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A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant

Lookup NU author(s): Rokas Navickas, Dr Helen GriffinORCiD, Dr Manisha AhujaORCiD, Angela GraingerORCiD, Professor Mary Slatter, Professor Sophie HambletonORCiD

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This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).

Publication metadata

Author(s): Stremenova Spegarova J, Sinnappurajar P, Al Julandani D, Navickas R, Griffin H, Ahuja M, Grainger A, Livingstone K, Rice GI, Sutherland F, Hayes C, Parke S, Pang L, Roderick MR, Slatter M, Crow Y, Ramanan AV, Hambleton S

Publication type: Article

Publication status: Published

Journal: Journal of Clinical Investigation

Year: 2024

Volume: 134

Issue: 13

Print publication date: 01/07/2024

Online publication date: 16/05/2024

Acceptance date: 07/05/2024

Date deposited: 29/05/2024

ISSN (print): 0021-9738

ISSN (electronic): 1558-8238

Publisher: American Society for Clinical Investigation

URL: https://doi.org/10.1172/JCI179193

DOI: 10.1172/JCI179193

Data Access Statement: Supplemental material is available alongside the publication on the publisher's page: https://www.jci.org/articles/view/179193#sd

PubMed id: 38753439

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Funding

Funder referenceFunder name
ANR France (ANR-23-CE15-0015-02)
ANR France (ANR-10-IAHU-01)
European Research Council (786142 ET1IFNs)
MRC
MRC UK (core grant, MC_UU_00035/11)
Wellcome (award number 207556_Z_17_A)
Wellcome Trust

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