Varaico: Literature-Extracted Genetic Variants

Gene:NLRC4
Variant:p.T177A
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NLRC4

NM_001199138.2:p.T177A

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

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

An updated review on phenocopies of primary immunodeficiency diseases.

Singh A et al.

Genes & Diseases, 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

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

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

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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."