| A novel mutation in TNFRSF1A associated with overlapping features of tumor necrosis factor receptor-associated periodic syndrome and hyper-IgD syndrome. | |
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MedLine Citation:
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PMID: 20346247 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a 10-year-old child with a novel mutation, c.352A>G/p.Thr118Ala (T89A) in the tumour necrosis factor receptor superfamily 1A (TNFRSF1A) gene. The patient presented with periodic fevers beginning at 2 years of age. He had overlapping clinical and laboratory features of tumour necrosis factor receptor-associated periodic syndrome (TRAPS) and hyper-IgD syndrome (HIDS). This patient expands the clinical and genetic spectrum of TRAPS. |
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Authors:
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F T Saulsbury; E F Remmers; I Aksentijevich |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural |
Journal Detail:
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Title: Clinical and experimental rheumatology Volume: 28 ISSN: 0392-856X ISO Abbreviation: Clin. Exp. Rheumatol. Publication Date: 2010 Jan-Feb |
Date Detail:
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Created Date: 2010-03-29 Completed Date: 2010-05-07 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 8308521 Medline TA: Clin Exp Rheumatol Country: Italy |
Other Details:
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Languages: eng Pagination: 94-6 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, University of Virginia Health System, Charlottesville, Virginia 22908, USA. fts@virginia.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Child Familial Mediterranean Fever / genetics* Humans Male Mevalonate Kinase Deficiency / genetics* Point Mutation Receptors, Tumor Necrosis Factor / genetics* Receptors, Tumor Necrosis Factor, Type I / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Receptors, Tumor Necrosis Factor; 0/Receptors, Tumor Necrosis Factor, Type I; 0/TNFRSF1A protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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