CLINICAL FEATURES AND GENETIC ANALYSIS OF SIX PATIENTS WITH WISKOTT-ALDRICH SYNDROME REPORTING TWO NOVEL MUTATIONS: EXPERIENCE OF ERCIYES UNIVERSITY, KAYSERI, TURKEY.
Genet Couns
; 27(1): 9-24, 2016.
Article
em En
| MEDLINE
| ID: mdl-27192888
ABSTRACT
AIM:
The Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by micro-thrombocytopenia, eczema, and recurrent infections. We aimed to share our experience with six children with WAS, including two patients with two novel mutations. MATERIAL ANDMETHOD:
We present phenotypical and laboratory description of six patients with WAS. The initial clinical presentation, biochemical and radiological features, molecular diagnosis together with long-term follow-up data are provided.RESULTS:
The patients showed increased serum levels of IgE; otherwise the serum levels of IgM were decreased. The percentages of CD3+ T cells were decreased or within lower limit. Four patients underwent molecular genetics analysis and Western blot studies; two of them showed unpublished mutations a hemizygous splice site mutation in intron 8 (c.778-2A>T), and a hemizygous deletion in exon10 of the WASP gene (c.1017delT; p.S339fsX444) were detected. Western blot studies confirmed the reduced WAS protein expression in peripheral mononuclear blood cells in four studied patients.CONCLUSIONS:
The major characteristics of patients were thrombocytopenia with decreased mean platelet volume and bleeding. All patients had been previously misdiagnosed as idiopathic thrombocytopenic purpura, demonstrating the importance of a careful differential diagnosis, and intense evaluation.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Wiskott-Aldrich
/
Proteína da Síndrome de Wiskott-Aldrich
Limite:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Humans
/
Infant
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Genet Couns
Assunto da revista:
ETICA
/
GENETICA MEDICA
Ano de publicação:
2016
Tipo de documento:
Article