Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment

25 Oct 2018

Abstract excerpt

Sözeri B, Gerçeker-Türk B, Yıldız-Atıkan B, Mir S, Berdeli A. A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatment. Turk J Pediatr 2018; 60: 588-592. Autoinflammatory diseases can cause severe inflammation in bone and skin such as neonatal-onset multisystem inflammatory disease (NOMID), Majeed syndrome, interleukin-36 receptor antagonist deficiency...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Immune Response and Inflammation
Share to Inflammasome and immune disorders
Share to Osteomyelitis and Bone Disorders Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30968643
DOI: 10.24953/turkjped.2018.05.020

Provenance

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: Diagnosis and treatmentPMID 30968643Read ↗

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

A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil.Semantic proximity Read ↗

Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN.Semantic proximity Read ↗

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

Analysis of Anakinra therapy for the Deficiency of Interleukin-1 Receptor Antagonist through Clinical EvidenceSemantic proximity Read ↗

Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA).Semantic proximity Read ↗

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

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

An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.Semantic proximity Read ↗

Turkish DIRA patient with novel IL1RN gene mutationSemantic proximity Read ↗

New variant in the IL1RN-gene (DIRA) associated with late-onset, CRMO-like presentation.Semantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.