The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist

Matthew Stenerson, Kevin Dufendach, Ivona Aksentijevich, Jillian Brady, Jared Austin, Ann M. Reed

Research output: Contribution to journalArticle

35 Citations (Scopus)

Abstract

Interleukin-1 receptor antagonist (IL-1Ra) deficiency is a rare autoinflammatory disease involving neonatal onset of pustulosis, periostitis, and sterile osteomyelitis. We report the case of a 2-week-old male who presented with a swollen, erythematous left index finger and elevated serum markers of inflammation. He later developed cyclical fevers, diffuse pustular skin lesions, and thrombus formation. After not responding to broad-spectrum antimicrobial therapy and achieving only moderate success with systemic steroid therapy, he was ultimately treated with recombinant IL-1Ra, anakinra, and experienced significant clinical improvement. Sequencing of his IL1RN gene revealed that the patient was compound heterozygous for a known mutation (E77X) associated with IL-1Ra deficiency and a novel mutation in exon 2 of the gene (c.140delC; p.T47TfsX4). His case highlights IL-1Ra deficiency as an autoinflammatory disease that is distinct from neonatal-onset multisystem inflammatory disease but that also responds well to anakinra. Our patient is the first reported compound heterozygote for E77X and the novel mutation in exon 2 of the gene, the latter of which adds to what will surely be a growing database of pathologic mutations in IL1RN.

Original languageEnglish (US)
Pages (from-to)4018-4022
Number of pages5
JournalArthritis and Rheumatism
Volume63
Issue number12
DOIs
StatePublished - Dec 2011

Fingerprint

Interleukin 1 Receptor Antagonist Protein
Mutation
Exons
Cryopyrin-Associated Periodic Syndromes
Periostitis
Genes
Interleukin-1 Receptors
Osteomyelitis
Heterozygote
Rare Diseases
Fingers
Thrombosis
Fever
Biomarkers
Steroids
Databases
Inflammation
Skin
Deficiency of interleukin-1 receptor antagonist
Therapeutics

ASJC Scopus subject areas

  • Immunology
  • Immunology and Allergy
  • Rheumatology
  • Pharmacology (medical)

Cite this

The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist. / Stenerson, Matthew; Dufendach, Kevin; Aksentijevich, Ivona; Brady, Jillian; Austin, Jared; Reed, Ann M.

In: Arthritis and Rheumatism, Vol. 63, No. 12, 12.2011, p. 4018-4022.

Research output: Contribution to journalArticle

Stenerson, M, Dufendach, K, Aksentijevich, I, Brady, J, Austin, J & Reed, AM 2011, 'The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist', Arthritis and Rheumatism, vol. 63, no. 12, pp. 4018-4022. https://doi.org/10.1002/art.30565
Stenerson, Matthew ; Dufendach, Kevin ; Aksentijevich, Ivona ; Brady, Jillian ; Austin, Jared ; Reed, Ann M. / The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist. In: Arthritis and Rheumatism. 2011 ; Vol. 63, No. 12. pp. 4018-4022.
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