Hereditary Autoimmune Thrombocytopenic Purpura: An Immunologic and Genetic Study
Authors: SIMON KARPATKIN
Journal: Annals of Internal Medicine (1981)

Brief Reports1 June 1981Hereditary Autoimmune Thrombocytopenic Purpura: An Immunologic and Genetic StudySIMON KARPATKIN, M.D., MARILENA FOTINO, M.D., ROBERT WINCHESTER, M.D.SIMON KARPATKIN, M.D.Search for more papers by this author, MARILENA FOTINO, M.D.Search for more papers by this author, ROBERT WINCHESTER, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-94-6-781 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptAlthough numerous cases of hereditary thrombocytopenia have been reported (1), only four families (1, 2) have clinical findings consistent with the diagnosis of autoimmune thrombocytopenic purpura. None of these had antiplatelet antibody measurements of their platelets. In this report we document the first case of familial autoimmune thrombocytopenic purpura with bound platelet antibody. This family provided a unique opportunity to ascertain the immunogenetics in six related patients, four of whom developed autoimmune thrombocytopenic purpura. The mode of inheritance and potential mechanisms of action of the histocompatibility determinants that influence disease were examined. The autoimmune thrombocytopenic purpura in this family segregated...References1. MURPHY S. Hereditary thrombocytopenia. Clin Hematol. 1972;1:359-68. Google Scholar2. STUARTTOMARMILLERDAVEY MRMF. Chronic idiopathic thrombocytopenic purpura: a familial immunodeficiency syndrome? JAMA. 1978;239:939-42. CrossrefMedlineGoogle Scholar3. HYMESSHULMANKARPATKIN KSS. A solid-phase radioimmunoassay for bound anti-platelet antibody: studies on 45 patients with autoimmune platelet disorders. J Lab Clin Med. 1979;94:639-48. MedlineGoogle Scholar4. KARPATKINSISKINDKARPATKIN MGS. The platelet factor 3 immunoinjury technique re-evaluated: development of a rapid test for antiplatelet antibody: detection in various clinical disorders, including immunologic drug-induced and neonatal thrombocytopenias. J Lab Clin Med. 1977;89:400-8. MedlineGoogle Scholar5. HARTZMANSEGALLBACHBACH RMMF. Histocompatibility matching: VI. Miniaturization of the mixed leukocyte culture test: a preliminary report. Transplantation. 1971;11:268-73. CrossrefMedlineGoogle Scholar6. GIBOFSKYWINCHESTERHANSEN ARJ. Contrasting patterns of newer histocompatibility determinants in patients with rheumatoid arthritis and systemic lupus erythematosus. Arthritis Rheum. 1978;21:S134-8. CrossrefMedlineGoogle Scholar7. REINERSTEINKIPPELJOHNSONSTEINBERGDECKERMANN JJAAJD. B-lymphocyte alloantigens associated with systemic lupus erythematosus. N Engl J Med. 1978;299:515-8. CrossrefMedlineGoogle Scholar8. GRUMETPAYNEKONISHIKRISS FRJJ. HL-A antigens as markers for disease susceptibility and autoimmunity in Graves' disease. J Clin Endocrinol Metab. 1974;39:1115-9. CrossrefMedlineGoogle Scholar9. FARIDSAMPSONNOEL NLE. A study of human leukocyte D locus related antigens in Graves' disease. J Clin Invest. 1979;63:108-13. CrossrefMedlineGoogle Scholar10. SASAZUKIMCDEVITTGRUMET THF. The association between genes in the major histocompatibility complex and disease susceptibility. Annu Rev Med. 1977;28:425-52. CrossrefMedlineGoogle Scholar11. KARPATKINFOTINOGIBOFSKYWINCHESTER SMAR. Association of HLA-DRw2 with autoimmune thrombocytopenic purpura. J Clin Invest. 1979;63:1085-8. CrossrefMedlineGoogle Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAuthors: SIMON KARPATKIN, M.D.; MARILENA FOTINO, M.D.; ROBERT WINCHESTER, M.D.Affiliations: New York University Medical Center New York Blood Center Rockefeller University New York, New York PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byCopy-number variations in adult patients with chronic immune thrombocytopeniaPathogenesis of immune thrombocytopeniaControversies in the diagnosis and management of childhood acute immune thrombocytopenic purpuraEndocrine Diseases in AdolescenceIdiopathische thrombozytopenische PurpuraIdiopathic autoimmune thrombocytopenia and neutropenia in siblingsImmune Thrombocytopenic PurpuraChronic isolated macrothrombocytopenia with autosomal dominant transmission: a morphological and qualitative platelet disorderCanine Idiopathic Thrombocytopenic PurpuraFamilial lupoid thrombocytopeniaFamilial segregation of cervical ribs, sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction: A new syndrome?Letter to the editor: Effective splenectomy in familial isolated thrombocytopeniaCharacterization of novel platelet and endothelial cell target antigens in a family with genetic susceptibility to autoimmunityFamilial hereditary thrombocytopenia and HLAFamilial thrombocytopenia associated with platelet autoantibodies and chromosome breakageChronic Immune Thrombocytopenic Purpura in Monozygotic TwinsGenetic factors predisposing to autoimmune diseasesAutoimmune Thrombocytopenic Purpura in Homosexual MenLYNN MORRIS, M.D., ARIEL DISTENFELD, M.D., EDWARD AMOROSI, M.D., SIMON KARPATKIN, M.D. 1 June 1981Volume 94, Issue 6Page: 781-782KeywordsAntiplatelet antibodiesBloodClinical geneticsHeartHistocompatibilityIdiopathic thrombocytopenic purpuraLungsPlatelets ePublished: 1 December 2008 Issue Published: 1 June 1981 PDF downloadLoading ...