title: The Wiskott-Aldrich syndrome.
abstract: The Wiskott-Aldrich Syndrome (WAS) is an inherited immunodeficiency caused by a variety of mutations in the gene encoding the WAS protein (WASp). WASp is expressed in hematopoetic cells and facilitates the reorganization of the actin cytoskeleton in response to many important cell stimuli. Extensive study of WAS and more recently WASp has given great insight into the relevance of this molecule and related molecules to both basic cell biology and human immune defenses.
authors.affiliation: Division of Immunology, Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, 3615 Civic Center Blvd, Philadelphia, Pennsylvania 19104, USA. orange@mail.med.upenn.edu
authors.forename: J S
authors.initials: JS
authors.lastname: Orange
authors.forename: K D
authors.initials: KD
authors.lastname: Stone
authors.forename: S E
authors.initials: SE
authors.lastname: Turvey
authors.forename: K
authors.initials: K
authors.lastname: Krzewski
mesh_terms: D000818:Animals; D001792:Blood Platelets / Q000378:metabolism / Q000473:pathology; D004485:Eczema / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D015316:Genetic Therapy / Q000639:trends; D006801:Humans; D011506:Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics / Q000276:immunology / Q000473:pathology / Q000628:therapy; D051316:Wiskott-Aldrich Syndrome Protein
chemical_list: D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein