An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome.
about
Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypesFalling into TRAPS--receptor misfolding in the TNF receptor 1-associated periodic fever syndromeThe enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome.Mutant forms of tumour necrosis factor receptor I that occur in TNF-receptor-associated periodic syndrome retain signalling functions but show abnormal behaviour.Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept.Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.Monocytic fasciitis: a newly recognized clinical feature of tumor necrosis factor receptor dysfunction.
P2860
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P2860
An Israeli Arab patient with a de novo TNFRSF1A mutation causing tumor necrosis factor receptor-associated periodic syndrome.
description
2002 nî lūn-bûn
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2002年の論文
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2002年論文
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2002年論文
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2002年論文
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2002年論文
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2002年論文
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2002年论文
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2002年论文
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2002年论文
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name
An Israeli Arab patient with a ...... -associated periodic syndrome.
@en
An Israeli Arab patient with a ...... -associated periodic syndrome.
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type
label
An Israeli Arab patient with a ...... -associated periodic syndrome.
@en
An Israeli Arab patient with a ...... -associated periodic syndrome.
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prefLabel
An Israeli Arab patient with a ...... -associated periodic syndrome.
@en
An Israeli Arab patient with a ...... -associated periodic syndrome.
@en-gb
P2093
P2860
P50
P1476
An Israeli Arab patient with a ...... -associated periodic syndrome.
@en
P2093
Avraham Zeharia
Catherine Thacker
David R Booth
Ebun Aganna
Graham A Hitman
Philip N Hawkins
Rebecca A Allotey
P2860
P304
P356
10.1002/1529-0131(200201)46:1<245::AID-ART10038>3.0.CO;2-6
P577
2002-01-01T00:00:00Z