"neonatal Fc receptor" . . "2007-01-01+01:00"^^ . . "Screening mutac\u00ED a polymorfism\u016F v genu pro neonat\u00E1ln\u00ED Fc receptor u pacient\u016F s prim\u00E1rn\u00EDmi poruchami tvorby protil\u00E1tek" . "C\u00EDlem projektu je zmapovat kompletn\u00ED spektrum mutac\u00ED a/nebo polymorfism\u016F v genu pro FcRn v populaci zdrav\u00FDch jedinc\u016F a pacient\u016F trp\u00EDc\u00EDch XLA a CVID. Na z\u00E1klad\u011B v\u00FDsledk\u016F genetick\u00E9 anal\u00FDzy genu pro FcRn a zn\u00E1m\u00E9ho klinick\u00E9ho projevu pacient\u016F s XLA a CVID bude stanoveno, zda a jak ovliv\u0148uje sekven\u010Dn\u00ED variabilita genu fenotyp t\u011Bchto onemocn\u011Bn\u00ED, zejm\u00E9na pak reakci pacient\u016F na l\u00E9\u010Dbu IVIG." . . . . "http://www.isvav.cz/projectDetail.do?rowId=NR9192"^^ . "Screening of mutations and polymorphisms in neonatal Fc receptor gene in patients with primary disorders of antibody production"@en . . . "NR9192" . "U pacient\u016F s CVID byly detekov\u00E1ny 3 mutace v genu FCRN. Funk\u010Dn\u011B v\u00FDznamn\u00FD polymorfismus VNTR v promotoru FCRN neovliv\u0148uje s\u00E9rov\u00E9 hladiny IgG, maternofet\u00E1ln\u00ED p\u0159enos IgG ani fenotyp CVID. Ni\u017E\u0161\u00ED exprese FCRN je asociov\u00E1na s plicn\u00EDmi abnormitami u CVID."@cs . . " CVID" . "2009-12-31+01:00"^^ . "neonatal Fc receptor; XLA; CVID; IVIG; IgG homeostasis; gene polymorphism"@en . . "2009-12-18+01:00"^^ . . . "7"^^ . "7"^^ . . "2011-04-27+02:00"^^ . . . " IVIG" . . "1"^^ . "2"^^ . . . "The aim of our project is to completely map mutation and/or polymorphism spectrum in the FcRn gene in healthy subjects and in patients with primary disorders of antibody production. It will be determined whether and how a sequence variability in the FcRn gene influences a phenotype of these patients, especially their response to IVIG therapy."@en . " IgG homeostasis" . "0"^^ . . . " XLA" . "Three FCRN mutations were detected in CVID patients. The FCRN VNTR promoter polymorphism has no influence on IgG levels in serum, maternofoetal IgG transfer or clinical CVID phenotype. Lower FCRN expression is associated with lung abnormities in CVID."@en . .