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

L Schejbel; I M Schmidt; Eva Maria Kirchhoff; C B Andersen; H V Marquart; P Zipfel; P Garred

doi:10.1038/gene.2010.63

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

L Schejbel, I M Schmidt, Eva Maria Kirchhoff, C B Andersen, H V Marquart, P Zipfel, P Garred

24 Citations (Scopus)

Abstract

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 (

Original language	English
Journal	Genes and Immunity
Volume	12
Issue number	2
Pages (from-to)	90-9
Number of pages	10
ISSN	1466-4879
DOIs	https://doi.org/10.1038/gene.2010.63
Publication status	Published - Mar 2011

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title = "Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation",

abstract = "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 (",

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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

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JO - Genes and Immunity

JF - Genes and Immunity

IS - 2

ER -

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

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