Varaico: Literature-Extracted Genetic Variants

Gene:IL1RN
Variant:p.Q54*
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IL1RN

NM_173842.3:p.Q54*

Associated Papers

Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist.

Urbaneja E et al.

Frontiers in Immunology, 2024

Autoinflammatory Keratinization Diseases-The Concept, Pathophysiology, and Clinical Implications.

Blicharz L et al.

Clinical Reviews in Allergy & Immunology, 2023

A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA).

Mendonça LO et al.

Pediatric Rheumatology Online Journal, 2020

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

Martorana D et al.

Frontiers in Immunology, 2017

Working the endless puzzle of hereditary autoinflammatory disorders.

Caso F et al.

Modern Rheumatology, 2014

Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers.

Sharma M et al.

Current Opinion in Rheumatology, 2013

Current understanding of the pathogenesis and management of chronic recurrent multifocal osteomyelitis.

Ferguson PJ et al.

Current Rheumatology Reports, 2012

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.

Aksentijevich I et al.

The New England Journal of Medicine, 2009

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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."