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Deficiency of interleukin-1 receptor antagonist [Supplementary Concept]

A hereditary autosomal recessive autoinflammatory disease caused by a deficiency in the interleukin-1 receptor antagonist protein due to mutations in the IL1RN gene. It is characterized by FETAL DISTRESS at delivery and multiple abnormalities affecting the LIVER; SPLEEN; SKIN; BONES and JOINTS. OMIM: 612852

Date introduced: June 24, 2011

MeSH Unique ID: C557815

Heading Mapped to:

Entry Terms:

  • Deficiency of interleukin-1 receptor antagonist (DIRA)
  • Deficiency Of Interleukin 1 Receptor Antagonist
  • Interleukin 1 receptor antagonist deficiency
  • Deficiency of interleukin(IL)-1 receptor antagonist
  • Osteomyelitis, sterile multifocal, with periostitis and pustulosis

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