Varaico: Literature-Extracted Genetic Variants

Gene:NLRC4
Variant:p.S445P
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NLRC4

NM_001199138.2:p.S445P

Associated Papers

Dysregulation of inflammasomes in autoinflammatory diseases.

Hou C et al.

Joint Bone Spine, 2025

Insights into the multifaceted role of interleukin-37 on human immune cell regulation.

Teufel LU et al.

Clinical Immunology (orlando, Fla.), 2024

NLRC4, inflammation and colorectal cancer (Review).

Tong G et al.

International Journal of Oncology, 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

First Description of Late-Onset Autoinflammatory Disease Due to Somatic NLRC4 Mosaicism.

Ionescu D et al.

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

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

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.

Arts P et al.

Genome Medicine, 2019

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

Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype.

Volker-Touw CM et al.

The British Journal of Dermatology, 2017

Novel Gene Deletion in NLRC4 Expanding the Familial Cold Inflammatory Syndrome Phenotype.

Jeskey J et al.

Allergy & Rhinology (providence, R.i.), 0

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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."