| Variable intrafamilial expressivity of the rare tumor necrosis factor-receptor associated periodic syndrome-associated mutation I170N that affects the TNFR1A cleavage site. | |
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MedLine Citation:
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PMID: 20169391 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on a 33-year-old female patient with a relatively mild clinical case of TNF-receptor associated periodic syndrome (TRAPS) and her 58-year-old father in whom end-stage renal disease due to TRAPS-related AA-amyloidosis has already developed. TRAPS was caused by a I170N mutation that has previously not been associated with amyloidosis. It remains unclear if an only mildly affected patient such as ours would benefit from treatment considering her father's severe course of disease. The relevant literature on this problem is reviewed. |
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Authors:
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Petra Lehmann; Bernd Salzberger; Peter Haerle; Ivona Aksentijevich; Daniel Kastner; Juergen Schoelmerich; Stephanie Rosenfeld; Ulf Mueller-Ladner |
Publication Detail:
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Type: Case Reports; Journal Article Date: 2010-02-19 |
Journal Detail:
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Title: Modern rheumatology / the Japan Rheumatism Association Volume: 20 ISSN: 1439-7609 ISO Abbreviation: Mod Rheumatol Publication Date: 2010 Jun |
Date Detail:
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Created Date: 2010-06-07 Completed Date: 2010-09-13 Revised Date: 2011-07-28 |
Medline Journal Info:
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Nlm Unique ID: 100959226 Medline TA: Mod Rheumatol Country: Japan |
Other Details:
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Languages: eng Pagination: 311-5 Citation Subset: IM |
Affiliation:
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University Clinic of Regensburg, Regensburg, Germany. petra.lehmann@klinik.uni-regensburg.de |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Amyloidosis / genetics, immunology Female Hereditary Autoinflammatory Diseases / genetics*, immunology Humans Kidney Failure, Chronic / genetics, immunology Mutation Receptors, Tumor Necrosis Factor, Type I / genetics*, immunology |
| Grant Support | |
ID/Acronym/Agency:
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Z01 AR041083-18/AR/NIAMS NIH HHS; Z01 AR041083-19/AR/NIAMS NIH HHS; Z01 AR041123-09/AR/NIAMS NIH HHS; Z01 AR041123-10/AR/NIAMS NIH HHS; Z01 AR041138-06/AR/NIAMS NIH HHS; Z01 AR041139-05/AR/NIAMS NIH HHS; Z01 AR041139-06/AR/NIAMS NIH HHS; Z01 AR041153-04/AR/NIAMS NIH HHS; Z01 AR041170-01/AR/NIAMS NIH HHS; Z01 AR041176-01/AR/NIAMS NIH HHS; Z01 AR041180-01/AR/NIAMS NIH HHS; ZIA AR041083-20/AR/NIAMS NIH HHS; ZIA AR041123-11/AR/NIAMS NIH HHS; ZIA AR041138-07/AR/NIAMS NIH HHS; ZIA AR041139-07/AR/NIAMS NIH HHS; ZIA AR041153-05/AR/NIAMS NIH HHS; ZIA AR041162-02/AR/NIAMS NIH HHS; ZIA AR041170-02/AR/NIAMS NIH HHS; ZIA AR041185-01/AR/NIAMS NIH HHS; ZID AR041180-02/AR/NIAMS NIH HHS; ZIE AR041176-02/AR/NIAMS NIH HHS |
| Chemical | |
Reg. No./Substance:
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0/Receptors, Tumor Necrosis Factor, Type I |
| Comments/Corrections | |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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