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

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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 languageEnglish
JournalGenes and Immunity
Volume12
Issue number2
Pages (from-to)90-9
Number of pages10
ISSN1466-4879
DOIs
Publication statusPublished - 2011

    Research areas

  • Alleles, Antigens, CD46, Blood Proteins, Chromosomes, Human, Pair 1, Complement C3b Inactivator Proteins, Complement Factor H, Complement Pathway, Alternative, Female, Gene Expression Regulation, Genetic Variation, Glomerulonephritis, Heterozygote, Homozygote, Humans, Infant, Mutation, Missense, RNA, Messenger, Sequence Analysis, DNA, Uniparental Disomy

ID: 33143342