interleukin 1 receptor antagonist deficiency

Home » Modern Medicine » Immunology » interleukin 1 receptor antagonist deficiency
interleukin 1 receptor antagonist deficiency2016-12-25T07:48:30+00:00

interleukin 1 receptor antagonist deficiency

IMMUNOLOGY

Definition A rare autoinflammatory disorder* (OMIM:612852) of skin and bone, causing sterile multifocal osteomyelitis, periostitis, and pustulosis from birth.

*Autoinflammatory diseases are disorders characterised by attacks of inflammation without increased autoantibodies and autoreactive T-cells.

Molecular pathology Defects of IL1RN, which encodes an interleukin 1 cytokine that modulates various interleukin 1 related immune and inflammatory activities, cause interleukin 1 receptor antagonist deficiency. 

Synonym Osteomyelitis—sterile multifocal—with periostitis and pustulosis

References http://www.uniprot.org/uniprot/P18510
http://www.omim.org/entry/612852

Leave A Comment

This site uses Akismet to reduce spam. Learn how your comment data is processed.