Atypical Hemolytic Uremic Syndrome Secondary to Homozygous CFHR1-CFHR3 Mutationdoi:10.1681/ASN.20213210S1145bJad TabbaraMohamed HassaneinXiangling WangEvamaria AnvariAmerican Society of NephrologyJournal of the American Society of Nephrology
Atypical Hemolytic Uremic Syndrome Associated With Complement Factor H Autoantibodies and CFHR1/CFHR3 Deficiency BEOM HEE LEE, SOO HEON KWAK, JAE IL SHIN, SO HEE LEE, HYUN JIN CHOI, HEE GYUNG KANG, IL SOO HA, JAE SEUNG LEE, MARIE-AGNE` S DRAGON-DUREY, YONG CHOI, AND HAE IL CHEONG ...
factor h autoantibodies in atypical hemolytic uremic syndrome correlate with cfhr1/cfhr3 deficiency and affect recognition functionsfactor h autoantibodies in atypical hemolytic uremic syndrome correlate with cfhr1/cfhr3 deficiency and affect recognition functionsdoi:10.1016/j.molimm.2007.06.040Mihály...
Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Hum Mol Genet. 2008; 17 :971–77.Spencer KL, Hauser MA, Olson LM et al (2008) Deletion of CFHR3 and CFHR1 genes in age-related macular degeneration. Hum Mol Genet 17(7):971–977...
No otherCFH-CFHR5genomic region mutations were detected. The frequency of heterozygousCFHR3-CFHR1deletion was not found to be significantly different between case and control groups. Given the large amount of carfilzomib exposure among the control group, this result suggests that the heterozygousCFHR3...
Lupus Nephritis Complicated by Atypical Hemolytic Uremic Syndrome and Heterozygous Deletion in CFHR1-CFHR3 Successfully Treated with Ravulizumabdoi:10.1681/ASN.20233411S1277cSahar AminThe University of Tennessee Health Science Center College of Medicine, Memphis, TN;Barry M. Wall...
The absence of CFHR3 and CFHR1 genes from the T2T-CHM13 assembly can limit the molecular diagnosis of complement-related diseasesDiagnostic markersDNA sequencingHaemolytic uraemic syndromedoi:10.1038/s41431-023-01350-8Abderaouf,HamzaCarine,El-Sissy...
Genetic study of complement did not show pathogenic variants in the 12 genes analyzed, but revealed a deletion in gene CFHR3/CFHR1 in homozygosity. Our patient completed 10 sessions of PEX, followed by eculizumab, with both clinical and laboratorial improvement. Actually, given the short time ...
Genetic study of complement did not show pathogenic variants in the 12 genes analyzed, but revealed a deletion in gene CFHR3/CFHR1 in homozygosity. Our patient completed 10 sessions of PEX, followed by eculizumab, with both clinical and laboratorial improvement. Actually, given the short time ...
Homozygous CFHR3/CFHR1 deletion frequencies in UK and HGDP-CEPH worldwide populations.Lucy, V. HolmesLisa, StrainScott, J. StaniforthIain, MooreKevin, MarchbankDavid, KavanaghJudith, A. GoodshipHeather, J. CordellTimothy, H. J. Goodship...