TY - JOUR
T1 - The spectrum of phenotypes caused by variants in the CFH gene
AU - Boon, Camiel J. F.
AU - van de Kar, Nicole C.
AU - Klevering, B. Jeroen
AU - Keunen, Jan E. E.
AU - Cremers, Frans P. M.
AU - Klaver, Caroline C. W.
AU - Hoyng, Carel B.
AU - Daha, Mohamed R.
AU - den Hollander, Anneke I.
PY - 2009/5
Y1 - 2009/5
N2 - Complement factor H (CFH) is a complement inhibitor, which is present as a soluble protein and attached to cell surfaces throughout the human body. As such, CFH is a key player in complement homeostasis, inhibiting excessive activation of the complement cascade, with an emphasis on the alternative pathway. The significance of CFH is demonstrated by the broad range of phenotypes associated with specific CFH gene variants. This phenotypic spectrum includes renal phenotypes, such as membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome, as well as ocular phenotypes, such as basal laminar drusen and age-related macular degeneration. In addition, several overlapping phenotypes have been described in association with CFH gene variants. The phenotypic outcome of these CFH variants depends on their differential impact on plasma- and surface-bound CFH function. Consequently, distinct genotype-phenotype correlations may be observed. © 2009 Elsevier Ltd. All rights reserved.
AB - Complement factor H (CFH) is a complement inhibitor, which is present as a soluble protein and attached to cell surfaces throughout the human body. As such, CFH is a key player in complement homeostasis, inhibiting excessive activation of the complement cascade, with an emphasis on the alternative pathway. The significance of CFH is demonstrated by the broad range of phenotypes associated with specific CFH gene variants. This phenotypic spectrum includes renal phenotypes, such as membranoproliferative glomerulonephritis and atypical hemolytic uremic syndrome, as well as ocular phenotypes, such as basal laminar drusen and age-related macular degeneration. In addition, several overlapping phenotypes have been described in association with CFH gene variants. The phenotypic outcome of these CFH variants depends on their differential impact on plasma- and surface-bound CFH function. Consequently, distinct genotype-phenotype correlations may be observed. © 2009 Elsevier Ltd. All rights reserved.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=64149117800&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/19297022
U2 - https://doi.org/10.1016/j.molimm.2009.02.013
DO - https://doi.org/10.1016/j.molimm.2009.02.013
M3 - Review article
C2 - 19297022
SN - 0161-5890
VL - 46
SP - 1573
EP - 1594
JO - Molecular immunology
JF - Molecular immunology
IS - 8-9
ER -