WASP-WIP complex in the molecular pathogenesis of Wiskott-Aldrich syndrome

Pediatrics International

Volumn 58, Issue 1, 2016, Pages 4-7

  Sasahara, Yoji ^a  

^a TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

immunological synapse; WASP interacting protein; Wiskott Aldrich syndrome; Wiskott Aldrich syndrome protein

Indexed keywords

CALPAIN; CARRIER PROTEINS AND BINDING PROTEINS; CBL PROTEIN; T LYMPHOCYTE RECEPTOR; UNCLASSIFIED DRUG; WASP INTERACTING PROTEIN; WISKOTT ALDRICH SYNDROME PROTEIN;

ANTIGEN PRESENTING CELL; AUTOSOMAL RECESSIVE DISORDER; CLINICAL FEATURE; FLOW CYTOMETRY; GENETIC ANALYSIS; HUMAN; IMMUNE RESPONSE; IMMUNOLOGICAL SYNAPSE; LYMPHOCYTE ACTIVATION; NATURAL KILLER CELL; NONHUMAN; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN PROTEIN INTERACTION; REVIEW; T LYMPHOCYTE; UBIQUITINATION; WISKOTT ALDRICH SYNDROME; BIOSYNTHESIS; GENETICS; METABOLISM; SIGNAL TRANSDUCTION;

HUMANS; SIGNAL TRANSDUCTION; WISKOTT-ALDRICH SYNDROME; WISKOTT-ALDRICH SYNDROME PROTEIN;

EID: 84956655974     PISSN: 13288067     EISSN: 1442200X     Source Type: Journal    
DOI: 10.1111/ped.12819     Document Type: Review

References (19)

1. Massaad MJ, Ramesh N, Geha RS,. Wiskott-Aldrich syndrome: A comprehensive review. Ann. N. Y. Acad. Sci. 2013; 1285: 26-43.
2. Ramesh N, Geha RS,. Recent advances in the biology of WASP and WIP. Immunol. Res. 2009; 44: 99-111.
3. Sasahara Y, Kawai S, Kumaki S, Ohashi Y, Minegishi M, Tsuchiya S,. Novel mutations, no detectable mRNA and familial genetic analysis of the Wiskott-Aldrich syndrome protein gene in six Japanese patients with Wiskott-Aldrich syndrome. Eur. J. Pediatr. 2000; 159: 23-30.
4. Kanegane H, Nomura K, Miyawaki T, et al., X-linked thrombocytopenia identified by flow cytometric demonstration of defective Wiskott-Aldrich syndrome protein in lymphocytes. Blood 2000; 95: 1110-1.
5. Kawai S, Minegishi M, Ohashi Y, et al., Flow cytometric demonstration of intracytoplasmic Wiskott-Aldrich syndrome protein in peripheral blood lymphocyte subpopulations. J. Immunol. Methods 2002; 260: 195-205.
6. Sasahara Y, Kawai S, Itano M, et al., Epstein-Barr virus-associated lymphoproliferative disorder after unrelated bone marrow transplantation in a young child with Wiskott-Aldrich syndrome. Pediatr. Hematol. Oncol. 1998; 15: 347-52.
7. Sasahara Y, Fujie H, Kumaki S, Ohashi Y, Minegishi M, Tsuchiya S,. Epstein-Barr virus-associated Hodgkin's disease in a patient with Wiskott-Aldrich syndrome. Acta Paediatr. 2011; 90: 1348-51.
8. Lutskiy MI, Sasahara Y, Kenney DM, Rosen FS, Remold-O'Donnell E,. Wiskott-Aldrich syndrome in a female. Blood 2002; 100: 2763-8.
9. Du W, Kumaki S, Uchiyama T, et al., A second-site mutation in the initiation codon of WASP gene results in expansion of subsets of lymphocytes in a Wiskott-Aldrich syndrome patient. Hum. Mutat. 2006; 27: 370-5.
10. Dupré L, Aiuti A, Trifari S, et al., Wiskott-Aldrich syndrome protein regulates lipid raft dynamics during immunological synapse formation. Immunity 2002; 17: 157-66.
11. Sasahara Y, Rachid R, Byrne MJ, et al., Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation. Mol. Cell 2002; 10: 1269-81.
12. Orange JS, Ramesh N, Remold-O'Donnell E, et al., Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunological synapses. Proc. Natl. Acad. Sci. U. S. A. 2002; 99: 11351-6.
13. Kettner A, Kumar L, Anton I, et al., WIP regulates signaling via the high affinity receptor for IgE in mast cells. J. Exp. Med. 2004; 199: 357-68.
14. de la Fuente MA, Sasahara Y, Calamito M, et al., WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP). Proc. Natl. Acad. Sci. U. S. A. 2007; 104: 926-31.
15. Watanabe Y, Sasahara Y, Ramesh N, et al., T cell receptor ligation causes Wiskott-Aldrich syndrome protein degradation and F-actin assembly downregulation. J. Allergy Clin. Immunol. 2013; 132: 648-55.
16. Moulding DA, Blundell MP, Spiller DG, et al., Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia. J. Exp. Med. 2007; 204: 2213-24.
17. Looi CY, Sasahara Y, Watanabe Y, et al., Open conformation of WASP regulates its nuclear localization and gene transcription in myeloid cells. Int. Immunol. 2014; 26: 341-52.
18. Lanzi G, Moratto D, Vairo D, et al., A novel primary immunodeficiency due to deficiency in the WASP-interacting protein WIP. J. Exp. Med. 2012; 209: 29-34.
19. Ouchi-Uchiyama M, Sasahara Y, Kikuchi A, et al., Analyses of genetic and clinical parameters for screening patients with inherited thrombocytopenia with small or normal-sized platelets. Pediatr. Blood Cancer, in press.