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

Frontiers in immunology - 1 Jan 2024

Urbaneja Elena, Bonet Nuria, Solis-Moruno Manuel, Mensa-Vilaro Anna, de Landazuri Iñaki Ortiz, Tormo Marc, Lara Rocio, Plaza Susana, Fabregat Virginia, Yagüe Jordi, Casals Ferran, Arostegui Juan I

Abstract excerpt

Undiagnosed monogenic diseases represent a challenging group of human conditions highly suspicious to have a genetic origin, but without conclusive evidences about it. We identified two brothers born prematurely from a non-consanguineous healthy couple, with a neonatal-onset, chronic disease characterized by severe skin and bone inflammatory manifestations and a fatal outcome in infancy. We conducted DNA and mRNA...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38646532
DOI: 10.3389/fimmu.2024.1381447
PMCID: PMC11026629

Genes

IL1RN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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Case report: Novel compound heterozygous IL1RN mutations as the likely cause of a lethal form of deficiency of interleukin-1 receptor antagonist.PMID 38646532Read ↗

Deficiency of Interleukin-1 Receptor Antagonist Due to Novel IL1RN Pathogenic Variants: A 40 Year-Long Journey Until Its DiagnosisSemantic proximity Read ↗

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The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist.Semantic proximity Read ↗

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