A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant
Jarmila Stremenova Spegarova, … , Athimalaipet V. Ramanan, Sophie Hambleton
Jarmila Stremenova Spegarova, … , Athimalaipet V. Ramanan, Sophie Hambleton
Published May 16, 2024
Citation Information: J Clin Invest. 2024;134(13):e179193. https://doi.org/10.1172/JCI179193.
View: Text | PDF
Research Letter Autoimmunity Immunology

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

Abstract

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

×

Full Text PDF | Download (899.66 KB)