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 and H.M. CHAPEL. NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders. Clin Exp Immunol. Blaskwell Synergy, 2010, vol. 161, No 3, p. 536-541. ISSN 0009-9104.
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Basic information
Original name NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders.
Name in Czech NOD2 polymoprfismus i klinických fenotypů běžného variabilního imunodefcitu
Authors PACKWOOD, K. (826 United Kingdom of Great Britain and Northern Ireland), E. DREWE (276 Germany), E. STAPLES (276 Germany), D. WEBSTER (826 United Kingdom of Great Britain and Northern Ireland), E. WITTE (276 Germany), J. LITZMAN (203 Czech Republic, guarantor, belonging to the institution), W. EGNER (276 Germany), R. SARGUR (276 Germany), W. SEWELL (826 United Kingdom of Great Britain and Northern Ireland), E. LOPEZ-GRANADOS (826 United Kingdom of Great Britain and Northern Ireland), S.L. SENEVIRATNE (826 United Kingdom of Great Britain and Northern Ireland), R.J. POWELL (276 Germany), B.L. FERRY (826 United Kingdom of Great Britain and Northern Ireland) and H.M. CHAPEL (826 United Kingdom of Great Britain and Northern Ireland).
Edition Clin Exp Immunol, Blaskwell Synergy, 2010, 0009-9104.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 30102 Immunology
Country of publisher Czech Republic
Confidentiality degree is not subject to a state or trade secret
Impact factor Impact factor: 3.134
RIV identification code RIV/00216224:14110/10:00046855
Organization unit Faculty of Medicine
UT WoS 000280990300017
Keywords (in Czech) protilátkový imunodeficit; běžný varibilní imunodefcit; náchylnost k onemocnění
Keywords in English antibody deficiency; common variable immunodeficiency; disease susceptibility/resistance/polymorphisms; immunodeficiency-primary; immunogenetics
Changed by Changed by: prof. MUDr. Jiří Litzman, CSc., učo 403. Changed: 17/1/2011 10:40.
Abstract
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.
Abstract (in Czech)
Prezentujeme frekvenci různách fenotypů pacientů s CVID a polymoprfismy neů pro NOD2.
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