Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences
Emergency: requires immediate attention
Deficiency of interleukin-1 receptor antagonist
Other Resources UpToDate PubMed
Emergency: requires immediate attention

Deficiency of interleukin-1 receptor antagonist

Contributors: Negar Esfandiari MD, Keith Morley MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Deficiency of interleukin-1 receptor antagonist (DIRA) is a life-threatening autoinflammatory disorder that typically manifests at birth or in the early neonatal period, although later onset in infancy and childhood has also been reported. It is characterized by cutaneous pustulosis, multifocal aseptic osteomyelitis, inflammatory arthritis, periostitis, nail abnormalities, and increased levels of acute phase reactant proteins.

DIRA is typically inherited in an autosomal recessive pattern. About one-third of patients with this disease are born prematurely or small for gestational age. DIRA is caused by loss of function mutations in the IL1RN gene, which codes for the interleukin-1-receptor antagonist, with subsequent loss of inhibition of the IL-1 receptor. This in turn causes signal activation by IL-1, leading to downstream systemic inflammation in the skin and bones.

Codes

ICD10CM:
M04.8 – Other autoinflammatory syndromes

SNOMEDCT:
773702002 – Sterile multifocal osteomyelitis with periostitis and pustulosis

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

  • Deficiency of interleukin-36 receptor antagonist (DITRA)
  • Cryopyrin-associated periodic syndromes (FCAS)
  • Majeed syndrome
  • Cryopyrin-associated periodic syndromes
  • Cryopyrin-associated periodic syndromes (NOMID)
  • Generalized pustular psoriasis
  • Acute febrile neutrophilic dermatosis
  • IgA pemphigus
  • Pyogenic arthritis, pyoderma gangrenosum, and acne (PAPA syndrome)
  • Chronic recurrent multifocal osteomyelitis (CRMO)
  • Synovitis, acne, pustulosis, hyperostosis, and osteitis (SAPHO syndrome)

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed:01/04/2022
Last Updated:03/05/2023
Copyright © 2024 VisualDx®. All rights reserved.
Emergency: requires immediate attention
Deficiency of interleukin-1 receptor antagonist
Print  
A medical illustration showing key findings of Deficiency of interleukin-1 receptor antagonist
Copyright © 2024 VisualDx®. All rights reserved.