Deficiency of the interleukin-1–receptor antagonist explained

Deficiency of the interleukin-1–receptor antagonist
Synonyms:Interleukin 1 receptor antagonist deficiency
Field:Immunology
Symptoms:Joint pain
Causes:Mutations in IL1RN gene
Diagnosis:Genetic test, Radiological findings
Treatment:Colchicine

Deficiency of the interleukin-1–receptor antagonist (DIRA) is an autosomal recessive, genetic autoinflammatory syndrome resulting from mutations in IL1RN, the gene encoding the interleukin 1 receptor antagonist.[1] [2] [3]

Symptoms and signs

DIRA displays a constellation of serious symptoms which include respiratory distress, as well as the following:[4] [2]

Cause

Those 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]

Mechanism

The 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]

Diagnosis

Those 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]

Treatment

In 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.[10] [11]

See also

Further reading

External links

Notes and References

  1. Web site: Autoinflammatory Diseases. Liaison. Janet Austin, Office of Communications and Public. www.niams.nih.gov. en. 2017-06-11. 2017-04-21.
  2. Web site: OMIM Entry - # 612852 - OSTEOMYELITIS, STERILE MULTIFOCAL, WITH PERIOSTITIS AND PUSTULOSIS; OMPP. omim.org. en-us. 2017-06-11.
  3. Web site: Osteomyelitis, sterile multifocal, with periostitis and pustulosis - Conditions - GTR - NCBI. www.ncbi.nlm.nih.gov. en. 2017-06-11.
  4. Web site: Deficiency of interleukin-1 receptor antagonist Genetic and Rare Diseases Information Center (GARD) – an NCATS Program. rarediseases.info.nih.gov. en. 2017-06-11.
  5. Web site: OMIM Entry - * 147679 - INTERLEUKIN 1 RECEPTOR ANTAGONIST; IL1RN. omim.org. en-us. 2017-06-21.
  6. Web site: IL1RN gene. Reference. Genetics Home. Genetics Home Reference. en. 2017-06-12.
  7. Book: Primary Immunodeficiency Diseases: Definition, Diagnosis, and Management. Rezaei. Nima. Aghamohammadi. Asghar. Notarangelo. Luigi D.. 2016-11-30. Springer. 410. 9783662529096. en.
  8. Book: Rook's Textbook of Dermatology. Griffiths. Christopher. Barker. Jonathan. Bleiker. Tanya. Chalmers. Robert. Creamer. Daniel. 2016-02-29. John Wiley & Sons. 45–7. 9781118441176. en.
  9. Ter Haar. Nienke. Lachmann. Helen. Özen. Seza. Woo. Pat. Uziel. Yosef. Modesto. Consuelo. Koné-Paut. Isabelle. Cantarini. Luca. Insalaco. Antonella. May 2013. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Annals of the Rheumatic Diseases. 72. 5. 678–685. 10.1136/annrheumdis-2011-201268. 1468-2060. 22753383. 2318/120618. 9558024. free.
  10. Book: Nelson Textbook of Pediatrics: The field of pediatrics. 2016. Elsevier Health Sciences. 9781455775668. 1203. 22 June 2017. en.
  11. Pazyar. N. Feily. A. Yaghoobi. R. An overview of interleukin-1 receptor antagonist, anakinra, in the treatment of cutaneous diseases.. Current Clinical Pharmacology. November 2012. 7. 4. 271–5. 22794157. 2212-3938. 10.2174/157488412803305821. subscription required

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