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Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA)

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References

  1. Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med. 2009;360(23):2426–37. https://doi.org/10.1056/NEJMoa0807865.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  2. Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U, et al. An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med. 2009;360(23):2438–44. https://doi.org/10.1056/NEJMoa0809568.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  3. Jacques C, Gosset M, Berenbaum F, Gabay C. The role of IL-1 and IL-1Ra in joint inflammation and cartilage degradation. Vitam Horm. 2006;74:371–403. https://doi.org/10.1016/S0083-6729(06)74016-X.

    Article  PubMed  CAS  Google Scholar 

  4. Manthiram K, Zhou Q, Aksentijevich I, Kastner DL. The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation. Nat Immunol. 2017;18(8):832–42. https://doi.org/10.1038/ni.3777.

    Article  PubMed  CAS  Google Scholar 

  5. Jesus AA, Osman M, Silva CA, Kim PW, Pham TH, Gadina M, et al. A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil. Arthritis Rheum. 2011;63(12):4007–17. https://doi.org/10.1002/art.30588.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  6. Stenerson M, Dufendach K, Aksentijevich I, Brady J, Austin J, Reed AM. The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist. Arthritis Rheum. 2011;63(12):4018–22. https://doi.org/10.1002/art.30565.

    Article  PubMed  CAS  Google Scholar 

  7. Minkis K, Aksentijevich I, Goldbach-Mansky R, Magro C, Scott R, Davis JG, et al. Interleukin 1 receptor antagonist deficiency presenting as infantile pustulosis mimicking infantile pustular psoriasis. Arch Dermatol. 2012;148(6):747–52. https://doi.org/10.1001/archdermatol.2011.3208.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  8. Brau-Javier CN, Gonzales-Chavez J, Toro JR. Chronic cutaneous pustulosis due to a 175-kb deletion on chromosome 2q13: excellent response to anakinra. Arch Dermatol. 2012;148(3):301–4. https://doi.org/10.1001/archdermatol.2011.2857.

    Article  PubMed  Google Scholar 

  9. Altiok E, Aksoy F, Perk Y, Taylan F, Kim PW, Ilikkan B, et al. A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset. Clin Immunol. 2012;145(1):77–81. https://doi.org/10.1016/j.clim.2012.08.003.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  10. Sakran W, Shalev SA, Sakran W, Shalev SA, El-Shanti H, Uziel Y, et al. Chronic recurrent multifocal osteomyelitis and deficiency of interleukin-1-receptor antagonist. Pediatr Infect Dis J. 2013;32(1):94. https://doi.org/10.1097/INF.0b013e3182700cc1.

    Article  PubMed  Google Scholar 

  11. Schnellbacher C, Ciocca G, Menendez R, Aksentijevich I, Goldbach-Mansky R, Duarte AM, et al. Deficiency of interleukin-1 receptor antagonist responsive to anakinra. Pediatr Dermatol. 2013;30(6):758–60. https://doi.org/10.1111/j.1525-1470.2012.01725.x.

    Article  PubMed  Google Scholar 

  12. Ulusoy E, Karaca NE, El-Shanti H, Kilicoglu E, Aksu G, Kutukculer N. Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report. J Med Case Rep. 2015;9:145. https://doi.org/10.1186/s13256-015-0618-4.

    Article  PubMed  PubMed Central  Google Scholar 

  13. Mendonca LO, Malle L, Donovan FX, Chandrasekharappa SC, Montealegre Sanchez GA, Garg M, et al. Deficiency of Interleukin-1 receptor antagonist (DIRA): report of the first Indian patient and a novel deletion affecting IL1RN. J Clin Immunol. 2017;37(5):445–51. https://doi.org/10.1007/s10875-017-0399-1.

    Article  PubMed  CAS  Google Scholar 

  14. Vahidnezhad H, Youssefian L, Jazayeri A, Uitto J. Research techniques made simple: genome-wide homozygosity/autozygosity mapping is a powerful tool to identify candidate genes in autosomal recessive genetic diseases. J Invest Dermatol. 2018;138:1893–900. https://doi.org/10.1016/j.jid.2018.06.170.

    Article  PubMed  CAS  Google Scholar 

  15. Vahidnezhad H, Youssefian L, Saeidian AH, Zeinali S, Abiri M, Sotoudeh S, et al. Genome-wide single nucleotide polymorphism-based autozygosity mapping facilitates identification of mutations in consanguineous families with epidermolysis bullosa. Exp Derm. 2019;28(10):1118–21. https://doi.org/10.1111/exd.13501.

    Article  PubMed  CAS  Google Scholar 

  16. Vahidnezhad H, Youssefian L, Saeidian AH, Touati A, Pajouhanfar S, Baghdadi T, et al. Mutations in PLOD3, encoding lysyl hydroxylase 3, cause syndromic recessive dystrophic epidermolyis bullosa-like phenotype with abnormal anchoring fibrils and deficiency in type VII collagen. Matrix Biol. 2019;81:91–106.

    Article  CAS  Google Scholar 

  17. Youssefian L, Vahidnezhad H, Saeidian AH, Pajouhanfar S, Sotoudeh S, Mansouri P, et al. Inherited non-alcoholic fatty liver disease and dyslipidemia due to monoallelic ABHD5 mutations. J Hepatol. 2019;71(2):366-370, https://doi.org/10.1016/j.jhep.2019.03.026

  18. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24. https://doi.org/10.1038/gim.2015.30.

    Article  PubMed  PubMed Central  Google Scholar 

  19. Sims JE, Smith DE. The IL-1 family: regulators of immunity. Nat Rev Immunol. 2010;10(2):89–102. https://doi.org/10.1038/nri2691.

    Article  PubMed  CAS  Google Scholar 

  20. Garlanda C, Dinarello CA, Mantovani A. The interleukin-1 family: back to the future. Immunity. 2013;39(6):1003–18. https://doi.org/10.1016/j.immuni.2013.11.010.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  21. Vila AT, Puig L, Fernandez-Figueras MT, Laiz AM, Vidal D, Alomar A. Adverse cutaneous reactions to anakinra in patients with rheumatoid arthritis: clinicopathological study of five patients. Br J Dermatol. 2005;153(2):417–23. https://doi.org/10.1111/j.1365-2133.2005.06635.x.

    Article  PubMed  CAS  Google Scholar 

  22. Soyyigit S, Kendirlinan R, Aydin O, Celik GE. Successful desensitization with anakinra in a case with immediate hypersensitivity reaction. Ann Allergy Asthma Immunol. 2014;113(3):325–6. https://doi.org/10.1016/j.anai.2014.06.017.

    Article  PubMed  Google Scholar 

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Acknowledgements

This study was supported by DEBRA International. Carol Kelly assisted in manuscript preparation. The authors thank Dr. Sara Pajouhanfar for clinical consulting.

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Correspondence to Hassan Vahidnezhad or Jouni Uitto.

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This study was approved by the Institutional Review Board of Pasteur Institute of Tehran. The parents of patients gave their written informed consent to participate in this research project and gave their permission to publish their image.

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The authors declare that they have no conflict of interest.

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Ziaee, V., Youssefian, L., Faghankhani, M. et al. Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA). J Clin Immunol 40, 637–642 (2020). https://doi.org/10.1007/s10875-020-00767-w

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