title: Congenital CD59 Deficiency.
abstract: The severe clinical symptoms of inherited CD59 deficiency confirm the importance of CD59 as essential complement regulatory protein for protection of cells against complement attack, in particular protection of hematopoietic cells and human neuronal tissue. Targeted complement inhibition might become a treatment option as suggested by a case report. The easy diagnostic approach by flow cytometry and the advent of a new treatment option should increase the awareness of this rare differential diagnosis and lead to further studies on their pathophysiology.
authors.affiliation: Institute of Transfusion Medicine, University of Ulm, Ulm, Germany; Institute of Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Transfusion Service, Baden-Württemberg-Hessen, University Hospital of Ulm, Helmholtzstraße 10, Ulm 89081, Germany. Electronic address: b.hoechsmann@blutspende.de.
authors.forename: Britta
authors.initials: B
authors.lastname: Höchsmann
authors.affiliation: Institute of Transfusion Medicine, University of Ulm, Ulm, Germany; Institute of Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Transfusion Service, Baden-Württemberg-Hessen, University Hospital of Ulm, Helmholtzstraße 10, Ulm 89081, Germany.
authors.forename: Hubert
authors.initials: H
authors.lastname: Schrezenmeier
mesh_terms: D000743:Anemia, Hemolytic / Q000175:diagnosis / Q000276:immunology* / Q000517:prevention & control; D000818:Animals; D061067:Antibodies, Monoclonal, Humanized / Q000276:immunology / Q000627:therapeutic use; D018957:CD59 Antigens / Q000235:genetics / Q000276:immunology* / Q000378:metabolism; D003165:Complement System Proteins / Q000276:immunology* / Q000378:metabolism; D005434:Flow Cytometry; D006456:Hemoglobinuria / Q000175:diagnosis / Q000276:immunology* / Q000517:prevention & control; D006801:Humans; D018448:Models, Immunological; D009154:Mutation / Q000235:genetics / Q000276:immunology*; D011485:Protein Binding / Q000187:drug effects / Q000276:immunology
chemical_list: D061067:Antibodies, Monoclonal, Humanized; D018957:CD59 Antigens; D003165:Complement System Proteins; C481642:eculizumab
keywords: CD59 deficiency; Glycosylphosphatidylinositol anchor; Homologous restriction factor; Membrane attack complex inhibitory factor; Membrane inhibitor of reactive lysis; Paroxysmal nocturnal hemoglobinuria; Terminal complement system