Varaico: Literature-Extracted Genetic Variants

Gene:NLRC4
Variant:p.T337S
Back to variants list

NLRC4

NM_001199138.2:p.T337S

Associated Papers

An animal model of NLRC4-associated autoinflammation and infantile enterocolitis reveals novel therapeutic strategies.

Wang Y et al.

Cellular & Molecular Immunology, 2025

Dysregulation of inflammasomes in autoinflammatory diseases.

Hou C et al.

Joint Bone Spine, 2025

NLRC4, inflammation and colorectal cancer (Review).

Tong G et al.

International Journal of Oncology, 2024

Human NLRC4 expression promotes cancer survival and associates with type I interferon signaling and immune infiltration.

Domblides C et al.

The Journal of Clinical Investigation, 2024

Genetics of Primary Hemophagocytic Lymphohistiocytosis.

Karageorgos S et al.

Advances in Experimental Medicine and Biology, 2024

Early-onset recurrent panniculitis as a phenotype of NLRC4-associated autoinflammatory syndrome: Characterization of pathogenicity of the p.Ser445Pro NLRC4 variant.

Gil-Lianes J et al.

The Australasian Journal of Dermatology, 2023

The autoinflammation-associated NLRC4V341A mutation increases microbiota-independent IL-18 production but does not recapitulate human autoinflammatory symptoms in mice.

Eeckhout E et al.

Frontiers in Immunology, 2023

Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies.

Lin B et al.

The Journal of Allergy and Clinical Immunology, 2022

NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood.

Bardet J et al.

Journal of Clinical Medicine, 2021

A Novel Mutation in the NBD Domain of NLRC4 Causes Mild Autoinflammation With Recurrent Urticaria.

Wang L et al.

Frontiers in Immunology, 2021

ATP-Binding and Hydrolysis in Inflammasome Activation.

Sandall CF et al.

Molecules (basel, Switzerland), 2020

NLRC4 biology in immunity and inflammation.

Andrade WA et al.

Journal of Leukocyte Biology, 2020

Human Autoinflammatory Diseases Mediated by NLRP3-, Pyrin-, NLRP1-, and NLRC4-Inflammasome Dysregulation Updates on Diagnosis, Treatment, and the Respective Roles of IL-1 and IL-18.

Alehashemi S et al.

Frontiers in Immunology, 2020

HSC70 regulates cold-induced caspase-1 hyperactivation by an autoinflammation-causing mutant of cytoplasmic immune receptor NLRC4.

Raghawan AK et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Autoinflammation with Infantile Enterocolitis Associated with Recurrent Perianal Abscesses.

Siahanidou T et al.

Journal of Clinical Immunology, 2019

Autoinflammatory mutation in NLRC4 reveals a leucine-rich repeat (LRR)-LRR oligomerization interface.

Moghaddas F et al.

The Journal of Allergy and Clinical Immunology, 2018

An Update on Autoinflammatory Diseases: Inflammasomopathies.

Harapas CR et al.

Current Rheumatology Reports, 2018

Novel aspects of the assembly and activation of inflammasomes with focus on the NLRC4 inflammasome.

Fusco WG et al.

International Immunology, 2018

Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome.

Weiss ES et al.

Blood, 2018

Rapamycin as an Adjunctive Therapy for NLRC4 Associated Macrophage Activation Syndrome.

Barsalou J et al.

Frontiers in Immunology, 2018

NLRC4 inflammasomopathies.

Romberg N et al.

Current Opinion in Allergy and Clinical Immunology, 2017

A clinical update on inflammasomopathies.

Sönmez HE et al.

International Immunology, 2017

Genomics, Biology, and Human Illness: Advances in the Monogenic Autoinflammatory Diseases.

Oda H et al.

Rheumatic Diseases Clinics of North America, 2017

Identification of a High-Frequency Somatic NLRC4 Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection.

Kawasaki Y et al.

Arthritis & Rheumatology (hoboken, N.j.), 2017

A Disease-associated Mutant of NLRC4 Shows Enhanced Interaction with SUG1 Leading to Constitutive FADD-dependent Caspase-8 Activation and Cell Death.

Raghawan AK et al.

The Journal of Biological Chemistry, 2017

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Martorana D et al.

Frontiers in Immunology, 2017

Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years.

Aksentijevich I

Seminars in Immunopathology, 2015

Regulation of inflammasome activation.

Man SM et al.

Immunological Reviews, 2015

Autoinflammation: NLRC4 mutation causes rare autoinflammatory disease.

Bernard NJ

Nature Reviews. Rheumatology, 2014

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.

Canna SW et al.

Nature Genetics, 2014

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation.

Romberg N et al.

Nature Genetics, 2014

NLRC4 gets out of control.

Khameneh HJ et al.

Nature Genetics, 2014

Novel NLRC4 Mutation Causes a Syndrome of Perinatal Autoinflammation With Hemophagocytic Lymphohistiocytosis, Hepatosplenomegaly, Fetal Thrombotic Vasculopathy, and Congenital Anemia and Ascites.

Liang J et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0

Genetics of Inflammasomes.

da Silva WC et al.

Experientia Supplementum (2012), 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."