Article

Monogenic autoimmunity caused by TLR7 gain-of-function

2021-01-27

Abstract excerpt

<title>Abstract</title> <p>While circumstantial evidence supports enhanced TLR7 signaling as a mechanism of human systemic autoimmune disease, we have lacked the proof afforded by lupus-causing <italic>TLR7</italic> gene variants. Here we describe monogenic human systemic lupus erythematosus (SLE) caused by TLR7 gain-of-function. We identified a <italic>de novo</italic>, novel, missense <italic>TLR7</italic> Y264...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 190a9e3d-e5e9-52ae-a872-f99fe5513f08
DOI: 10.21203/rs.3.rs-152145/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Monogenic autoimmunity caused by TLR7 gain-of-functionDOI 10.21203/rs.3.rs-152145/v1Read

Human and Murine Toll-like Receptor-Driven Disease in Systemic Lupus Erythematosus.Semantic proximity Read

TLR8/TLR7 dysregulation due to a novel TLR8 mutation causes severe autoimmune hemolytic anemia and autoinflammation in identical twins.Semantic proximity Read

A novel <i>UNC93B1</i> gain-of-function mutation leads to TLR7 and TLR8 hyperactivation and systemic lupus erythematosusSemantic proximity Read

Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.Semantic proximity Read

Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosusSemantic proximity Read

For whom the B cells toll.Semantic proximity Read

TLR7 Variants Enhance Responsiveness and Broaden RNA Specificity To Drive Human LupusSemantic proximity Read

B cell-intrinsic TLR7 signaling is essential for the development of spontaneous germinal centers.Semantic proximity Read

MiR-574-5p activates human TLR8 to promote autoimmune signaling and lupusSemantic proximity Read

Genetics of SLE: mechanistic insights from monogenic disease and disease-associated variants.Semantic proximity Read

Innate and adaptive immune abnormalities underlying autoimmune diseases: the genetic connections.Semantic proximity Read

Mendelian Causes of Autoimmunity: the Lupus Phenotype.Semantic proximity Read