The Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive disorder characterized by eczema, thrombocytopenia, and immunodeficiency. An allelic variant of the disease is characterized by isolated thrombocytopenia (XLT). The gene responsible for WAS/XLT (WASP) encodes for a 502 amino acid protei
A defect in the formation of uropod-bearing lymphocytes (hand-mirror cells) in patients with the wiskott-aldrich syndrome
β Scribed by Thomas P. McGraw; James D. Folds; John K. Whisnant; Terry M. Phillips; Sanford A. Stass
- Publisher
- John Wiley and Sons
- Year
- 1981
- Tongue
- English
- Weight
- 895 KB
- Volume
- 10
- Category
- Article
- ISSN
- 0361-8609
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β¦ Synopsis
Abstract
The formation of a uropod by lymphocytes (handβmirror cells) represents a morphologic stage of immune activation and motility in lymphocytes. Immune complexes have been previously shown to induce handβmirrorβcell (HMC) formation in human lymphocytes and have been associated with increased number of HMC in acute leukemia. We studied the ability of immune complexes to induce HMC in patients with WiskottβAldrich syndrome (WAS), a disease of cellular immune deficiency. Our findings indicate that lymphocytes from patients with WAS adhere to immune complexes but have a defect in their ability to form HMC when compared with normal human lymphocytes. These results support the concept that immune complexes induce HMC formation and that the HMC is related to the normal cellular immune response.
π SIMILAR VOLUMES
Wiskott-Aldrich syndrome (WAS) is caused by mutations in the gene encoding WAS protein (WASP ). Recently, somatic mosaicism caused by reversions or second-site mutations has been reported in some inherited disorders including WAS. In this article, we describe somatic mosaicism in a 15-year-old WAS p
A case of Wiskott-Aldrich syndrome (WAS) suspected to have a deletion mutation in the WAS protein (WASP) gene had previously been reported (Ariga et al., 1997). Genomic polymerase chain reaction (PCR) suggested that exons 3-7 of the WASP gene were included in the deletion. Present Southern blot stud