Analysis of clinical and molecular genetic characteristics of Wiskott-Aldrich syndrome and X-linked thrombocytopenia

Introduction. Wiskott-Aldrich syndrome is a rare X-linked disorder characterized by microthrombocytopenia, eczema, and recurrent infections. It is caused by mutations of the WAS gene which encodes the WAS protein (WASp) – a key regulator of actin polymerization in hematopoietic cells. Mutations with...

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Autores principales:	Doina TURCAN, Lucia ANDRIES, Alexandr DORIF, Victoria SACARA
Formato:	article
Lenguaje:	EN FR RO RU
Publicado:	Asociatia de Biosiguranta si Biosecuritate 2021
Materias:	wiskott aldrich syndrome x-linked thrombocytopenia immunodeﬁciency Medicine R Science Q
Acceso en línea:	https://doaj.org/article/7a8d87db532b4782af038dc2d666bd34
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spelling	oai:doaj.org-article:7a8d87db532b4782af038dc2d666bd342021-12-02T17:22:54ZAnalysis of clinical and molecular genetic characteristics of Wiskott-Aldrich syndrome and X-linked thrombocytopenia10.38045/ohrm.2021.3.102887-34582587-3466https://doaj.org/article/7a8d87db532b4782af038dc2d666bd342021-06-01T00:00:00Zhttps://journal.ohrm.bba.md/index.php/journal-ohrm-bba-md/article/view/141/99https://doaj.org/toc/2887-3458https://doaj.org/toc/2587-3466Introduction. Wiskott-Aldrich syndrome is a rare X-linked disorder characterized by microthrombocytopenia, eczema, and recurrent infections. It is caused by mutations of the WAS gene which encodes the WAS protein (WASp) – a key regulator of actin polymerization in hematopoietic cells. Mutations within the WASp gene result in a wide heterogeneity of clinical disease, ranging from ‘classical WAS’ to mild asymptomatic thrombocytopenia (X-linked thrombocytopenia [XLT]), or congenital neutropenia (X-lined neutropenia [XLN]). Case presentation. This present paper reports a phenotypical and laboratory description of two children diagnosed with WAS and one child diagnosed with XLT. The first case was a six months old male with septicemia, thrombocytopenia, eczema and petechial rash. The second case was a 2 years old boy presenting with complaints of recurrent infections, eczema and thrombocytopenia with small platelet size. The third case was a 16 years old boy who presented with thrombocytopenia and recurrent sinopulmonary infections. Conclusions. Due to a wide spectrum of clinical ﬁndings, the diagnosis of WAS/XLT should be considered in any male patient presenting with petechiae, bruises, and congenital or early-onset thrombocytopenia associated with small platelet size.Doina TURCANLucia ANDRIESAlexandr DORIFVictoria SACARAAsociatia de Biosiguranta si Biosecuritatearticlewiskott aldrich syndromex-linked thrombocytopeniaimmunodeﬁciencyMedicineRScienceQENFRRORUOne Health & Risk Management, Vol 2, Iss 3, Pp 61-66 (2021)
institution	DOAJ
collection	DOAJ
language	EN FR RO RU
topic	wiskott aldrich syndrome x-linked thrombocytopenia immunodeﬁciency Medicine R Science Q
spellingShingle	wiskott aldrich syndrome x-linked thrombocytopenia immunodeﬁciency Medicine R Science Q Doina TURCAN Lucia ANDRIES Alexandr DORIF Victoria SACARA Analysis of clinical and molecular genetic characteristics of Wiskott-Aldrich syndrome and X-linked thrombocytopenia
description	Introduction. Wiskott-Aldrich syndrome is a rare X-linked disorder characterized by microthrombocytopenia, eczema, and recurrent infections. It is caused by mutations of the WAS gene which encodes the WAS protein (WASp) – a key regulator of actin polymerization in hematopoietic cells. Mutations within the WASp gene result in a wide heterogeneity of clinical disease, ranging from ‘classical WAS’ to mild asymptomatic thrombocytopenia (X-linked thrombocytopenia [XLT]), or congenital neutropenia (X-lined neutropenia [XLN]). Case presentation. This present paper reports a phenotypical and laboratory description of two children diagnosed with WAS and one child diagnosed with XLT. The first case was a six months old male with septicemia, thrombocytopenia, eczema and petechial rash. The second case was a 2 years old boy presenting with complaints of recurrent infections, eczema and thrombocytopenia with small platelet size. The third case was a 16 years old boy who presented with thrombocytopenia and recurrent sinopulmonary infections. Conclusions. Due to a wide spectrum of clinical ﬁndings, the diagnosis of WAS/XLT should be considered in any male patient presenting with petechiae, bruises, and congenital or early-onset thrombocytopenia associated with small platelet size.
format	article
author	Doina TURCAN Lucia ANDRIES Alexandr DORIF Victoria SACARA
author_facet	Doina TURCAN Lucia ANDRIES Alexandr DORIF Victoria SACARA
author_sort	Doina TURCAN
title	Analysis of clinical and molecular genetic characteristics of Wiskott-Aldrich syndrome and X-linked thrombocytopenia
title_short	Analysis of clinical and molecular genetic characteristics of Wiskott-Aldrich syndrome and X-linked thrombocytopenia
title_full	Analysis of clinical and molecular genetic characteristics of Wiskott-Aldrich syndrome and X-linked thrombocytopenia
title_fullStr	Analysis of clinical and molecular genetic characteristics of Wiskott-Aldrich syndrome and X-linked thrombocytopenia
title_full_unstemmed	Analysis of clinical and molecular genetic characteristics of Wiskott-Aldrich syndrome and X-linked thrombocytopenia
title_sort	analysis of clinical and molecular genetic characteristics of wiskott-aldrich syndrome and x-linked thrombocytopenia
publisher	Asociatia de Biosiguranta si Biosecuritate
publishDate	2021
url	https://doaj.org/article/7a8d87db532b4782af038dc2d666bd34
work_keys_str_mv	AT doinaturcan analysisofclinicalandmoleculargeneticcharacteristicsofwiskottaldrichsyndromeandxlinkedthrombocytopenia AT luciaandries analysisofclinicalandmoleculargeneticcharacteristicsofwiskottaldrichsyndromeandxlinkedthrombocytopenia AT alexandrdorif analysisofclinicalandmoleculargeneticcharacteristicsofwiskottaldrichsyndromeandxlinkedthrombocytopenia AT victoriasacara analysisofclinicalandmoleculargeneticcharacteristicsofwiskottaldrichsyndromeandxlinkedthrombocytopenia
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Analysis of clinical and molecular genetic characteristics of Wiskott-Aldrich syndrome and X-linked thrombocytopenia

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