KEGG   DISEASE: Interleukin 1 receptor antagonist deficiency (DIRA)
Entry
H01275                      Disease                                

Name
Interleukin 1 receptor antagonist deficiency (DIRA);
Multifocal osteomyelitis with periostitis and pustulosis (OMPP)
Description
Interleukin 1 receptor antagonist deficiency (DIRA) is a rare autosomal recessive autoinflammatory disease caused by mutations in IL1RN. The absence of interleukin 1 receptor (IL-1R) antagonist allows unopposed action of IL-1, resulting in life threatening systemic inflammation with skin and bone involvement.
Category
Immune system disease
Brite
Human diseases [BR:br08402]
 Immune system diseases
  Allergies and autoimmune diseases
   H01275  Interleukin 1 receptor antagonist deficiency (DIRA)
Related
pathway
hsa04060  Cytokine-cytokine receptor interaction
Gene
IL1RN [HSA:3557] [KO:K05481]
Other DBs
MeSH: C557815
OMIM: 612852
Reference
  Authors
Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgard U, Cowen EW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El-Shanti HI, Pope E, Barron K, Bing X, Laurence A, Lee CC, Chapelle D, Clarke GI, Ohson K, Nicholson M, Gadina M, Yang B, Korman BD, Gregersen PK, van Hagen PM, Hak AE, Huizing M, Rahman P, Douek DC, Remmers EF, Kastner DL, Goldbach-Mansky R
  Title
An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.
  Journal
N Engl J Med 360:2426-37 (2009)
DOI:10.1056/NEJMoa0807865
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