Publication details

NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders.

Authors

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.

Year of publication 2010
Type Article in Periodical
Magazine / Source Clin Exp Immunol
MU Faculty or unit

Faculty of Medicine

Citation
Field Immunology
Keywords antibody deficiency; common variable immunodeficiency; disease susceptibility/resistance/polymorphisms; immunodeficiency-primary; immunogenetics
Description 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.

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