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 language | English |
|---|---|
| Journal | Genes and Immunity |
| Volume | 12 |
| Issue number | 2 |
| Pages (from-to) | 90-9 |
| Number of pages | 10 |
| ISSN | 1466-4879 |
| DOIs | |
| Publication status | Published - 2011 |
ID: 40139535