A de novo TLR7 gain-of-function mutation causing severe monogenic lupus in an infant
Jarmila Stremenova Spegarova, Praisoody Sinnappurajar, Dalila Al Julandani, Rokas Navickas, Helen Griffin, Manisha Ahuja, Angela Grainger, Katie Livingstone, Gillian Rice, F Sutherland, Corinne Hayes, Simon Parke, Lewis Pang, Marion Roderick, Mary Slatter, Yanick J. Crow, Athimalaipet V Ramanan, Sophie Hambleton
Abstract
[no abstract]
Topics & Concepts
TLR7Gain of functionSystemic lupus erythematosusMutationMedicineGeneticsBiologyImmunologyInternal medicineImmune systemGeneToll-like receptorDiseaseInnate immune systemImmune Cell Function and InteractionImmunodeficiency and Autoimmune DisordersImmune Response and Inflammation