Associated Papers
Dysregulation of inflammasomes in autoinflammatory diseases.
Hou C et al.
Joint Bone Spine, 2025
Somatic Mosaic NLRC4 Variants in Autoinflammatory Diseases: Functional Characterization and Correlation of Mosaicism Levels with Disease Age of Onset and Severity.
Diab F et al.
Journal of Clinical Immunology, 2025
Three cases of autoinflammatory disease with novel NLRC4 mutations, and the first mutation reported in the CARD domain of NLRC4 associated with autoinflammatory infantile enterocolitis (AIFEC).
Asna Ashari K et al.
Pediatric Rheumatology Online Journal, 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
Divergent functional outcomes of NLRP3 blockade downstream of multi-inflammasome activation: therapeutic implications for ALS.
Clénet ML et al.
Frontiers in Immunology, 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
First Description of Late-Onset Autoinflammatory Disease Due to Somatic NLRC4 Mosaicism.
Ionescu D et al.
Arthritis & Rheumatology (hoboken, N.j.), 2022
Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus.
Steiner A et al.
Journal of Clinical Immunology, 2022
Improving Diagnosis and Clinical Management of Acquired Systemic Autoinflammatory Diseases.
Al-Hakim A et al.
Journal of Inflammation Research, 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
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
Single-Center Overview of Pediatric Monogenic Autoinflammatory Diseases in the Past Decade: A Summary and Beyond.
Wang W et al.
Frontiers in Immunology, 2020
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 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
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
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