eISSN: 1644-4124
ISSN: 1426-3912
Central European Journal of Immunology
Current issue Archive Manuscripts accepted About the journal Special Issues Editorial board Abstracting and indexing Subscription Contact Instructions for authors Publication charge Ethical standards and procedures
Editorial System
Submit your Manuscript
SCImago Journal & Country Rank
Search
3/2007
vol. 32
 
Share:
Send email
Share:
abstract:

Clinical immunology
Bernard-Soulier syndrome in three siblings with a supernumerary small marker chromosome

Ewa Nita
,
Lech Konopka
,
Ksenia Bykowska
,
Krystyna Maślanka
,
Stanisław Łopaciuk
,
Zdzisława Traczyk
,
Renata Woroniecka
,
Barbara Pieńkowska-Grela

Centr Eur J Immunol 2007; 32 (3): 129-133
Online publish date: 2007/09/10
View full text Get citation
 
The Bernard-Soulier syndrome (BSS) is a rare congenital bleeding disorder, inherited in an autosomal recessive manner. It is caused by an impaired synthesis or dysfunction of platelet glycoprotein Ib/IX/V complex, which functions as receptor for the von Willebrand factor and thrombin. This paper describes a Polish family with BSS. In three siblings, two symptomatic and one asymptomatic, thrombocytopenia with giant platelets, impaired aggregation to ristocetin and impaired Ib/IX/V complex was diagnosed. Additionally, in each of these three persons, karyotype analysis performed on peripheral blood lymphocytes showed a mosaic presence of supernumerary small marker chromosome (sSMC).
keywords:

Bernard-Soulier syndrome, Ib/IX/V glycoprotein complex, supernumerary small marker chromosome
Termedia
About us Contact
Copyright notice Privacy policy Advertising policy Contact us
Quick links
Journals Books eBooks Events
© 2024 Termedia Sp. z o.o.
Developed by Bentus.