Wiskott-Aldrich syndrome in a female

Abstract

Wiskott-Aldrich syndrome (WAS) is an

Lentiviral vectors transcriptionally targeted to hematopoietic cells by WASP gene proximal promoter sequences

“…Expression of the WASP transgene confers a selective growth advantage to transduced T cells as described in spontaneous reversions of WAS patients [29][30][31] as well as in other models of CD3-activated WASp + cells. 32,33 This observation indicates that the protein expressed in WW-transduced cells is functional. Furthermore, we have found that transduction of WAS-deficient T cells with the WW vector results in full reconstitution of cellular defects, including restoration of morphology and CD3-mediated responses (our unpublished data).…”

“…[29][30][31][32][33] Therefore, HVS-WAS/1 cells were transduced with the WW lentiviral vector at MOIs of 0.01, 0.1 and 1 and kept in culture for 39 days. The percentage of WASpexpressing cells was analyzed by flow cytometry at days 7, 27 and 39 after transduction.…”

Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia

“…Her daughter, completely free of XLT symptoms, was also heterozygous for the WASP mutation, but presented a random pattern of X-chromosome inactivation. Females with clinical signs of WAS and a random pattern of X-inactivation have also been described, although in all cases the causative mutation presented a strong WAS phenotype in the male offspring of the family, thus suggesting a major impact of the mutations in WASP protein alteration (23)(24)(25). The data appear to indicate that in XLT mutations an aberrant strong skewed X-inactivation pattern is required to develop clinical symptoms in female carriers.…”

A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP

“…Several of the clinical characteristics and laboratory findings in the patient resemble those found in WAS. They include recurrent infections, eczematous skin rash, thrombocytopenia, T cell lymphopenia affecting (Lutskiy et al, 2002;Proust et al, 2005). Western blot analysis revealed no detectable WASP in lysates of the patient's PHA T blasts (Fig.…”