Varaico: Literature-Extracted Genetic Variants

Gene:IL1RN
Variant:p.Q119*
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IL1RN

NM_173842.3:p.Q119*

Associated Papers

Analysis of Anakinra Therapy for the Deficiency of Interleukin-1 Receptor Antagonist through Clinical Evidence.

Pillai K et al.

Journal of Clinical Medicine, 2024

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

Novel mutation in interleukin 1 receptor antagonist associated with chronic diarrhoea in infancy.

Abdwani R et al.

Journal of Paediatrics and Child Health, 2022

Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations.

Carneiro-Sampaio M et al.

Frontiers in Pediatrics, 2022

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

Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report.

Ulusoy E et al.

Journal of Medical Case Reports, 2015

Working the endless puzzle of hereditary autoinflammatory disorders.

Caso F et al.

Modern Rheumatology, 2014

A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset.

Altiok E et al.

Clinical Immunology (orlando, Fla.), 2012

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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."