DIRA syndrome

Also known as: Deficiency of interleukin-1 receptor antagonist

Neonatal sterile multifocal osteomyelitis with pustulosis.

Medical specialty: Rheumatology
Subspecialty: Rheumatology / Autoinflammatory disease
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, neonatal
Gene(s) involved: IL1RN

Etiology & mechanism

IL1RN loss.

Gene(s) involved (1)

IL1RN

Symptoms & signs (5)

high inflammatory markersjoint swellingmultifocal osteomyelitisperiostitispustular rash

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.