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An Autoinflammatory...
An Autoinflammatory Disease with Deficiency of the Interleukin-1-Receptor Antagonist
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Aksentijevich, Ivona (author)
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Masters, Seth L. (author)
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Ferguson, Polly J. (author)
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Dancey, Paul (author)
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Frenkel, Joost (author)
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van Royen-Kerkhoff, Annet (author)
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Laxer, Ron (author)
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- Tedgård, Ulf (author)
- Lund University,Lunds universitet,Enheten för pediatrisk hematologi,Forskargrupper vid Lunds universitet,Paediatric Hematologic Research Group,Lund University Research Groups
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Cowen, Edward W. (author)
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Pham, Tuyet-Hang (author)
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Booty, Matthew (author)
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Estes, Jacob D. (author)
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Sandler, Netanya G. (author)
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Plass, Nicole (author)
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Stone, Deborah L. (author)
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Turner, Maria L. (author)
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Hill, Suvimol (author)
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Butman, John A. (author)
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Schneider, Rayfel (author)
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Babyn, Paul (author)
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El-Shanti, Hatem I. (author)
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Pope, Elena (author)
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Barron, Karyl (author)
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Bing, Xinyu (author)
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Laurence, Arian (author)
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Lee, Chyi-Chia R. (author)
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Chapelle, Dawn (author)
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Clarke, Gillian I. (author)
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Ohson, Kamal (author)
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Nicholson, Marc (author)
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Gadina, Massimo (author)
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Yang, Barbara (author)
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Korman, Benjamin D. (author)
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Gregersen, Peter K. (author)
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van Hagen, P. Martin (author)
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Hak, A. Elisabeth (author)
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Huizing, Marjan (author)
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Rahman, Proton (author)
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Douek, Daniel C. (author)
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Remmers, Elaine F. (author)
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Kastner, Daniel L. (author)
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Goldbach-Mansky, Raphaela (author)
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(creator_code:org_t)
- 2009
- 2009
- English.
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In: New England Journal of Medicine. - 0028-4793. ; 360:23, s. 2426-2437
- Related links:
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https://lup.lub.lu.s...
Abstract
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- BACKGROUND Autoinflammatory diseases manifest inflammation without evidence of infection, high-titer autoantibodies, or autoreactive T cells. We report a disorder caused by mutations of IL1RN, which encodes the interleukin-1-receptor antagonist, with prominent involvement of skin and bone. METHODS We studied nine children from six families who had neonatal onset of sterile multifocal osteomyelitis, periostitis, and pustulosis. Response to empirical treatment with the recombinant interleukin-1-receptor antagonist anakinra in the first patient prompted us to test for the presence of mutations and changes in proteins and their function in interleukin-1-pathway genes including IL1RN. RESULTS We identified homozygous mutations of IL1RN in nine affected children, from one family from Newfoundland, Canada, three families from the Netherlands, and one consanguineous family from Lebanon. A nonconsanguineous patient from Puerto Rico was homozygous for a genomic deletion that includes IL1RN and five other interleukin-1-family members. At least three of the mutations are founder mutations; heterozygous carriers were asymptomatic, with no cytokine abnormalities in vitro. The IL1RN mutations resulted in a truncated protein that is not secreted, thereby rendering cells hyperresponsive to interleukin-1 beta stimulation. Patients treated with anakinra responded rapidly. CONCLUSIONS We propose the term deficiency of the interleukin-1-receptor antagonist, or DIRA, to denote this autosomal recessive autoinflammatory disease caused by mutations affecting IL1RN. The absence of interleukin-1-receptor antagonist allows unopposed action of interleukin-1, resulting in life-threatening systemic inflammation with skin and bone involvement. (ClinicalTrials.gov number, NCT00059748.)
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Pediatrik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Pediatrics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Hematologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Hematology (hsv//eng)
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- art (subject category)
- ref (subject category)
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- By the author/editor
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Aksentijevich, I ...
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Masters, Seth L.
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Ferguson, Polly ...
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Dancey, Paul
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Frenkel, Joost
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van Royen-Kerkho ...
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show more...
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Laxer, Ron
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Tedgård, Ulf
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Cowen, Edward W.
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Pham, Tuyet-Hang
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Booty, Matthew
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Estes, Jacob D.
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Sandler, Netanya ...
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Plass, Nicole
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Stone, Deborah L ...
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Turner, Maria L.
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Hill, Suvimol
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Butman, John A.
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Schneider, Rayfe ...
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Babyn, Paul
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El-Shanti, Hatem ...
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Pope, Elena
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Barron, Karyl
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Bing, Xinyu
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Laurence, Arian
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Lee, Chyi-Chia R ...
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Chapelle, Dawn
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Clarke, Gillian ...
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Ohson, Kamal
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Nicholson, Marc
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Gadina, Massimo
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Yang, Barbara
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Korman, Benjamin ...
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Gregersen, Peter ...
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van Hagen, P. Ma ...
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Hak, A. Elisabet ...
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Huizing, Marjan
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Rahman, Proton
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Douek, Daniel C.
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Remmers, Elaine ...
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Kastner, Daniel ...
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Goldbach-Mansky, ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Pediatrics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Hematology
- Articles in the publication
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New England Jour ...
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Lund University