title: Wiskott-Aldrich syndrome: a disorder of haematopoietic cytoskeletal regulation.
abstract: 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.
authors.affiliation: Molecular Immunology Unit, Institute of Child Health, London WC1N 1EH, United Kingdom. a.thrasher@ich.ac.uk
authors.forename: A J
authors.initials: AJ
authors.lastname: Thrasher
authors.forename: S
authors.initials: S
authors.lastname: Burns
mesh_terms: D051377:Actin-Related Protein 2; D051378:Actin-Related Protein 3; D000199:Actins / Q000378:metabolism / Q000502:physiology; D001792:Blood Platelets / Q000502:physiology; D002352:Carrier Proteins / Q000737:chemistry; D002478:Cells, Cultured; D002633:Chemotaxis; D003598:Cytoskeletal Proteins; D003599:Cytoskeleton / Q000737:chemistry / Q000473:pathology*; D003713:Dendritic Cells / Q000502:physiology; D005353:Fibronectins / Q000032:analysis; D006412:Hematopoietic Stem Cells / Q000737:chemistry / Q000473:pathology*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008264:Macrophages / Q000502:physiology; D017434:Protein Structure, Tertiary / Q000502:physiology; D011506:Proteins / Q000737:chemistry / Q000502:physiology*; D011554:Pseudopodia; D015398:Signal Transduction; D014923:Wiskott-Aldrich Syndrome / Q000276:immunology / Q000503:physiopathology*; D051316:Wiskott-Aldrich Syndrome Protein; D051300:Wiskott-Aldrich Syndrome Protein Family; D020764:cdc42 GTP-Binding Protein / Q000378:metabolism
chemical_list: C495926:ACTR2 protein, human; C495928:ACTR3 protein, human; D051377:Actin-Related Protein 2; D051378:Actin-Related Protein 3; D000199:Actins; D002352:Carrier Proteins; D003598:Cytoskeletal Proteins; D005353:Fibronectins; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C495767:WAS protein, human; C114864:WASF1 protein, human; C109903:WIPF1 protein, human; D051316:Wiskott-Aldrich Syndrome Protein; D051300:Wiskott-Aldrich Syndrome Protein Family; D020764:cdc42 GTP-Binding Protein