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

Research output: Contribution to journal › Journal article › Research › peer-review

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Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation. / Schejbel, L; Schmidt, I M; Kirchhoff, Eva Maria; Andersen, C B; Marquart, H V; Zipfel, P; Garred, P.

In: Genes and Immunity, Vol. 12, No. 2, 2011, p. 90-9.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Schejbel, L, Schmidt, IM, Kirchhoff, EM, Andersen, CB, Marquart, HV, Zipfel, P & Garred, P 2011, 'Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation', Genes and Immunity, vol. 12, no. 2, pp. 90-9. https://doi.org/10.1038/gene.2010.63

APA

Schejbel, L., Schmidt, I. M., Kirchhoff, E. M., Andersen, C. B., Marquart, H. V., Zipfel, P., & Garred, P. (2011). Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation. Genes and Immunity, 12(2), 90-9. https://doi.org/10.1038/gene.2010.63

Vancouver

Schejbel L, Schmidt IM, Kirchhoff EM, Andersen CB, Marquart HV, Zipfel P et al. Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation. Genes and Immunity. 2011;12(2):90-9. https://doi.org/10.1038/gene.2010.63

Author

Schejbel, L ; Schmidt, I M ; Kirchhoff, Eva Maria ; Andersen, C B ; Marquart, H V ; Zipfel, P ; Garred, P. / Complement factor H deficiency and endocapillary glomerulonephritis due to paternal isodisomy and a novel factor H mutation. In: Genes and Immunity. 2011 ; Vol. 12, No. 2. pp. 90-9.

Bibtex

@article{7067ef90b7274354ad30cb2322025793,
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 (",
author = "L Schejbel and Schmidt, {I M} and Kirchhoff, {Eva Maria} and Andersen, {C B} and Marquart, {H V} and P Zipfel and P Garred",
year = "2011",
doi = "http://dx.doi.org/10.1038/gene.2010.63",
language = "English",
volume = "12",
pages = "90--9",
journal = "Genes and Immunity",
issn = "1466-4879",
publisher = "nature publishing group",
number = "2",

}

RIS

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

Y1 - 2011

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 - http://dx.doi.org/10.1038/gene.2010.63

DO - http://dx.doi.org/10.1038/gene.2010.63

M3 - Journal article

VL - 12

SP - 90

EP - 99

JO - Genes and Immunity

JF - Genes and Immunity

SN - 1466-4879

IS - 2

ER -

ID: 40139535