Literature DB >> 3926021

Type IIB Tampa: a variant of von Willebrand disease with chronic thrombocytopenia, circulating platelet aggregates, and spontaneous platelet aggregation.

H I Saba, S R Saba, J Dent, Z M Ruggeri, T S Zimmerman.   

Abstract

Type IIB von Willebrand disease is characterized by enhanced ristocetin-induced platelet aggregation and absence of large von Willebrand factor multimers from plasma. An alteration of the von Willebrand factor molecule resulting in increased reactivity with platelets appears to be the basis for these abnormalities. We have now identified a new variant of type IIB von Willebrand disease in a family in which the four affected members also have chronic thrombocytopenia, in vivo platelet aggregate formation, and spontaneous platelet aggregation in vitro. In spite of repeatedly prolonged bleeding times and persistent thrombocytopenia, their bleeding diathesis is only moderate.

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Year:  1985        PMID: 3926021

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


  11 in total

1.  Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.

Authors:  E W Murray; A R Giles; D Lillicrap
Journal:  Am J Hum Genet       Date:  1992-01       Impact factor: 11.025

2.  Management of severe chronic thrombocytopenia in von Willebrand's disease type 2B.

Authors:  C Mauz-Körholz; U Budde; H Kruck; D Körholz; U Göbel
Journal:  Arch Dis Child       Date:  1998-03       Impact factor: 3.791

3.  Hyperactive GPIb-von Willebrand factor interaction as cause of thrombocytopenia: altered platelet formation versus clearance.

Authors:  Kathleen Freson
Journal:  Haematologica       Date:  2019-07       Impact factor: 9.941

4.  LIM kinase/cofilin dysregulation promotes macrothrombocytopenia in severe von Willebrand disease-type 2B.

Authors:  Alexandre Kauskot; Sonia Poirault-Chassac; Frédéric Adam; Vincent Muczynski; Gabriel Aymé; Caterina Casari; Jean-Claude Bordet; Christelle Soukaseum; Chantal Rothschild; Valérie Proulle; Audrey Pietrzyk-Nivau; Eliane Berrou; Olivier D Christophe; Jean-Philippe Rosa; Peter J Lenting; Marijke Bryckaert; Cécile V Denis; Dominique Baruch
Journal:  JCI Insight       Date:  2016-10-06

5.  Type IIB von Willebrand factor with normal sialic acid content induces platelet aggregation in the absence of ristocetin. Role of platelet activation, fibrinogen, and two distinct membrane receptors.

Authors:  L De Marco; M Mazzuccato; M Grazia Del Ben; U Budde; A B Federici; A Girolami; Z M Ruggeri
Journal:  J Clin Invest       Date:  1987-08       Impact factor: 14.808

6.  von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure.

Authors:  L Holmberg; J A Dent; R Schneppenheim; U Budde; J Ware; Z M Ruggeri
Journal:  J Clin Invest       Date:  1993-05       Impact factor: 14.808

7.  Subunit composition of plasma von Willebrand factor. Cleavage is present in normal individuals, increased in IIA and IIB von Willebrand disease, but minimal in variants with aberrant structure of individual oligomers (types IIC, IID, and IIE).

Authors:  T S Zimmerman; J A Dent; Z M Ruggeri; L H Nannini
Journal:  J Clin Invest       Date:  1986-03       Impact factor: 14.808

8.  Type 2B von Willebrand disease associated with the release of platelet agglutinates from megakaryocytes in the bone marrow.

Authors:  William B Slayton; Milin Patel; Martha Sola-Visner; Neil Harris; Angela Rivers; Robert R Montgomery; Kenneth D Friedman
Journal:  J Pediatr Hematol Oncol       Date:  2008-09       Impact factor: 1.289

9.  von Willebrand factor mutation promotes thrombocytopathy by inhibiting integrin αIIbβ3.

Authors:  Caterina Casari; Eliane Berrou; Marilyne Lebret; Frédéric Adam; Alexandre Kauskot; Régis Bobe; Céline Desconclois; Edith Fressinaud; Olivier D Christophe; Peter J Lenting; Jean-Philippe Rosa; Cécile V Denis; Marijke Bryckaert
Journal:  J Clin Invest       Date:  2013-11-25       Impact factor: 14.808

Review 10.  The molecular genetics of von Willebrand disease.

Authors:  Ergül Berber
Journal:  Turk J Haematol       Date:  2012-12-05       Impact factor: 1.831

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