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