CD46-associated atypical hemolytic uremic syndrome with uncommon course caused by cblC deficiency.
Bouts
Antonia H
AH
Roofthooft
Marcus T R
MT
Salomons
Gajja S
GS
Davin
Jean-Claude
JC
D065766:Atypical Hemolytic Uremic Syndrome; D017809:Fatal Outcome; D020022:Genetic Predisposition to Disease; D006463:Hemolytic-Uremic Syndrome / Q000201:enzymology / Q000235:genetics / Q000276:immunology / Q000628:therapy; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics / Q000628:therapy; D016030:Kidney Transplantation; D051916:Membrane Cofactor Protein / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D010951:Plasma Exchange; D050721:Proto-Oncogene Proteins c-cbl / Q000172:deficiency / Q000235:genetics*; D011668:Pulmonary Veno-Occlusive Disease / Q000235:genetics; D006435:Renal Dialysis; D016896:Treatment Outcome
C497857:CD46 protein, human; D051916:Membrane Cofactor Protein; D050721:Proto-Oncogene Proteins c-cbl; C119570:CBLC protein, human