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- Deficiency_of_the_interleukin-1–receptor_antagonist abstract "Deficiency of the interleukin-1–receptor antagonist (DIRA) is a rare, autosomal recessive, genetic autoinflammatory syndrome resulting from mutations in IL1RN, the gene encoding the interleukin 1 receptor antagonist.The mutations result in an abnormal protein that is not secreted, exposing the cells to unopposed interleukin 1 activity. This results in sterile multifocal osteomyelitis (bone inflammation in multiple places), periostitis (inflammation of the membrane surrounding the bones), and pustulosis (due to skin inflammation) from birth.DIRA is a newly discovered autoinflammatory disease. Children with the disorder display a constellation of serious and potentially fatal symptoms that include swelling of bone tissue; bone pain and deformity; inflammation of the periosteum (a layer of connective tissue around bone); and a rash that can span from small individual pustules to extensive pustulosis that covers most of the patient’s body. Most of the children begin to have symptoms from birth to 2 weeks of age.Children with DIRA have inherited mutations in IL1RN, a gene that encodes a protein known as IL-1 receptor antagonist (IL-1Ra). IL-1Ra binds to the same cell receptors as the inflammatory protein IL-1, and blocks its inflammatory actions. Without IL-1Ra, the children’s bodies cannot control systemic inflammation that can be caused by IL-1. Although mutations that cause DIRA are rare, as many as 2.5 percent of the population of northwest Puerto Rico are carriers. Since DIRA is recessively inherited, these data suggest that it may be present in about 1 in 6,300 births in this population. Mutations may also be more common in individuals of Dutch descent.Most patients with DIRA respond well to anakinra, the same drug previously mentioned for NOMID treatment, a synthetic form of human IL-1Ra.".
- Deficiency_of_the_interleukin-1–receptor_antagonist omim "612852".
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageExternalLink 2426.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageExternalLink 5.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageID "23099268".
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageLength "3046".
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageOutDegree "21".
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageRevisionID "644574884".
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Autoinflammatory_syndrome.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Autosomal_recessive.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Category:Autoinflammatory_syndromes.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Category:Rare_diseases.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Dominance_(genetics).
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Gene.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Genetic_disorder.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink IL1RN.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Inflammation.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Interleukin_1.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Interleukin_1_family.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Interleukin_1_receptor_antagonist.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Multifocal.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Mutation.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink N_Engl_J_Med.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Neonatal_onset_multisystem_inflammatory_disease.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Osteomyelitis.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Periodic_fever_syndrome.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Periostitis.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Progressive_lens.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Protein.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Pustulosis.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Rare_disease.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Skin.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink Sterilization_(microbiology).
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLink The_New_England_Journal_of_Medicine.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLinkText "DIRA".
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLinkText "Deficiency of the interleukin-1–receptor antagonist".
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageWikiLinkText "deficiency of the interleukin-1–receptor antagonist".
- Deficiency_of_the_interleukin-1–receptor_antagonist hasPhotoCollection Deficiency_of_the_interleukin-1–receptor_antagonist.
- Deficiency_of_the_interleukin-1–receptor_antagonist name "Deficiency of the interleukin-1–receptor antagonist".
- Deficiency_of_the_interleukin-1–receptor_antagonist omim "612852".
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageUsesTemplate Template:Disease-stub.
- Deficiency_of_the_interleukin-1–receptor_antagonist wikiPageUsesTemplate Template:Infobox_disease.
- Deficiency_of_the_interleukin-1–receptor_antagonist subject Category:Autoinflammatory_syndromes.
- Deficiency_of_the_interleukin-1–receptor_antagonist subject Category:Rare_diseases.
- Deficiency_of_the_interleukin-1–receptor_antagonist type Disease.
- Deficiency_of_the_interleukin-1–receptor_antagonist type Thing.
- Deficiency_of_the_interleukin-1–receptor_antagonist type Q12136.
- Deficiency_of_the_interleukin-1–receptor_antagonist comment "Deficiency of the interleukin-1–receptor antagonist (DIRA) is a rare, autosomal recessive, genetic autoinflammatory syndrome resulting from mutations in IL1RN, the gene encoding the interleukin 1 receptor antagonist.The mutations result in an abnormal protein that is not secreted, exposing the cells to unopposed interleukin 1 activity.".
- Deficiency_of_the_interleukin-1–receptor_antagonist label "Deficiency of the interleukin-1–receptor antagonist".
- Deficiency_of_the_interleukin-1–receptor_antagonist sameAs m.064mnpc.
- Deficiency_of_the_interleukin-1–receptor_antagonist sameAs Q5251548.
- Deficiency_of_the_interleukin-1–receptor_antagonist sameAs Q5251548.
- Deficiency_of_the_interleukin-1–receptor_antagonist wasDerivedFrom Deficiency_of_the_interleukin-1–receptor_antagonist?oldid=644574884.
- Deficiency_of_the_interleukin-1–receptor_antagonist isPrimaryTopicOf Deficiency_of_the_interleukin-1–receptor_antagonist.
- Deficiency_of_the_interleukin-1–receptor_antagonist name "Deficiency of the interleukin-1–receptor antagonist".