| 词条 | Deficiency of the interleukin-1–receptor antagonist |
| 释义 |
| name = Deficiency of the interleukin-1–receptor antagonist | synonyms = | image = PDB 1ilr EBI.jpg | caption = Interleukin-1–receptor antagonist | pronounce = | field = Immunology | symptoms = | complications = | onset = | duration = | types = | causes = Mutations in IL1RN gene[1][2] | risks = | diagnosis = Genetic test, Radiological findings[3][2] | differential = | prevention = | treatment = Colchicine [5] | medication = | prognosis = | frequency = | deaths = }} Deficiency of the interleukin-1–receptor antagonist (DIRA) or interleukin 1 receptor antagonist deficiency is an autosomal recessive, genetic autoinflammatory syndrome resulting from mutations in IL1RN, the gene encoding the interleukin 1 receptor antagonist.[1][2][3] 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, periostitis (inflammation of the membrane surrounding the bones), and pustulosis due to skin inflammation from birth.{{Medical citation needed|date=June 2017}} Symptoms and signsDIRA displays a constellation of serious symptoms which include respiratory distress, as well as the following:[4][2] {{columns-list|colwidth=30em|
}} CauseThose affected with DIRA have inherited (via autosomal recessive manner) mutations in IL1RN,[3][5] a gene that encodes a protein known as interleukin 1 receptor antagonist,[6][3] The cytogenetic location of IL1RN is 2q14.1, while its 2:113,099,364-113,134,015 are the genomic coordinates[5] MechanismThe mechanism of deficiency of the interleukin-1–receptor antagonist affects the normal function of IL1RN gene.The protein produced by IL1RN gene prevents the normal activities of interleukin 1(alpha) and interleukin 1(beta). Therefore, the pathophysiologic immune and inflammatory responses are nullified.[5][6] Interleukin 1 receptor antagonist(IL1RN) has a total of five alleles, of those the (IL1RN*1) and (IL1RN*2) are the most common as the other alleles are seen less than 5 percent.[5] IL-1RN binds to the same cell receptors as the inflammatory protein IL-1, and blocks its inflammatory actions. Without IL-1Ra, the body cannot control systemic inflammation that can be caused by IL-1.[7] DiagnosisThose affected with deficiency of the interleukin-1–receptor antagonist can have diagnosis achieved via noting an increase of erythrocyte sedimentation rate, as well as the following:[8][5]
TreatmentIn terms of treatment a 2013 review indicates that colchicine can be used for DIRA.[9] Additionally there are several other management options such as anakinra, which blocks naturally occurring IL-1, this according to a 2016 pediatric textbook.[10][11] See also
References1. ^{{Cite web|url=https://www.niams.nih.gov/Health_Info/Autoinflammatory/default.asp|title=Autoinflammatory Diseases|last=Liaison|first=Janet Austin, Office of Communications and Public|website=www.niams.nih.gov|language=en|access-date=2017-06-11}} 2. ^1 {{Cite web|url=https://omim.org/entry/612852|title=OMIM Entry - # 612852 - OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS; OMPP|website=omim.org|language=en-us|access-date=2017-06-11}} 3. ^1 2 3 {{Cite web|url=https://www.ncbi.nlm.nih.gov/gtr/conditions/C2748507/|title=Osteomyelitis, sterile multifocal, with periostitis and pustulosis - Conditions - GTR - NCBI|website=www.ncbi.nlm.nih.gov|language=en|access-date=2017-06-11}} 4. ^{{Cite web|url=https://rarediseases.info.nih.gov/diseases/10516/index|title=Deficiency of interleukin-1 receptor antagonist{{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|website=rarediseases.info.nih.gov|language=en|access-date=2017-06-11}} 5. ^1 2 3 4 5 6 {{Cite web|url=https://omim.org/entry/147679|title=OMIM Entry - * 147679 - INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN|website=omim.org|language=en-us|access-date=2017-06-21}} 6. ^1 {{Cite web|url=https://ghr.nlm.nih.gov/gene/IL1RN#conditions|title=IL1RN gene|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2017-06-12}} 7. ^{{Cite book|url=https://books.google.com/?id=VsiiDQAAQBAJ&pg=PA410&lpg=PA410&dq=Osteomyelitis,+sterile+multifocal,+with+periostitis+and+pustulosis+treatment#v=onepage&q=Osteomyelitis,%20sterile%20multifocal,%20with%20periostitis%20and%20pustulosis%20treatment&f=false|title=Primary Immunodeficiency Diseases: Definition, Diagnosis, and Management|last=Rezaei|first=Nima|last2=Aghamohammadi|first2=Asghar|last3=Notarangelo|first3=Luigi D.|date=2016-11-30|publisher=Springer|page=410|isbn=9783662529096|language=en}} 8. ^1 {{Cite book|url=https://books.google.com/?id=EyypCwAAQBAJ&pg=SA45-PA7&dq=Osteomyelitis,+sterile+multifocal,+with+periostitis+and+pustulosis+diagnosis#v=onepage&q=Osteomyelitis,%20sterile%20multifocal,%20with%20periostitis%20and%20pustulosis%20diagnosis&f=false|title=Rook's Textbook of Dermatology|last=Griffiths|first=Christopher|last2=Barker|first2=Jonathan|last3=Bleiker|first3=Tanya|last4=Chalmers|first4=Robert|last5=Creamer|first5=Daniel|date=2016-02-29|publisher=John Wiley & Sons|pages=45–7|isbn=9781118441176|language=en}} 9. ^1 {{Cite journal|last=Ter Haar|first=Nienke|last2=Lachmann|first2=Helen|last3=Özen|first3=Seza|last4=Woo|first4=Pat|last5=Uziel|first5=Yosef|last6=Modesto|first6=Consuelo|last7=Koné-Paut|first7=Isabelle|last8=Cantarini|first8=Luca|last9=Insalaco|first9=Antonella|date=May 2013|title=Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review|journal=Annals of the Rheumatic Diseases|volume=72|issue=5|pages=678–685|doi=10.1136/annrheumdis-2011-201268|issn=1468-2060|pmid=22753383}} 10. ^{{cite book|title=Nelson Textbook of Pediatrics: The field of pediatrics|date=2016|publisher=Elsevier Health Sciences|isbn=9781455775668|page=1203|url=https://books.google.com/?id=mseNCgAAQBAJ&pg=PA1203&dq=Osteomyelitis,+sterile+multifocal,+with+periostitis+and+pustulosis+treatment#v=onepage&q=Osteomyelitis%2C%20sterile%20multifocal%2C%20with%20periostitis%20and%20pustulosis%20treatment&f=false|accessdate=22 June 2017|language=en}} 11. ^{{cite journal|last1=Pazyar|first1=N|last2=Feily|first2=A|last3=Yaghoobi|first3=R|title=An overview of interleukin-1 receptor antagonist, anakinra, in the treatment of cutaneous diseases.|journal=Current Clinical Pharmacology|date=November 2012|volume=7|issue=4|pages=271–5|pmid=22794157|issn=2212-3938}}subscription required Further reading
External links{{Medical resources| DiseasesDB = | ICD10 = | ICD9 = | ICDO = | OMIM = 612852 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | Orphanet = 210115 }}
2 : Autoinflammatory syndromes|Rare diseases |
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