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
• 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.