NOD2 polymorphisms in clinical phenotypes of common variable
immunodeficiency disorders.

J 2010

NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders.

PACKWOOD, K.; E. DREWE; E. STAPLES; D. WEBSTER; E. WITTE et al.

Základní údaje

Originální název

NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders.

Název česky

NOD2 polymoprfismus i klinických fenotypů běžného variabilního imunodefcitu

Autoři

PACKWOOD, K.; E. DREWE; E. STAPLES; D. WEBSTER; E. WITTE; J. LITZMAN; W. EGNER; R. SARGUR; W. SEWELL; E. LOPEZ-GRANADOS; S.L. SENEVIRATNE; R.J. POWELL; B.L. FERRY a H.M. CHAPEL

Vydání

Clin Exp Immunol, Blaskwell Synergy, 2010, 0009-9104

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30102 Immunology

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 3.134

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/10:00046855

Organizační jednotka

Lékařská fakulta

UT WoS

000280990300017

Klíčová slova česky

protilátkový imunodeficit; běžný varibilní imunodefcit; náchylnost k onemocnění

Klíčová slova anglicky

antibody deficiency; common variable immunodeficiency; disease susceptibility/resistance/polymorphisms; immunodeficiency-primary; immunogenetics

Změněno: 17. 1. 2011 10:40, prof. MUDr. Jiří Litzman, CSc.

Anotace

ORIG CZ

V originále

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.

Česky

Prezentujeme frekvenci různách fenotypů pacientů s CVID a polymoprfismy neů pro NOD2.

Citovat

PACKWOOD, K.; E. DREWE; E. STAPLES; D. WEBSTER; E. WITTE; J. LITZMAN; W. EGNER; R. SARGUR; W. SEWELL; E. LOPEZ-GRANADOS; S.L. SENEVIRATNE; R.J. POWELL; B.L. FERRY a H.M. CHAPEL. NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders. Clin Exp Immunol. Blaskwell Synergy, 2010, roč. 161, č. 3, s. 536-541. ISSN 0009-9104.

@article{920489,
   author = {Packwood, K. and Drewe, E. and Staples, E. and Webster, D. and Witte, E. and Litzman, J. and Egner, W. and Sargur, R. and Sewell, W. and LopezandGranados, E. and Seneviratne, S.L. and Powell, R.J. and Ferry, B.L. and Chapel, H.M.},
   article_number = {3},
   keywords = {antibody deficiency; common variable immunodeficiency; disease susceptibility/resistance/polymorphisms; immunodeficiency-primary; immunogenetics},
   language = {eng},
   issn = {0009-9104},
   journal = {Clin Exp Immunol},
   title = {NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders.},
   volume = {161},
   year = {2010}
}

TY  - JOUR
ID  - 920489
AU  - Packwood, K. - Drewe, E. - Staples, E. - Webster, D. - Witte, E. - Litzman, J. - Egner, W. - Sargur, R. - Sewell, W. - Lopez-Granados, E. - Seneviratne, S.L. - Powell, R.J. - Ferry, B.L. - Chapel, H.M.
PY  - 2010
TI  - NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders.
JF  - Clin Exp Immunol
VL  - 161
IS  - 3
SP  - 536-541
EP  - 536-541
PB  - Blaskwell Synergy
SN  - 00099104
KW  - antibody deficiency
KW  - common variable immunodeficiency
KW  - disease susceptibility/resistance/polymorphisms
KW  - immunodeficiency-primary
KW  - immunogenetics
N2  - 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.
ER  -

PACKWOOD, K.; E. DREWE; E. STAPLES; D. WEBSTER; E. WITTE; J. LITZMAN; W. EGNER; R. SARGUR; W. SEWELL; E. LOPEZ-GRANADOS; S.L. SENEVIRATNE; R.J. POWELL; B.L. FERRY a H.M. CHAPEL. NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders. \textit{Clin Exp Immunol}. Blaskwell Synergy, 2010, roč.~161, č.~3, s.~536-541. ISSN~0009-9104.

Přehled o publikaci