title: Familial acquired thrombotic thrombocytopenic purpura in siblings - no immunogenetic link with associated human leucocyte antigens.
abstract: Acquired immunoglobulin G (IgG)-mediated thrombotic thrombocytopenic purpura (TTP) has not yet been described in non-twin siblings. We report two cases of acquired TTP in Caucasian sisters with inactive ADAMTS13 metalloprotease due to ADAMTS13 autoantibodies suggesting a role of genetic determinants in this life-threatening disease. However, human leucocyte antigen (HLA) class II types presumably associated with acquired TTP were not identified in the patients, indicating that HLA class II typing may not be useful in acquired TTP risk assessment of family members.
authors.affiliation: 1st Department of Internal Medicine, University of Cologne, Cologne, Germany.
authors.forename: Philipp
authors.initials: P
authors.lastname: Gödel
authors.affiliation: 1st Department of Internal Medicine, University of Cologne, Cologne, Germany.
authors.forename: Julia
authors.initials: J
authors.lastname: Fischer
authors.affiliation: 1st Department of Internal Medicine, University of Cologne, Cologne, Germany.
authors.forename: Christoph
authors.initials: C
authors.lastname: Scheid
authors.affiliation: Transfusion Medicine, University of Cologne, Cologne, Germany.
authors.forename: Birgit S
authors.initials: BS
authors.lastname: Gathof
authors.affiliation: 1st Department of Internal Medicine, University of Cologne, Cologne, Germany.
authors.forename: Jürgen
authors.initials: J
authors.lastname: Wolf
authors.affiliation: 1st Department of Internal Medicine, University of Cologne, Cologne, Germany.|Center for Molecular Medicine Cologne, University of Cologne, Cologne, Germany.
authors.forename: Jan
authors.initials: J
authors.lastname: Rybniker
mesh_terms: D000071120:ADAMTS13 Protein / Q000276:immunology / Q000378:metabolism; D000328:Adult; D001323:Autoantibodies / Q000276:immunology; D004198:Disease Susceptibility; D005260:Female; D006680:HLA Antigens / Q000235:genetics / Q000276:immunology; D006801:Humans; D007125:Immunogenetics; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011697:Purpura, Thrombotic Thrombocytopenic / Q000175:diagnosis* / Q000209:etiology*; D035781:Siblings
chemical_list: D001323:Autoantibodies; D006680:HLA Antigens; D000071120:ADAMTS13 Protein
keywords: ADAMTS13; human leucocyte antigen; thrombotic thrombocytopenic purpura