Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation

TY - JOUR

T1 - Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation

AU - Schejbel, L

AU - Schmidt, I M

AU - Kirchhoff, Eva Maria

AU - Andersen, C B

AU - Marquart, H V

AU - Zipfel, P

AU - Garred, P

PY - 2011/3

Y1 - 2011/3

N2 - Complement factor H (CFH) is a regulator of the alternative complement activation pathway. Mutations in the CFH gene are associated with atypical hemolytic uremic syndrome, membranoproliferative glomerulonephritis type II and C3 glomerulonephritis. Here, we report a 6-month-old CFH-deficient child presenting with endocapillary glomerulonephritis rather than membranoproliferative glomerulonephritis (MPGN) or C3 glomerulonephritis. Sequence analyses showed homozygosity for a novel CFH missense mutation (Pro139Ser) associated with severely decreased CFH plasma concentration (

AB - Complement factor H (CFH) is a regulator of the alternative complement activation pathway. Mutations in the CFH gene are associated with atypical hemolytic uremic syndrome, membranoproliferative glomerulonephritis type II and C3 glomerulonephritis. Here, we report a 6-month-old CFH-deficient child presenting with endocapillary glomerulonephritis rather than membranoproliferative glomerulonephritis (MPGN) or C3 glomerulonephritis. Sequence analyses showed homozygosity for a novel CFH missense mutation (Pro139Ser) associated with severely decreased CFH plasma concentration (

U2 - 10.1038/gene.2010.63

DO - 10.1038/gene.2010.63

M3 - Journal article

SN - 1466-4879

VL - 12

SP - 90

EP - 99

JO - Genes and Immunity

JF - Genes and Immunity

IS - 2

ER -