Ontology highlight
ABSTRACT:
SUBMITTER: Willcocks LC
PROVIDER: S-EPMC2442635 | biostudies-literature | 2008 Jul
REPOSITORIES: biostudies-literature
Willcocks Lisa C LC Lyons Paul A PA Clatworthy Menna R MR Robinson James I JI Yang Wanling W Newland Stephen A SA Plagnol Vincent V McGovern Naomi N NN Condliffe Alison M AM Chilvers Edwin R ER Adu Dwomoa D Jolly Elaine C EC Watts Richard R Lau Yu Lung YL Morgan Ann W AW Nash Gerard G Smith Kenneth G C KG
The Journal of experimental medicine 20080616 7
Copy number (CN) variation (CNV) has been shown to be common in regions of the genome coding for immune-related genes, and thus impacts upon polygenic autoimmunity. Low CN of FCGR3B has recently been associated with systemic lupus erythematosus (SLE). FcgammaRIIIb is a glycosylphosphatidylinositol-linked, low affinity receptor for IgG found predominantly on human neutrophils. We present novel data demonstrating that both in a family with FcgammaRIIIb-deficiency and in the normal population, FCGR ...[more]