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  • We present the frequencies of the different phenotypes of patients with CVID within our international cohort. Arg702trp polymorphisms were significantly less frequent than wild type (WT) (P=0,038) among international CVID patients with splenomegaly. Gly908arg polymorphisms were more prevalent than WT in UK patients with autoimmune disorders (P=0,049) or enteropathy (P=0,049). NOD2 polymorphisms were not more prevalent than WT in CVID patients with clinical phenotypes of granulomata. UK allele frequencies of 0,014, 0,056 and 0,026 were found for gly908arg, arg702trp and leu1007finsc NOD2 polymorphisms, respectively. These do not differ significantly from UK immunocompetent controls confirming, as expected, that in addition these NOD2 polymorphisms do not confer susceptibility to CVIDs per se.
  • We present the frequencies of the different phenotypes of patients with CVID within our international cohort. Arg702trp polymorphisms were significantly less frequent than wild type (WT) (P=0,038) among international CVID patients with splenomegaly. Gly908arg polymorphisms were more prevalent than WT in UK patients with autoimmune disorders (P=0,049) or enteropathy (P=0,049). NOD2 polymorphisms were not more prevalent than WT in CVID patients with clinical phenotypes of granulomata. UK allele frequencies of 0,014, 0,056 and 0,026 were found for gly908arg, arg702trp and leu1007finsc NOD2 polymorphisms, respectively. These do not differ significantly from UK immunocompetent controls confirming, as expected, that in addition these NOD2 polymorphisms do not confer susceptibility to CVIDs per se. (en)
Title
  • NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders
  • NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders (en)
skos:prefLabel
  • NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders
  • NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders (en)
skos:notation
  • RIV/00159816:_____/10:#0000544!RIV11-MZ0-00159816
http://linked.open...avai/riv/aktivita
http://linked.open...avai/riv/aktivity
  • S, V
http://linked.open...iv/cisloPeriodika
  • 3
http://linked.open...vai/riv/dodaniDat
http://linked.open...aciTvurceVysledku
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http://linked.open...dnocenehoVysledku
  • 274947
http://linked.open...ai/riv/idVysledku
  • RIV/00159816:_____/10:#0000544
http://linked.open...riv/jazykVysledku
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  • antibody deficiency, common variable immunodeficiency, disease susceptibility/resistance/polymorphisms, immunodeficiency-primary, immunogenetics (en)
http://linked.open.../riv/klicoveSlovo
http://linked.open...odStatuVydavatele
  • GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV
  • [50239C591E5C]
http://linked.open...i/riv/nazevZdroje
  • Clinical Experimental Immunology
http://linked.open...in/vavai/riv/obor
http://linked.open...ichTvurcuVysledku
http://linked.open...cetTvurcuVysledku
http://linked.open...UplatneniVysledku
http://linked.open...v/svazekPeriodika
  • 161
http://linked.open...iv/tvurceVysledku
  • Litzman, Jiří
  • Lopez-Granados, E.
  • Chapel, H. M.
  • Drewe, E.
  • Egner, W.
  • Ferry, B. L.
  • Packwood, K.
  • Powell, R. J.
  • Sargur, R.
  • Seneviratne, S. L.
  • Sewell, W.
  • Staples, E.
  • Webster, D.
  • Witte, E.
http://linked.open...ain/vavai/riv/wos
  • 000280990300017
issn
  • 0009-9104
number of pages
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