmi, E; Jacques, T; D'Arco, F; Hemingway, C; Brogan, PA; (2019) Janus kinase 1/2 inhibition for the treatment of autoinflammation associated with heterozygous TNFAIP3 mutation. Journal of Allergy and Clinical Immunology , 144 (3) 863-866.e5. 10.1016/j.jaci.2019.05.026. Green open access

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Abstract

We report a case of autoinflammation caused by a heterozygous variant in TNFAIP3 manifesting as progressive neuroinflammation. Mutant A20 protein failed to control interferon-dependent transcription. We demonstrate excellent therapeutic response to Janus kinase inhibition.

Type: Article
Title: Janus kinase 1/2 inhibition for the treatment of autoinflammation associated with heterozygous TNFAIP3 mutation
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.jaci.2019.05.026
Publisher version: https://doi.org/10.1016/j.jaci.2019.05.026
Language: English
Additional information: This is an Open Access article published under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) Licence (https://creativecommons.org/licenses/by-nc-nd/4.0/).
Keywords: TNFAIP3, interferon, janus kinase inhibition
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Inflammation
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Biology and Cancer Dept
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10076003
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