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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 BHSc, 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

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Last Reviewed:01/04/2022
Last Updated:01/06/2022
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Emergency: requires immediate attention
Deficiency of interleukin-1 receptor antagonist
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Deficiency of interleukin-1 receptor antagonist
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