nach oben

Erschienen in:

13.03.2020 | Letter to Editor

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

verfasst von: Vahid Ziaee, Leila Youssefian, Masoomeh Faghankhani, Ali Jazayeri, Amir Hossein Saeidian, Hassan Vahidnezhad, Jouni Uitto

Erschienen in: Journal of Clinical Immunology | Ausgabe 4/2020

Einloggen, um Zugang zu erhalten

Excerpt

To the Editor: …

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.CrossRefPubMedPubMedCentral

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.CrossRefPubMedPubMedCentral

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.CrossRefPubMed

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.CrossRefPubMed

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.CrossRefPubMedPubMedCentral

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.CrossRefPubMed

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.CrossRefPubMedPubMedCentral

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.CrossRefPubMed

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.CrossRefPubMedPubMedCentral

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.CrossRefPubMed

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.CrossRefPubMed

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.CrossRefPubMedPubMedCentral

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.CrossRefPubMed

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.CrossRefPubMed

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.CrossRefPubMed

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.CrossRef

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.CrossRefPubMedPubMedCentral

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.CrossRefPubMed

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.CrossRefPubMedPubMedCentral

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.CrossRefPubMed

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.CrossRefPubMed

Titel: Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA)
verfasst von: Vahid Ziaee
Leila Youssefian
Masoomeh Faghankhani
Ali Jazayeri
Amir Hossein Saeidian
Hassan Vahidnezhad
Jouni Uitto
Publikationsdatum: 13.03.2020
Verlag: Springer US
Erschienen in: Journal of Clinical Immunology / Ausgabe 4/2020
Print ISSN: 0271-9142
Elektronische ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-020-00767-w

Leitlinien kompakt für die Innere Medizin

Mit medbee Pocketcards sicher entscheiden.

^{Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag}

Kostenlos registrieren

Neu im Fachgebiet Innere Medizin

25.04.2024 | Hypertonie | Nachrichten

Therapiestart mit Blutdrucksenkern erhöht Frakturrisiko

25.04.2024 | Nierenkarzinom | Nachrichten

Adjuvante Immuntherapie verlängert Leben bei RCC

25.04.2024 | NSCLC | Nachrichten

Alectinib verbessert krankheitsfreies Überleben bei ALK-positivem NSCLC

24.04.2024 | DGIM 2024 | Kongressbericht | Nachrichten

Metformin rückt in den Hintergrund

weitere anzeigen

Update Innere Medizin

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Springer Medizin

Excerpt

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 4/2020

BCG-Related Inflammatory Syndromes in Severe Combined Immunodeficiency After TCRαβ+/CD19+ Depleted HSCT

European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management

Health-Related Quality of Life and Multidimensional Fatigue Scale in Children with Primary Immunodeficiencies

Immunological and Clinical Phenotyping in Primary Antibody Deficiencies: a Growing Disease Spectrum

Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation

A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection