✦ LIBER ✦

Wiskott-Aldrich syndrome: a disorder of haematopoietic cytoskeletal regulation

✍ Scribed by Thrasher, Adrian J.; Burns, Siobhan

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 192 KB
Volume: 47
Category: Article
ISSN: 1059-910X
DOI: 10.1002/(sici)1097-0029(19991015)47:2<107::aid-jemt3>3.0.co;2-h

No coin nor oath required. For personal study only.

✦ Synopsis

The Wiskott-Aldrich Syndrome (WAS) is a rare inherited X-linked recessive disease characterised by immune dysregulation and microthrombocytopenia. Recently, the biological mechanisms that are responsible for the pathophysiology of WAS have been shown to be linked to the regulation of the actin cytoskeleton in haematopoietic cells. The WAS protein (WASp) is now known to be a member of a unique family that share similar domain structures, and that are responsible for transduction of signals from the cell membrane to the actin cytoskeleton. The interactions between WASp, the Rho family GTPase Cdc42, and the cytoskeletal organising complex Arp2/3 are probably critical to many of these functions, which, when disturbed, translate into measurable defects of cell polarisation and motility.

📜 SIMILAR VOLUMES

Prenatal molecular diagnosis of Wiskott–

Prenatal molecular diagnosis of Wiskott–Aldrich syndrome by direct mutation analysis

✍ S. Giliani; M. Fiorini; P. Mella; F. Candotti; R. F. Schumacher; G. S. Wengler; 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 317 KB 👁 2 views

We have performed prenatal diagnosis for Wiskott-Aldrich syndrome (WAS) in two unrelated families by direct gene analysis. Using a combined non-radioactive analysis of single-strand conformational polymorphism (SSCP) and heteroduplex formation (HD), followed by automated sequencing, we studied DNA f

Wiskott Aldrich Syndrome in an Israeli f

Wiskott Aldrich Syndrome in an Israeli family: Identification of a novel G40V mutation

✍ M. Rottem; S. Alon-Shalev; Y. Shneor; Y. Hujeirat 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 2 views

Wiskott-Aldrich syndrome and cerebral ne

Wiskott-Aldrich syndrome and cerebral neoplasia: Report of a case with localized reticulum cell sarcoma

✍ Kathleen P. Heidelberger; Dennis P. Legolvan 📂 Article 📅 1974 🏛 John Wiley and Sons 🌐 English ⚖ 474 KB 👁 1 views

A case of Wiskott-Aldrich Syndrome with survival to nineteen-years old is reported. T h e patient developed reticulum cell sarcoma primary in the brain, which was biopsied and treated with irradiation and chemotherapy. When the patient expired 4 '/z months postoperatively, no tumor was present; dea

Cytogenetic studies in Wiskott-Aldrich s

Cytogenetic studies in Wiskott-Aldrich syndrome: Identification of a case with a 6p chromosome abnormality

✍ Johnson, M. P. ;Filipovich, A. H. ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1986 🏛 John Wiley and Sons 🌐 English ⚖ 497 KB 👁 2 views

Lymphocytes from patients with Wiskott-Aldrich syndrome (WAS) were studied 1) with prometaphase G banding to search for minor chromosome anomalies and 2) in mutagen stress assays to assess the extent of chromosome breakage under these conditions. One patient, a sporadic case of WAS, was found to hav

Identification of six novel WASP gene mu

Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome

✍ Rik A. Brooimans; Adriënne J.A.M van den Berg; Rienk Y.J. Tamminga; Tom Revesz; 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 23 KB 👁 2 views

Mutation in the gene encoding the Wiskott-Aldrich Syndrome protein (WASP) has been identified as the genetic defect responsible for WAS, an X-linked primary immunodeficiency disease characterized by eczema, thrombocytopenia, and recurrent infections. In this study, the WASP gene of 7 unrelated patie

Long-term treatment of refractory thromb

Long-term treatment of refractory thrombocytopenia in a patient with wiskott-aldrich syndrome with vincristine, immunoglobulin, and methylprednisolone

✍ Young, Guy; Angiolillo, Anne L. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 2 views

We report a child with Wiskott-Aldrich syndrome with severe, refractory, symptomatic thrombocytopenia who achieved an excellent response to combination therapy with vincristine 1.5 mg/m 2 × 1 day, intravenous immunoglobulin 1 g/kg × 3 days, and methylprednisolone 25 mg/kg × 3 days (VIM) for 7 years