Buscar en
Allergologia et Immunopathologia
Toda la web
Inicio Allergologia et Immunopathologia Novel WASP mutation in a patient with Wiskott–Aldrich syndrome: Case report an...
Journal Information
Vol. 44. Issue 5.
Pages 450-454 (September - October 2016)
Share
Share
Download PDF
More article options
ePub
Vol. 44. Issue 5.
Pages 450-454 (September - October 2016)
Original Article
DOI: 10.1016/j.aller.2015.11.002
Novel WASP mutation in a patient with Wiskott–Aldrich syndrome: Case report and review of the literature
Visits
...
M. Eghbalia, M. Sadeghi-Shabestarib, F. Najmi Varzanehc,d, A. Zare Bidokic, N. Rezaeia,c,d,
Corresponding author
rezaei_nima@tums.ac.ir

Corresponding author.
a Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
b Division of Pediatric Immunology and Allergy, Children's Hospital, Tabriz University Medical Sciences, Tabriz, Iran
c Molecular Immunology Research Center, Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
d Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran
Article information
Abstract
Full Text
Bibliography
Download PDF
Statistics
Figures (2)
Abstract
Background

The Wiskott–Aldrich syndrome (WAS) is a rare X-linked recessive immunodeficiency disorder, caused by mutations in the WAS protein (WASP) gene and characterised by thrombocytopenia, small platelets, eczema, and recurrent infections associated with increased risk of autoimmunity and malignancy disorders. The gene for WAS has been mapped to the short arm of the X chromosome at Xp 11.22-23 and early detection of patients and diagnosis of new mutation might reduce related complications and increase their life expectancy.

Method and result

We found a novel mutation by sequence analysis of genomic DNA coding of a 9-month old boy suffering from WAS. The mutation was insertion G in exon 10 of WASP gene. The consequence of the G insertion is a premature stop immediately at amino acid 335 (N335X or p.G334GfsX1) and truncated protein.

Conclusion

The mutation analysis is helpful for the diagnosis of WAS patients and also expanding the spectrum of WASP mutations for carrier detection and prenatal diagnosis.

Keywords:
Eczema
Recurrent infection
Thrombocytopenia
Novel mutation
Wiskott–Aldrich syndrome

Article

These are the options to access the full texts of the publication Allergologia et Immunopathologia
Subscriber
Subscriber

If you already have your login data, please click here .

If you have forgotten your password you can you can recover it by clicking here and selecting the option “I have forgotten my password”
Subscribe
Subscribe to

Allergologia et Immunopathologia

Comprar
Comprar acceso al artículo

Comprando el artículo el PDF del mismo podrá ser descargado

Precio 22,50 €

Comprar ahora
Contact
Phone for subscriptions and reporting of errors
From Monday to Friday from 9 a.m. to 6 p.m. (GMT + 1) except for the months of July and August which will be from 9 a.m. to 3 p.m.
Calls from Spain
932 415 960
Calls from outside Spain
+34 932 415 960
E-mail
Article options
Tools
es en pt

¿Es usted profesional sanitario apto para prescribir o dispensar medicamentos?

Are you a health professional able to prescribe or dispense drugs?

Você é um profissional de saúde habilitado a prescrever ou dispensar medicamentos

es en pt
Política de cookies Cookies policy Política de cookies
Utilizamos cookies propias y de terceros para mejorar nuestros servicios y mostrarle publicidad relacionada con sus preferencias mediante el análisis de sus hábitos de navegación. Si continua navegando, consideramos que acepta su uso. Puede cambiar la configuración u obtener más información aquí. To improve our services and products, we use "cookies" (own or third parties authorized) to show advertising related to client preferences through the analyses of navigation customer behavior. Continuing navigation will be considered as acceptance of this use. You can change the settings or obtain more information by clicking here. Utilizamos cookies próprios e de terceiros para melhorar nossos serviços e mostrar publicidade relacionada às suas preferências, analisando seus hábitos de navegação. Se continuar a navegar, consideramos que aceita o seu uso. Você pode alterar a configuração ou obter mais informações aqui.