MeSH Browser

MeSH Supplementary: Deficiency of interleukin-1 receptor antagonist
Unique ID: C557815
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C557815
Entry Term(s): Deficiency Of Interleukin 1 Receptor Antagonist; Deficiency of interleukin(IL)-1 receptor antagonist; Deficiency of interleukin-1 receptor antagonist (DIRA); Interleukin 1 receptor antagonist deficiency; Osteomyelitis, sterile multifocal, with periostitis and pustulosis
Registry Number: 0
Heading Mapped to: Interleukin 1 Receptor Antagonist Protein; *Hereditary Autoinflammatory Diseases
Frequency: 27
Note: 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 of Entry: 2011/06/24
Revision Date: 2015/08/18

Deficiency of interleukin-1 receptor antagonist MeSH Supplementary Concept Data 2023