A novel CD46 mutation in a patient with microangiopathy clinically resembling thrombotic thrombocytopenic purpura and normal ADAMTS13 activity.
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplantation, University of Milan and Luigi Villa Foundation, Milan, Italy.
Raffaella
R
Rossio
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplantation, University of Milan and Luigi Villa Foundation, Milan, Italy.
Luca Andrea
LA
Lotta
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplantation, University of Milan and Luigi Villa Foundation, Milan, Italy.
Silvia
S
Pontiggia
Laboratory of Medical Genetics, Center for HUS Control Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy.
Nicolò Ghiringhelli
NG
Borsa
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplantation, University of Milan and Luigi Villa Foundation, Milan, Italy.
Isabella
I
Garagiola
Center for HUS Control, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Milan, Italy.
Gianluigi
G
Ardissino
Blood Transfusion Institute of Serbia, Svetog Save 39, Belgrade, Serbia.
Danijela
D
Mikovic
Internal Medicine, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplantation, University of Milan, Italy.
Massimo
M
Cugno
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center, Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico, Department of Pathophysiology and Transplantation, University of Milan and Luigi Villa Foundation, Milan, Italy flora.peyvandi@unimi.it.
Flora
F
Peyvandi
D051722:ADAM Proteins / Q000235:genetics* / Q000276:immunology; D000071120:ADAMTS13 Protein; D000328:Adult; D065766:Atypical Hemolytic Uremic Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D001483:Base Sequence; D002648:Child; D003170:Complement Pathway, Alternative / Q000235:genetics; D003171:Complement Pathway, Classical / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D015870:Gene Expression; D006579:Heterozygote; D006801:Humans; D008297:Male; D051916:Membrane Cofactor Protein / Q000235:genetics* / Q000276:immunology; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D011697:Purpura, Thrombotic Thrombocytopenic / Q000175:diagnosis / Q000235:genetics / Q000276:immunology; D014841:von Willebrand Factor / Q000235:genetics / Q000276:immunology
C497857:CD46 protein, human; D051916:Membrane Cofactor Protein; D014841:von Willebrand Factor; D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human
TTP; complement abnormalities