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

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Authors: Jarmila Stremenova Spegarova, Praisoody Sinnappurajar, Dalila Al Julandani, Rokas Navickas, Helen Griffin, Manisha Ahuja, Angela Grainger, Katie Livingstone, Gillian I. Rice, Fraser Sutherland, Corinne Hayes, Simon Parke, Lewis Pang, Marion R. Roderick, Mary Slatter, Yanick Crow, Athimalaipet V. Ramanan, Sophie Hambleton

Journal title: Journal of Clinical Investigation

Journal number: 134

Journal publisher: American Society for Clinical Investigation

Published year: 2024

DOI identifier: 10.1172/jci179193

ISSN: 0021-9738