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Inicio Allergologia et Immunopathologia Novel WASP mutation in a patient with Wiskott–Aldrich syndrome: Case report an...
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Vol. 44. Issue 5.
Pages 450-454 (September - October 2016)
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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
M. Eghbalia, M. Sadeghi-Shabestarib, F. Najmi Varzanehc,d, A. Zare Bidokic, N. Rezaeia,c,d,
Corresponding author

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
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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.


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.

Recurrent infection
Novel mutation
Wiskott–Aldrich syndrome


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