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Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 4/2020

01-05-2020 | Letter to Editor

The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation

Authors: Kunihiko Moriya, Saori Kadowaki, Tomohiro Nakano, Sanem E. Akarcan, Necil Kutukculer, Guzide Aksu, Yoji Sasahara, Shigeo Kure, Hidenori Ohnishi, Jean-Laurent Casanova, Anne Puel, Toshiyuki Fukao

Published in: Journal of Clinical Immunology | Issue 4/2020

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Excerpt

To the Editor, …
Appendix
Available only for authorised users
Literature
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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.CrossRef
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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.CrossRef
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Kutukculer N, Puel A, Eren Akarcan S, Moriya K, Edeer Karaca N, Migaud M, et al. Deficiency of interleukin-1 receptor antagonist: a case with late onset severe inflammatory arthritis, nail psoriasis with onychomycosis and well responsive to adalimumab therapy. Case Rep Immunol. 2019;4:1902817.
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de Jesus AA, Canna SW, Liu Y, Goldbach-Mansky R. Molecular mechanisms in genetically defined autoinflammatory diseases: disorders of amplified danger signaling. Annu Rev Immunol. 2015;33:823–74.CrossRef
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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.CrossRef
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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.CrossRef
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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):3014.CrossRef
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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.CrossRef
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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.CrossRef
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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.CrossRef
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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.CrossRef
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Sözeri B, Gerçeker-Türk B, Yıldız-Atıkan B, Mir S, Berdeli A. A novel mutation of interleukin-1 receptor antagonist (IL1RN) in a DIRA patient from Turkey: diagnosis and treatment. Turk J Pediatr. 2018;60(5):588–92.CrossRef
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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.CrossRef
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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.CrossRef
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Puel A, Reichenbach J, Bustamante J, Ku CL, Feinberg J, Doffinger R, et al. The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation. Am J Hum Genet. 2006;78:691–701.CrossRef
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Metadata
Title
The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation
Authors
Kunihiko Moriya
Saori Kadowaki
Tomohiro Nakano
Sanem E. Akarcan
Necil Kutukculer
Guzide Aksu
Yoji Sasahara
Shigeo Kure
Hidenori Ohnishi
Jean-Laurent Casanova
Anne Puel
Toshiyuki Fukao
Publication date
01-05-2020
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 4/2020
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-020-00770-1

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