The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function

Disease Markers

Volumn 29, Issue 3-4, 2010, Pages 157-175

  Blundell, Michael P ^a   Worth, Austen ^a,b   Bouma, Gerben ^a   Thrasher, Adrian J ^a,b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

actin polymerization; cell activation; dendritic cells; immune cell function; lymphocytes; migration; Wiskott Aldrich syndrome

Indexed keywords

ACTIN; ANTIBIOTIC AGENT; BRUTON TYROSINE KINASE; CYTOSKELETON PROTEIN; GROWTH FACTOR RECEPTOR BOUND PROTEIN 10; HEMATOPOIETIC CELL KINASE; IMMUNOGLOBULIN; PHOSPHATIDYLINOSITOL 4,5 BISPHOSPHATE; PHOSPHOLIPASE C GAMMA; PROTEIN CDC42; PROTEIN TYROSINE KINASE; RAC PROTEIN; RITUXIMAB; T LYMPHOCYTE RECEPTOR; VASODILATOR STIMULATED PHOSPHOPROTEIN; WISKOTT ALDRICH SYNDROME PROTEIN;

ACTIN POLYMERIZATION; ANTIBIOTIC PROPHYLAXIS; ARTICLE; AUTOIMMUNITY; B LYMPHOCYTE; CARBOXY TERMINAL SEQUENCE; CELL ACTIVATION; CELL ADHESION; CELL FUNCTION; CELL MIGRATION; CELL PROLIFERATION; CHEMICAL STRUCTURE; CHIMERA; DENDRITIC CELL; DISEASE SEVERITY; ECZEMA; GENE DELETION; GENE MUTATION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMATOPOIETIC SYSTEM; HUMAN; IMMUNE DYSREGULATION; IMMUNOCOMPETENT CELL; INFECTION; INFLAMMATION; LYMPHOCYTE; LYMPHOMA; MISSENSE MUTATION; MYELODYSPLASTIC SYNDROME; MYELOID DENDRITIC CELL; NATURAL KILLER CELL; NATURAL KILLER T CELL; NEUTROPENIA; NONHUMAN; PHAGOCYTOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; REGULATORY T LYMPHOCYTE; T LYMPHOCYTE; THROMBOCYTE; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA; WISKOTT ALDRICH SYNDROME;

EID: 78650637719     PISSN: 02780240     EISSN: None     Source Type: Journal    
DOI: 10.3233/DMA-2010-0735     Document Type: Article

References (214)

1. M.H. Albert, T.C. Bittner, S. Nonoyama, L.D. Notarangelo, S. Burns, K. Imai, T. Espanol, A. Fasth, I. Pellier, G. Strauss, T. Morio, B. Gathmann, J.G. Noordzij, C. Fillat, M. Hoenig, M. Nathrath, A.Meindl, P. Pagel, U.Wintergerst, A. Fischer, A.J. Thrasher, B.H. Belohradsky and H.D. Ochs, Xlinked thrombocytopenia (XLT) due to WAS mutations: clinical characteristics, longterm outcome, and treatment options, Blood 115 (2010), 3231-3238.
2. Q. Zhu, M. Zhang, R.M. Blaese, J.M. Derry, A. Junker, U. Francke, S.H. Chen and H.D. Ochs, The WiskottAldrich syndrome and Xlinked congenital thrombocytopenia are caused by mutations of the same gene, Blood 86 (1995),3797-3804.
3. K. Imai, T. Morio, Y. Zhu, Y. Jin, S. Itoh, M. Kajiwara, J. Yata, S. Mizutani, H.D. Ochs and S. Nonoyama, Clinical course of patients with WASP gene mutations, Blood 103 (2004), 456-464.
4. K. Devriendt, A.S. Kim, G. Mathijs, S.G. Frints, M. Schwartz, J.J. Van Den Oord, G.E. Verhoef, M.A. Boogaerts, J.P. Fryns, D. You,M.K. Rosen and P.Vandenberghe, Constitutively activating mutation inWASP causes Xlinked severe congenital neutropenia, Nat Genet 27 (2001), 313-317.
5. P.J. Ancliff, M.P. Blundell, G.O. Cory, Y. Calle, A. Worth, H. Kempski, S. Burns, G.E. Jones, J. Sinclair, C. Kinnon, I.M. Hann, R.E. Gale, D.C. Linch and A.J. Thrasher, Two novel activating mutations in the WiskottAldrich syndrome protein result in congenital neutropenia, Blood 108 (2006), 2182-2189.
6. K. Beel, M.M. Cotter, J. Blatny, J. Bond, G. Lucas, F. Green, V. Vanduppen, D.W. Leung, S. Rooney, O.P. Smith, M.K. Rosen and P. Vandenberghe, A large kindred with Xlinked neutropenia with an I294T mutation of the WiskottAldrich syndrome gene, Br J Haematol 144 (2009), 120-126.
7. K.G. Campellone, N.J. Webb, E.A. Znameroski and M.D. Welch, WHAMM is an Arp2/3 complex activator that binds microtubules and functions in ER to Golgi transport, Cell 134 (2008), 148-161.
8. S. Kurisu and T. Takenawa, The WASP and WAVE family proteins, Genome Biol 10 (2009), 226.
9. E.V. Linardopoulou, S.S. Parghi, C. Friedman, G.E. Osborn, S.M. Parkhurst and B.J. Trask, Human subtelomeric WASH genes encode a new subclass of the WASP family, PLoS Genet 3 (2007), e237.
10. J.M. Derry, H.D. Ochs and U. Francke, Isolation of a novel gene mutated in WiskottAldrich syndrome, Cell 78 (1994), 635-644.
11. H.Miki, K.Miura and T. Takenawa, NWASP, a novel actindepolymerizing protein, regulates the cortical cytoskeletal rearrangement in a PIP2dependent manner downstream of tyrosine kinases, EMBO J 15 (1996), 5326-5335.
12. P. Aspenstrom, U. Lindberg and A. Hall, Two GTPases, Cdc42 and Rac, bind directly to a protein implicated in the immunodeficiency disorderWiskottAldrich syndrome, Curr Biol 6 (1996), 70-75.
13. N. Ramesh, I.M. Anton, J.H. Hartwig and R.S. Geha, WIP, a protein associated with wiskottaldrich syndrome protein, induces actin polymerization and redistribution in lymphoid cells, Proc Natl Acad Sci USA 94 (1997), 14671-14676.
14. H.Y.Ho, R. Rohatgi, L.Ma andM.W.Kirschner, CR16 forms a complex with NWASP in brain and is a novel member of a conserved prolinerich actinbinding protein family, Proc Natl Acad Sci U S A 98 (2001), 11306-11311.
15. M. Kato, H. Miki, S. Kurita, T. Endo, H. Nakagawa, S. Miyamoto and T. Takenawa, WICH, a novel verprolin homology domaincontaining protein that functions cooperatively with NWASP in actinmicrospike formation, Biochem Biophys Res Commun 291 (2002), 41-47.
16. I.M. Anton, W. Lu, B.J. Mayer, N. Ramesh and R.S. Geha, The WiskottAldrich syndrome proteininteracting protein (WIP) binds to the adaptor protein Nck, J Biol Chem 273 (1998), 20992-20995.
17. B.F. Volkman, K.E. Prehoda, J.A. Scott, F.C. Peterson and W.A. Lim, Structure of the NWASP EVH1 domainWIP complex: insight into the molecular basis ofWiskottAldrich Syndrome, Cell 111 (2002), 565-576.
18. F.C. Peterson, Q. Deng, M. Zettl, K.E. Prehoda, W.A. Lim, M. Way and B.F. Volkman, Multiple WASPinteracting protein recognition motifs are required for a functional interaction with NWASP, J Biol Chem 282 (2007), 8446-8453.
19. N.MartinezQuiles, R. Rohatgi, I.M. Anton,M.Medina, S.P. Saville, H. Miki, H. Yamaguchi, T. Takenawa, J.H. Hartwig, R.S.Geha andN. Ramesh,WIP regulatesNWASPmediated actin polymerization and filopodium formation, Nat Cell Biol 3 (2001), 484-491.
20. R.P. Lim, A. Misra, Z. Wu and T. Thanabalu, Analysis of conformational changes inWASP using a split YFP, Biochem Biophys Res Commun 362 (2007), 1085-1089.
21. H.Y. Ho, R. Rohatgi, A.M. Lebensohn, M. Le, J. Li, S.P. Gygi and M.W. Kirschner, Toca1 mediates Cdc42dependent actin nucleation by activating the NWASPWIP complex, Cell 118 (2004), 203-216.
22. H.C. Chou, I.M. Anton, M.R. Holt, C. Curcio, S. Lanzardo, A. Worth, S. Burns, A.J. Thrasher, G.E. Jones and Y. Calle, WIP regulates the stability and localization of WASP to podosomes in migrating dendritic cells, Curr Biol 16 (2006), 2337-2344.
23. M.A. de la Fuente, Y. Sasahara, M. Calamito, I.M. Anton, A. Elkhal, M.D. Gallego, K. Suresh, K. Siminovitch, H.D. Ochs, K.C. Anderson, F.S. Rosen, R.S. Geha and N. Ramesh, WIP is a chaperone for WiskottAldrich syndrome protein (WASP), Proc Natl Acad Sci U S A 104 (2007), 926-931.
24. A. Konno, M. Kirby, S.A. Anderson, P.L. Schwartzberg and F. Candotti, The expression of WiskottAldrich syndrome protein (WASP) is dependent on WASPinteracting protein (WIP), Int Immunol 19 (2007), 185-192.
25. J.N. Luthi,M.J.Gandhi and J.G. Drachman, Xlinked thrombocytopenia caused by a mutation in the WiskottAldrich syndrome (WAS) gene that disrupts interaction with theWAS protein (WASP)interacting protein (WIP), Exp Hematol 31 (2003), 150-158.
26. D.M. Stewart, L. Tian and D.L. Nelson, Mutations that cause the WiskottAldrich syndrome impair the interaction of WiskottAldrich syndrome protein (WASP) with WASP interacting protein, J Immunol 162 (1999), 5019-5024.
27. M.I. Lutskiy, F.S. Rosen and E. Remold O Donnell, Genotypeproteotype linkage in the WiskottAldrich syndrome, J Immunol 175 (2005), 1329-1336.
28. Y. Jin, C.Mazza, J.R.Christie, S.Giliani,M. Fiorini, P.Mella, F. Gandellini, D.M. Stewart, Q. Zhu, D.L. Nelson, L.D. Notarangelo and H.D. Ochs, Mutations of the WiskottAldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation, Blood 104 (2004), 4010-4019.
29. S. Suetsugu, M. Hattori, H. Miki, T. Tezuka, T. Yamamoto, K. Mikoshiba and T. Takenawa, Sustained activation of NWASP through phosphorylation is essential for neurite extension, Dev Cell 3 (2002), 645-658.
30. M.P. Blundell, G. Bouma, J.Metelo, A.Worth, Y. Calle, L.A. Cowell, L.S. Westerberg, D.A. Moulding, S. Mirando, C. Kinnon, G.O. Cory,G.E. Jones, S.B. Snapper, S.O. Burns and A.J. Thrasher, Phosphorylation of WASp is a key regulator of activity and stability in vivo, Proc Natl Acad Sci U S A 106 (2009), 15738-15743.
31. A. Shcherbina, H. Miki, D.M. Kenney, F.S. Rosen, T. Takenawa and E. Remold O Donnell, WASP and NWASP in human platelets differ in sensitivity to protease calpain, Blood 98 (2001), 2988-2991.
32. A. Oda, H.D. Ochs, B.J. Druker, K. Ozaki, C. Watanabe, M. Handa, Y. Miyakawa and Y. Ikeda, Collagen induces tyrosine phosphorylation of WiskottAldrich syndrome protein in human platelets, Blood 92 (1998), 1852-1858.
33. S. Tsuboi, Requirement for a complex of WiskottAldrich syndrome protein (WASP) with WASP interacting protein in podosome formation inmacrophages, J Immunol 178 (2007), 2987-2995.
34. S. Tsuboi and J. Meerloo, WiskottAldrich syndrome protein is a key regulator of the phagocytic cup formation in macrophages, J Biol Chem 282 (2007), 34194-34203.
35. Y. Sasahara, R. Rachid, M.J. Byrne, M.A. de la Fuente, R.T. Abraham, N. Ramesh and R.S. Geha, Mechanism of recruitment of WASP to the immunological synapse and of its activation following TCR ligation, Mol Cell 10 (2002), 1269-1281.
36. D.N. Savoy, D.D. Billadeau and P.J. Leibson, Cutting edge: WIP, a binding partner for WiskottAldrich syndrome protein, cooperateswithVav in the regulation of T cell activation, J Immunol 164 (2000), 2866-2870.
37. V. Moreau, F. Frischknecht, I. Reckmann, R. Vincentelli, G. Rabut, D. Stewart and M. Way, A complex of NWASP and WIP integrates signalling cascades that lead to actin polymerization, Nat Cell Biol 2 (2000), 441-448.
38. K.E. Prehoda, J.A. Scott,M.R.Dyche andW.A. Lim, Integration of multiple signals through cooperative regulation of the NWASPArp2/ 3 complex, Science 290 (2000), 801-806.
39. R. Rohatgi, H.Y. Ho and M.W. Kirschner, Mechanism of NWASP activation by CDC42 and phosphatidylinositol 4, 5bisphosphate, J Cell Biol 150 (2000), 1299-1310.
40. H.N. Higgs and T.D. Pollard, Activation by Cdc42 and PIP(2) of WiskottAldrich syndrome protein (WASp) stimulates actin nucleation by Arp2/3 complex, J Cell Biol 150 (2000), 1311-1320.
41. K. Imai, S. Nonoyama, H. Miki, T. Morio, K. Fukami, Q. Zhu, A. Aruffo, H.D. Ochs, J. Yata and T. Takenawa, The pleckstrin homology domain of the WiskottAldrich syndrome protein is involved in the organization of actin cytoskeleton, Clin Immunol 92 (1999), 128-137.
42. R. Insall and L. Machesky, PH domains in WASP - a bug in the system? WiskottAldrich syndrome protein, Trends Cell Biol 9 (1999), 211-212.
43. H. Miki, S. Suetsugu and T. Takenawa, WAVE, a novel WASPfamily protein involved in actin reorganization induced by Rac, EMBO J 17 (1998), 6932-6941.
44. S.B. Rong and M. Vihinen, Structural basis of WiskottAldrich syndrome causing mutations in the WH1 domain, J Mol Med 78 (2000), 530-537.
45. S. Suetsugu, H. Miki, H. Yamaguchi and T. Takenawa, Requirement of the basic region of NWASP/ WAVE2 for actinbased motility, Biochem Biophys Res Commun 282 (2001), 739-744.
46. L. Hemsath, R. Dvorsky, D. Fiegen, M.F. Carlier and M.R. Ahmadian, An electrostatic steering mechanism of Cdc42 recognition byWiskottAldrich syndrome proteins, Mol Cell 20 (2005), 313-324.
47. R. Kolluri, K.F. Tolias, C.L. Carpenter, F.S. Rosen and T. Kirchhausen, Direct interaction of the WiskottAldrich syndrome protein with the GTPase Cdc42, Proc Natl Acad Sci U S A 93 (1996), 5615-5618.
48. M.G. Rudolph, P. Bayer, A. Abo, J. Kuhlmann, I.R. Vetter and A. Wittinghofer, The Cdc42/Rac interactive binding region motif of theWiskott Aldrich syndrome protein (WASP) is necessary but not sufficient for tight binding to Cdc42 and structure formation, Journal of Biological Chemistry 273 (1998), 18067-18076.
49. M. Symons, J.M. Derry, B. Karlak, S. Jiang, V. Lemahieu, F. McCormick, U. Francke and A. Abo, WiskottAldrich syndrome protein, a novel effector for theGTPaseCDC42Hs, is implicated in actin polymerization, Cell 84 (1996), 723-734.
50. N. AbdulManan, B. Aghazadeh, G.A. Liu, A. Majumdar, O. Ouerfelli, K.A. Siminovitch and M.K. Rosen, Structure of Cdc42 in complex with the GTPasebinding domain of the WiskottAldrich syndrome protein, Nature 399 (1999), 379-383.
51. P.D. Burbelo, D. Drechsel and A. Hall, A conserved binding motif defines numerous candidate target proteins for both Cdc42 and Rac GTPases, J Biol Chem 270 (1995), 29071-29074.
52. M. Buck, W. Xu and M.K. Rosen, Global disruption of the WASP autoinhibited structure on Cdc42 binding. Ligand displacement as a novel method for monitoring amide hydrogen exchange, Biochemistry 40 (2001), 14115-14122.
53. A.S. Kim, L.T. Kakalis, N. AbdulManan, G.A. Liu and M.K. Rosen, Autoinhibition and activation mechanisms of the WiskottAldrich syndrome protein, Nature 404 (2000), 151-158.
54. M. Lorenz, H. Yamaguchi, Y. Wang, R.H. Singer and J. Condeelis, Imaging sites of Nwasp activity in lamellipodia and invadopodia of carcinoma cells, Curr Biol 14 (2004), 697-703.
55. P. Sukumvanich, V. DesMarais, C.V. Sarmiento, Y. Wang, I. Ichetovkin, G.Mouneimne, S. Almo and J. Condeelis, Cellular localization of activated NWASP using a conformationsensitive antibody, Cell Motil Cytoskeleton 59 (2004), 141-152.
56. M. Cammer, J.C. Gevrey, M. Lorenz, A. Dovas, J. Condeelis and D. Cox, The mechanism of CSF1induced WiskottAldrich syndrome protein activation in vivo: a role for phosphatidylinositol 3kinase and Cdc42, J Biol Chem 284 (2009), 23302-23311.
57. E. Torres and M.K. Rosen, Protein tyrosine kinase and GTPase signals cooperate to phosphorylate and activate WASP/NWASP, J Biol Chem 281 (2006), 3513-3520.
58. H. Park and D. Cox, Cdc42 regulates Fc gamma receptormediated phagocytosis through the activation and phosphorylation of WiskottAldrich syndrome protein (WASP) and neuralWASP, Mol Biol Cell 20 (2009), 4500-4508.
59. E. Torres and M.K. Rosen, Contingent phosphorylation/ dephosphorylation provides a mechanism of molecular memory in WASP, Mol Cell 11 (2003), 1215-1227.
60. K. Badour, J. Zhang, F. Shi, Y. Leng, M. Collins and K.A. Siminovitch, Fyn and PTPPESTmediated Regulation of WiskottAldrich Syndrome Protein (WASp) Tyrosine Phosphorylation Is Required for Coupling T Cell Antigen Receptor Engagement to WASp Effector Function and T Cell Activation, J Exp Med 199 (2004), 99-112.
61. J.L.Cannon, C.M. Labno, G.Bosco, A. Seth,M.H.McGavin, K.A. Siminovitch, M.K. Rosen and J.K. Burkhardt, Wasp recruitment to the T cell:APC contact site occurs independently of Cdc42 activation, Immunity 15 (2001), 249-259.
62. G.O. Cory, R. Garg, R. Cramer and A.J. Ridley, Phosphorylation of tyrosine 291 enhances the ability ofWASp to stimulate actin polymerization and filopodium formation.WiskottAldrich Syndrome protein, J Biol Chem 277 (2002), 45115-45121.
63. M.M. Miller, S. Lapetina, S.M. MacGrath, M.K. Sfakianos, T.D. Pollard and A.J. Koleske, Regulation of actin polymerization and adhesiondependent cell edge protrusion by the Ablrelated gene (Arg) tyrosine kinase and NWASp, Biochemistry 49 (2010), 2227-2234.
64. D.A. Adamovich, F. Nakamura, A. Worth, S. Burns, A.J. Thrasher, J.H. Hartwig and S.B. Snapper, Activating mutations of NWASP alter Shigella pathogenesis, Biochem Biophys Res Commun 384 (2009), 284-289.
65. F. Castellano, C. Le Clainche, D. Patin, M.F. Carlier and P. Chavrier, A WASpVASP complex regulates actin polymerization at the plasma membrane, EMBO J 20 (2001), 5603-5614.
66. D.Yarar, J.A.DAlessio, R.L. Jeng andM.D.Welch,Motility Determinants in WASP Family Proteins, Mol Biol Cell 13 (2002), 4045-4059.
67. Y. Baba, S. Nonoyama, M. Matsushita, T. Yamadori, S. Hashimoto, K. Imai, S. Arai, T. Kunikata, M. Kurimoto, T. Kurosaki, H.D. Ochs, J. Yata, T. Kishimoto and S. Tsukada, Involvement of wiskottaldrich syndrome protein in Bcell cytoplasmic tyrosine kinase pathway, Blood 93 (1999), 2003-2012.
68. S. Banin, I. Gout and P. Brickell, Interaction between WiskottAldrich Syndrome protein (WASP) and the Fyn proteintyrosine kinase, Mol Biol Rep 26 (1999), 173-177.
69. S. Banin, O. Truong,D.R.Katz,M.D.Waterfield, P.M. Brickell and I. Gout, WiskottAldrich syndrome protein (WASp) is a binding partner for cSrc family proteintyrosine kinases, Curr Biol 6 (1996), 981-988.
70. G.O. Cory, L. MacCarthy Morrogh, S. Banin, I. Gout, P.M. Brickell, R.J. Levinsky, C. Kinnon and R.C. Lovering, Evidence that the WiskottAldrich syndrome protein may be involved in lymphoid cell signaling pathways, J Immunol 157 (1996), 3791-3795.
71. B.S. Gross, J.I.Wilde, L. Quek, H. Chapel, D.L. Nelson and S.P. Watson, Regulation and function of WASp in platelets by the collagen receptor, glycoprotein VI, Blood 94 (1999), 4166-4176.
72. R. Guinamard, P. Aspenstrom, M. Fougereau, P. Chavrier and J.C.Guillemot, Tyrosine phosphorylation of theWiskottAldrich syndrome protein by Lyn and Btk is regulated by CDC42, FEBS Lett 434 (1998), 431-436.
73. O.M.RiveroLezcano, A.Marcilla, J.H. Sameshima andK.C. Robbins,WiskottAldrich syndrome protein physically associates with Nck through Src homology 3 domains, Mol Cell Biol 15 (1995), 5725-5731.
74. M.P. Scott, F. Zappacosta, E.Y. Kim, R.S. Annan and W.T. Miller, Identification of novel SH3 domain ligands for the Src family kinase Hck. WiskottAldrich syndrome protein (WASP), WASPinteracting protein (WIP), and ELMO1, J Biol Chem 277 (2002), 28238-28246.
75. H.Y. She, S. Rockow, J. Tang, R. Nishimura, E.Y. Skolnik, M. Chen, B. Margolis and W. Li,WiskottAldrich syndrome protein is associated with the adapter protein Grb2 and the epidermal growth factor receptor in living cells, Mol Biol Cell 8 (1997), 1709-1721.
76. S. Benesch, S. Lommel, A. Steffen, T.E. Stradal, N. Scaplehorn, M.Way, J.Wehland and K. Rottner, Phosphatidylinositol 4,5biphosphate (PIP2)induced vesicle movement depends on NWASP and involves Nck, WIP, and Grb2, J Biol Chem 277 (2002), 37771-37776.
77. M.F. Carlier, P. Nioche, I. BroutinLHermite, R. Boujemaa, C. LeClainche, C. Egile, C.Garbay, A.Ducruix, P. Sansonetti and D. Pantaloni, GRB2 links signaling to actin assembly by enhancing interaction of neural WiskottAldrich syndrome protein (NWASp) with actinrelated protein (ARP2/3) complex, J Biol Chem 275 (2000), 21946-21952.
78. R. Rohatgi, P. Nollau, H.Y. Ho, M.W. Kirschner and B.J. Mayer, Nck and phosphatidylinositol 4,5bisphosphate synergistically activate actin polymerization through the NWASPArp2/ 3 pathway, J Biol Chem 276 (2001), 26448-26452.
79. A. Oda, H.D. Ochs, L.A. Lasky, S. Spencer, K. Ozaki, M. Fujihara, M. Handa, K. Ikebuchi and H. Ikeda, CrkL is an adapter for WiskottAldrich syndrome protein and Syk, Blood 97 (2001), 2633-2639.
80. P.M. Finan, C.J. Soames, L. Wilson, D.L. Nelson, D.M. Stewart, O. Truong, J.J. Hsuan and S. Kellie, Identification of regions of theWiskottAldrich syndrome protein responsible for association with selected Src homology 3 domains, J Biol Chem 271 (1996), 26291-26295.
81. K. Badour, M.K. McGavin, J. Zhang, S. Freeman, C. Vieira, D. Filipp, M. Julius, G.B.Mills and K.A. Siminovitch, Interaction of the WiskottAldrich syndrome protein with sorting nexin 9 is required for CD28 endocytosis and cosignaling in T cells, Proc Natl Acad Sci U S A 104 (2007), 1593-1598.
82. J.F. Cote, P.L. Chung, J.F. Theberge, M. Halle, S. Spencer, L.A. Lasky andM.L. Tremblay, PSTPIP is a substrate of PTPPEST and serves as a scaffold guiding PTPPEST toward a specific dephosphorylation of WASP, J Biol Chem 277 (2002), 2973-2986.
83. Y. Wu, S.D. Spencer and L.A. Lasky, Tyrosine phosphorylation regulates the SH3mediated binding of the WiskottAldrich syndrome protein to PSTPIP, a cytoskeletalassociated protein, J Biol Chem 273 (1998), 5765-5770.
84. K. Badour, J. Zhang, F. Shi, M.K. McGavin, V. Rampersad, L.A. Hardy, D. Field and K.A. Siminovitch, The WiskottAldrich syndrome protein acts downstream of CD2 and the CD2AP and PSTPIP1 adaptors to promote formation of the immunological synapse, Immunity 18 (2003), 141-154.
85. S.B. Padrick, H.C. Cheng, A.M. Ismail, S.C. Panchal, L.K. Doolittle, S. Kim, B.M. Skehan, J.Umetani, C.A. Brautigam, J.M. Leong and M.K. Rosen, Hierarchical regulation of WASP/WAVE proteins, Mol Cell 32 (2008), 426-438.
86. C.Yang,M.Huang, J.DeBiasio,M. Pring,M. Joyce, H.Miki, T. Takenawa and S.H. Zigmond, Profilin enhances Cdc42induced nucleation of actin polymerization, J Cell Biol 150 (2000), 1001-1012.
87. K.J. Amann and T.D. Pollard, The Arp2/3 complex nucleates actin filament branches from the sides of preexisting filaments, Nat Cell Biol 3 (2001), 306-310.
88. L. Blanchoin, K.J. Amann, H.N. Higgs, J.B. Marchand, D.A. Kaiser and T.D. Pollard, Direct observation of dendritic actin filament networks nucleated by Arp2/3 complex and WASP/Scar proteins, Nature 404 (2000), 1007-1011.
89. R.D. Mullins, J.A. Heuser and T.D. Pollard, The interaction of Arp2/3 complex with actin: nucleation, high affinity pointed end capping, and formation of branching networks of filaments, Proc Natl Acad Sci U S A 95 (1998), 6181-6186.
90. H. Falet, K.M. Hoffmeister, R. Neujahr, J.E. Italiano, Jr., T.P. Stossel, F.S. Southwick and J.H. Hartwig, Importance of free actin filament barbed ends for Arp2/3 complex function in platelets and fibroblasts, Proc Natl Acad Sci U S A 99 (2002), 16782-16787.
91. D. Pantaloni, R. Boujemaa, D. Didry, P. Gounon and M.F. Carlier, The Arp2/3 complex branches filament barbed ends: functional antagonism with capping proteins, Nat Cell Biol 2 (2000), 385-391.
92. L.M. Machesky and R.H. Insall, Scar1 and the related WiskottAldrich syndrome protein, WASP, regulate the actin cytoskeleton through the Arp2/3 complex, Curr Biol 8 (1998), 13471356.
93. R. Rohatgi, L. Ma, H. Miki, M. Lopez, T. Kirchhausen, T. Takenawa and M.W. Kirschner, The interaction between NWASP and the Arp2/3 complex links Cdc42dependent signals to actin assembly, Cell 97 (1999), 221231.
94. S.C. Panchal, D.A. Kaiser, E. Torres, T.D. Pollard and M.K. Rosen, A conserved amphipathic helix in WASP/Scar proteins is essential for activation of Arp2/3 complex, Nat Struct Biol 10 (2003), 591598.
95. G.O. Cory, R. Cramer, L. Blanchoin and A.J. Ridley, Phosphorylation of the WASPVCA domain increases its affinity for the Arp2/3 complex and enhances actin polymerization by WASP, Mol.Cell 11 (2003), 12291239.
96. K. Hufner, H.N. Higgs, T.D. Pollard, C. Jacobi, M. Aepfelbacher and S. Linder, The verprolinlike central (vc) region of WiskottAldrich syndrome protein induces Arp2/3 complexdependent actin nucleation, J Biol Chem 276 (2001), 3576135767.
97. A.E. Kelly, H. Kranitz, V. Dotsch and R.D. Mullins, Actin binding to the central domain of WASP/Scar proteins plays a critical role in the activation of the Arp2/3 complex, J Biol Chem 281 (2006), 1058910597.
98. J.B. Marchand, D.A. Kaiser, T.D. Pollard and H.N. Higgs, Interaction of WASP/Scar proteins with actin and vertebrate Arp2/3 complex, Nat Cell Biol 3 (2001), 7682.
99. O. Parolini, S. Berardelli, E. Riedl, C. BelloFernandez, H. Strobl, O. Majdic and W. Knapp, Expression of WiskottAldrich syndrome protein (WASP) gene during hematopoietic differentiation, Blood 90 (1997), 7075.
100. C. Yan, N. MartinezQuiles, S. Eden, T. Shibata, F. Takeshima, R. Shinkura, Y. Fujiwara, R. Bronson, S.B. Snapper, M.W. Kirschner, R. Geha, F.S. Rosen and F.W. Alt, WAVE2 deficiency reveals distinct roles in embryogenesis and Racmediated actinbased motility, EMBO J 22 (2003), 36023612.
101. S.B. Snapper, F. Takeshima, I. Anton, C.H. Liu, S.M. Thomas, D. Nguyen, D. Dudley, H. Fraser, D. Purich, M. LopezIlasaca, C. Klein, L.Davidson, R. Bronson, R.C.Mulligan, F. Southwick, R. Geha, M.B. Goldberg, F.S. Rosen, J.H. Hartwig and F.W. Alt, NWASP deficiency reveals distinct pathways for cell surface projections and microbial actinbased motility, Nat Cell Biol 3 (2001), 897-904.
102. S.H. Soderling, L.K. Langeberg, J.A. Soderling, S.M.Davee, R. Simerly, J. Raber and J.D. Scott, Loss of WAVE1 causes sensorimotor retardation and reduced learning and memory in mice, Proc Natl Acad Sci U S A 100 (2003), 1723-1728.
103. W.L. Greer, P.C. Kwong, M. Peacocke, P. Ip, L.A. Rubin and K.A. Siminovitch, Xchromosome inactivation in the WiskottAldrich syndrome: a marker for detection of the carrier state and identification of cell lineages expressing the gene defect, Genomics 4 (1989), 60-67.
104. H. Inoue, H.Kurosawa, S.Nonoyama, K. Imai,H.Kumazaki, T. Matsunaga, Y. Sato, K. Sugita and M. Eguchi, Xlinked thrombocytopenia in a girl, Br J Haematol 118 (2002), 1163-1165.
105. A. Proust, B. Guillet, I. Pellier, P. Rachieru, C. Hoarau, S. Claeyssens, C. Leonard, S. Charrier, W. Vainchenker, G. Tchernia and J. Delaunay, Recurrent V75M mutation within the WiskottAldrich syndrome protein: description of a homozygous female patient, Eur J Haematol 75 (2005), 54-59.
106. C. Lacout, E. Haddad, S. Sabri, F. Svinarchouk, L. Garcon, C. Capron, A. Foudi, R. Mzali, S.B. Snapper, F. Louache, W. Vainchenker and D. Dumenil, A defect in hematopoietic stem cell migration explains the nonrandom Xchromosome inactivation in carriers of WiskottAldrich syndrome, Blood 102 (2003), 1282-1289.
107. D.A. Moulding, M.P. Blundell, D.G. Spiller, M.R. White, G.O. Cory, Y. Calle, H. Kempski, J. Sinclair, P.J. Ancliff, C. Kinnon, G.E. Jones and A.J. Thrasher, Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in Xlinked neutropenia, J.Exp.Med. 204 (2007), 2213-2224.
108. A. MeyerBahlburg, S. BeckerHerman, S. HumbletBaron, S. Khim, M. Weber, G. Bouma, A.J. Thrasher, F.D. Batista and D.J. Rawlings, WiskottAldrich syndrome protein deficiency in B cells results in impaired peripheral homeostasis, Blood 112 (2008), 4158-4169.
109. L.S. Westerberg, M.A. de la Fuente, F. Wermeling, H.D. Ochs, M.C. Karlsson, S.B. Snapper and L.D. Notarangelo, WASP confers selective advantage for specific hematopoietic cell populations and serves a unique role in marginal zone Bcell homeostasis and function, Blood 112 (2008), 4139-4147.
110. T. Wada, A. Konno, S.H. Schurman, E.K. Garabedian, S.M. Anderson, M. Kirby, D.L. Nelson and F. Candotti, Secondsite mutation in the WiskottAldrich syndrome (WAS) protein gene causes somatic mosaicism in two WAS siblings, J Clin Invest 111 (2003), 1389-1397.
111. T. Ariga, M. Yamada, T. Wada, S. Saitoh and Y. Sakiyama, Detection of lymphocytes and granulocytes expressing the mutant WASP message in carriers of WiskottAldrich syndrome, Br J Haematol 104 (1999), 893-900.
112. T. Ariga, T. Kondoh, K. Yamaguchi, M. Yamada, S. Sasaki, D.L. Nelson, H. Ikeda, K. Kobayashi, H. Moriuchi and Y. Sakiyama, Spontaneous in vivo reversion of an inherited mutation in the WiskottAldrich syndrome, J Immunol 166 (2001), 5245-5249.
113. B.R. Davis and F. Candotti, Revertant somatic mosaicism in the WiskottAldrich syndrome, Immunol Res 44 (2009), 127-131.
114. B.R. Davis, Q. Yan, J.H. Bui, K. Felix, D. Moratto, L.M. Muul, N.L. Prokopishyn, R.M. Blaese and F. Candotti, Somatic mosaicism in the WiskottAldrich syndrome: molecular and functional characterization of genotypic revertants, Clin Immunol 135 (2010), 72-83.
115. A. Konno, T. Wada, S.H. Schurman, E.K. Garabedian, M. Kirby, S.M. Anderson and F. Candotti, Differential contribution ofWiskottAldrich syndrome protein to selective advantage in Tand Bcell lineages, Blood 103 (2004), 676-678.
116. S. Trifari, S. Scaramuzza, M. Catucci, M. Ponzoni, L. Mollica, R. Chiesa, F. Cattaneo, F. Lafouresse, R. Calvez, W. Vermi, D.Medicina, M.C. Castiello, F.Marangoni, M. Bosticardo, C. Doglioni, M. Caniglia, A. Aiuti, A. Villa, M.G. Roncarolo and L. Dupre, Revertant T lymphocytes in a patient with WiskottAldrich syndrome: analysis of function and distribution in lymphoid organs, J Allergy Clin Immunol 125 (2010), 439-448 e438.
117. W. Du, S. Kumaki, T. Uchiyama, A. Yachie, C. Yeng Looi, S. Kawai, M. Minegishi, N. Ramesh, R.S. Geha, Y. Sasahara and S. Tsuchiya, A secondsite mutation in the initiation codon of WAS (WASP) results in expansion of subsets of lymphocytes in an WiskottAldrich syndrome patient, Hum Mutat 27 (2006), 370-375.
118. K. Boztug, M. Germeshausen, I. Avedillo Diez, V. Gulacsy, J. Diestelhorst, M. Ballmaier, K. Welte, L. Marodi, L. Chernyshova and C. Klein, Multiple independent secondsite mutations in two siblings with somatic mosaicism for WiskottAldrich syndrome, Clin Genet 74 (2008), 68-74.
119. M.I. Lutskiy, D.S. Beardsley, F.S. Rosen and E. Remold O Donnell, Mosaicism of NK cells in a patient withWiskottAldrich syndrome, Blood 106 (2005), 2815-2817.
120. H.D. Ochs, S.J. Slichter, L.A. Harker, W.E. Von Behrens, R.A. Clark and R.J. Wedgwood, The WiskottAldrich syndrome: studies of lymphocytes, granulocytes, and platelets, Blood 55 (1980), 243-252.
121. J.Y. Park, M. Kob, A.P. Prodeus, F.S. Rosen, A. Shcherbina and E. RemoldODonnell, Early deficit of lymphocytes in WiskottAldrich syndrome: possible role ofWASP in human lymphocyte maturation, Clin Exp Immunol 136 (2004), 104-110.
122. S.L. Rawlings, G.M. Crooks, D. Bockstoce, L.W. Barsky, R. Parkman and K.I. Weinberg, Spontaneous apoptosis in lymphocytes from patients with WiskottAldrich syndrome: correlation of accelerated cell death and attenuated bcl2 expression, Blood 94 (1999), 3872-3882.
123. D.Kenney, L. Cairns, E. Remold O Donnell, J. Peterson, F.S. Rosen and R. Parkman, Morphological abnormalities in the lymphocytes of patients with theWiskottAldrich syndrome, Blood 68 (1986), 1329-1332.
124. S. Majstoravich, J. Zhang, S. NicholsonDykstra, S. Linder, W. Friedrich, K.A. Siminovitch andH.N.Higgs, Lymphocyte microvilli are dynamic, actindependent structures that do not require WiskottAldrich syndrome protein (WASp) for their morphology, Blood 104 (2004), 1396-1403.
125. L. Dupre, A. Aiuti, S. Trifari, S. Martino, P. Saracco, C. Bordignon and M.G. Roncarolo, WiskottAldrich syndrome protein regulates lipid raft dynamics during immunological synapse formation, Immunity 17 (2002), 157-166.
126. L. Dupre, A. Aiuti, S. Trifari, S. Martino, P. Saracco, C. Bordignon and M.G. Roncarolo, WiskottAldrich syndrome protein regulates lipid raft dynamics during immunological synapse formation, Immunity 17 (2002), 157-166.
127. J.L. Cannon and J.K. Burkhardt, Differential roles for WiskottAldrich syndrome protein in immune synapse formation and IL2 production, The Journal of Immunology 173 (2004), 1658-1662.
128. T.N. Sims, T.J. Soos, H.S. Xenias, B. DubinThaler, J.M. Hofman, J.C. Waite, T.O. Cameron, V.K. Thomas, R. Varma, C.H. Wiggins, M.P. Sheetz, D.R. Littman and M.L. Dustin, Opposing effects of PKCtheta andWASp on symmetry breaking and relocation of the immunological synapse, Cell 129 (2007), 773-785.
129. J.E. Ryser, E. RunggerBrandle, C. Chaponnier, G. Gabbiani and P. Vassalli, The area of attachment of cytotoxic T lymphocytes to their target cells shows high motility and polarization of actin, but not myosin, J Immunol 128 (1982), 1159-1162.
130. C. Silvin, B. Belisle and A. Abo, A role for WiskottAldrich syndrome protein in Tcell receptormediated transcriptional activation independent of actin polymerization, J Biol Chem 276 (2001), 21450-21457.
131. V. CottadeAlmeida, L. Westerberg, M.H. Maillard, D. Onaldi, H. Wachtel, P. Meelu, U.I. Chung, R. Xavier, F.W. Alt and S.B. Snapper, Wiskott Aldrich syndrome protein (WASP) and NWASP are critical for T cell development, Proc Natl Acad Sci USA 104 (2007), 15424-15429.
132. K.D. Fischer, K. Tedford and J.M. Penninger, Vav links antigenreceptor signaling to the actin cytoskeleton, Semin Immunol 10 (1998), 317-327.
133. N. Foger, L. Rangell, D.M. Danilenko and A.C. Chan, Requirement for coronin 1 in T lymphocyte trafficking and cellular homeostasis, Science 313 (2006), 839-842.
134. K.L. Randall, T. Lambe, A.L. Johnson, B. Treanor, E. Kucharska, H.Domaschenz, B.Whittle, L.E. Tze, A. Enders, T.L. Crockford, T. BouriezJones, D. Alston, J.G. Cyster, M.J. Lenardo, F. Mackay, E.K. Deenick, S.G. Tangye, T.D. Chan, T. Camidge, R. Brink, C.G. Vinuesa, F.D. Batista, R.J. Cornall and C.C. Goodnow, Dock8 mutations cripple B cell immunological synapses, germinal centers and longlived antibody production, Nat Immunol 10 (2009), 1283-1291.
135. Q. Zhang, J.C. Davis, I.T. Lamborn, A.F. Freeman, H. Jing, A.J. Favreau, H.F.Matthews, J. Davis, M.L. Turner, G. Uzel, S.M. Holland and H.C. Su, Combined immunodeficiency associatedwithDOCK8mutations, NEngl JMed 361 (2009), 2046-2055.
136. M.H. Maillard, V. CottadeAlmeida, F. Takeshima, D.D. Nguyen, P.Michetti, C. Nagler, A.K. Bhan and S.B. Snapper, The WiskottAldrich syndrome protein is required for the function of CD4(+)CD25(+)Foxp3(+) regulatory T cells, J Exp Med 204 (2007), 381-391.
137. S. HumbletBaron, B. Sather, S. Anover, S. BeckerHerman, D.J. Kasprowicz, S. Khim, T. Nguyen, K. HudkinsLoya, C.E. Alpers, S.F. Ziegler, H. Ochs, T. Torgerson, D.J. Campbell and D.J. Rawlings, WiskottAldrich syndrome protein is required for regulatory T cell homeostasis, J Clin Invest 117 (2007), 407-418.
138. F. Marangoni, S. Trifari, S. Scaramuzza, C. Panaroni, S. Martino, L.D.Notarangelo, Z. Baz, A.Metin, F. Cattaneo, A. Villa, A. Aiuti, M. Battaglia, M.G. Roncarolo and L. Dupre, WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells, J Exp Med 204 (2007), 369-380.
139. J. Zhang, A. Shehabeldin, L.A. da Cruz, J. Butler, A.K. Somani, M. McGavin, I. Kozieradzki, A.O. dos Santos, A. Nagy, S. Grinstein, J.M. Penninger and K.A. Siminovitch, Antigen receptorinduced activation and cytoskeletal rearrangement are impaired inWiskottAldrich syndrome proteindeficient lymphocytes, J ExpMed 190 (1999), 1329-1342.
140. S.B. Snapper, F.S. Rosen, E.Mizoguchi, P. Cohen, W. Khan, C.H. Liu, T.L. Hagemann, S.P. Kwan, R. Ferrini, L. Davidson, A.K. Bhan and F.W. Alt, WiskottAldrich syndrome proteindeficient mice reveal a role for WASP in T but not B cell activation, Immunity 9 (1998), 81-91.
141. K.E. Sullivan, C.A. Mullen, R.M. Blaese and J.A. Winkelstein, Amultiinstitutional survey of theWiskottAldrich syndrome, J Pediatr. 125 (1994), 876-885.
142. H.U. Simon,G.B.Mills, S.Hashimoto andK.A. Siminovitch, Evidence for defective transmembrane signaling in B cells from patients with WiskottAldrich syndrome, J Clin Invest 90 (1992), 1396-1405.
143. F. Facchetti, L. Blanzuoli, W. Vermi, L.D. Notarangelo, S. Giliani, M. Fiorini, A. Fasth, D.M. Stewart and D.L. Nelson, Defective actin polymerization in EBVtransformed Bcell lines from patients with the WiskottAldrich syndrome, J Pathol 185 (1998), 99-107.
144. L. Westerberg, G. Greicius, S.B. Snapper, P. Aspenstrom and E. Severinson, Cdc42, Rac1, and the WiskottAldrich syndrome protein are involved in the cytoskeletal regulation of B lymphocytes, Blood 98 (2001), 1086-1094.
145. L. Westerberg, M. Larsson, S.J. Hardy, C. Fernandez, A.J. Thrasher and E. Severinson, WiskottAldrich syndrome protein deficiency leads to reduced Bcell adhesion, migration, and homing, and a delayed humoral immune response, Blood 105 (2005), 1144-1152.
146. N. Andreu, J.M. Aran and C. Fillat, Novel membrane cell projection defects in WiskottAldrich syndrome B cells, Int J Mol Med 20 (2007), 445-450.
147. W. Vermi, L. Blanzuoli, M.D. Kraus, P. Grigolato, F. Donato, G. Loffredo, C.E. Marino, D. Alberti, L.D. Notarangelo and F. Facchetti, The sple n in the WiskottAldrich syndrome: histopathologic abnormalities of thewhite pulp correlatewith the clinical phenotype of the disease, Am J Surg Pathol 23 (1999), 182-191.
148. S. de Noronha, S. Hardy, J. Sinclair, M.P. Blundell, J. Strid, O. Schulz, J. Zwirner, G.E. Jones, D.R. Katz, C. Kinnon and A.J. Thrasher, Impaired dendriticcell homing in vivo in the absence ofWiskottAldrich syndrome protein, Blood 105 (2005), 1590-1597.
149. L.L. Lanier, Evolutionary struggles between NK cells and viruses, Nat Rev Immunol 8 (2008), 259-268.
150. C.A. Biron, Activation and function of natural killer cell responses during viral infections, CurrOpin Immunol 9 (1997), 24-34.
151. J.S. Orange, N. Ramesh, E. RemoldODonnell, Y. Sasahara, L. Koopman, M. Byrne, F.A. Bonilla, F.S. Rosen, R.S. Geha and J.L. Strominger, WiskottAldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cellactivating immunologic synapses, Proc Natl Acad Sci USA 99 (2002), 11351-11356.
152. T. Morio, K. Takase, H. Okawa, M. Oguchi, M. Kanbara, F. Hiruma, K. Yoshino, T. Kaneko, S. Asamura and T. Inoue, The increase of nonMHCrestricted cytotoxic cells (gamma/deltaTCRbearing T cells or NK cells) and the abnormal differentiation of B cells in WiskottAldrich syndrome, Clin Immunol Immunopathol 52 (1989), 279-290.
153. A. Gismondi, L. Cifaldi, C. Mazza, S. Giliani, S. Parolini, S. Morrone, J. Jacobelli, E. Bandiera, L. Notarangelo and A. Santoni, Impaired natural and CD16mediatedNK cell cytotoxicity in patients with WAS and XLT: ability of IL2 to correct NK cell functional defect, Blood 104 (2004), 436-443.
154. W. Huang, H.D. Ochs, B. Dupont and Y.M. Vyas, The WiskottAldrich syndrome protein regulates nuclear translocation ofNFAT2 andNFkappa B (RelA) independently of its role in filamentous actin polymerization and actin cytoskeletal rearrangement, J Immunol 174 (2005), 2602-2611.
155. H. Stabile, C. Carlino, C.Mazza, S.Giliani, S.Morrone, L.D. Notarangelo, A. Santoni and A. Gismondi, Impaired NKcell migration in WAS/XLT patients: role of Cdc42/WASp pathway in the control of chemokineinduced beta2 integrin highaffinity state, Blood 115 (2010), 2818-2826.
156. J.A. Berzofsky and M. Terabe, The contrasting roles of NKT cells in tumor immunity, Curr Mol Med 9 (2009), 667-672.
157. M. Locci, E. Draghici, F. Marangoni, M. Bosticardo, M. Catucci, A. Aiuti, C. Cancrini, L. Marodi, T. Espanol, R.G. Bredius, A.J. Thrasher, A. Schulz, J. Litzman, M.G. Roncarolo, G. Casorati, P. Dellabona and A. Villa, The WiskottAldrich syndrome protein is required for iNKT cell maturation and function, J Exp Med 206 (2009), 735-742.
158. A.Astrakhan, H.D.Ochs and D.J.Rawlings, Wiskott Aldrich syndrome protein is required for homeostasis and function of invariant NKT cells, J Immunol 182 (2009), 7370-7380.
159. R. Badolato, S. Sozzani, F.Malacarne, S. Bresciani, M. Fiorini, A. Borsatti, A. Albertini, A. Mantovani, A.G. Ugazio and L.D. Notarangelo, Monocytes fromWiskottAldrich Patients Display Reduced Chemotaxis and Lack of Cell Polarization in Response to Monocyte Chemoattractant Protein1 and FormylMethionylLeucylPhenylalanine, The Journal of Immunology 161 (1998), 1026-1033.
160. D. Zicha, W.E. Allen, P.M. Brickell, C. Kinnon, G.A. Dunn, G.E. Jones and A.J. Thrasher, Chemotaxis of macrophages is abolished in the WiskottAldrich syndrome, Br J Haematol 101 (1998), 659-665.
161. M. Binks, G.E. Jones, P.M. Brickell, C. Kinnon, D.R. Katz and A.J. Thrasher, Intrinsic dendritic cell abnormalities in WiskottAldrich syndrome, Eur J Immunol 28 (1998), 3259-3267.
162. G. Bouma, S. Burns and A.J. Thrasher, Impaired T cell priming in vivo resulting from dysfunction of WASpdeficient dendritic cells, Blood 110 (2007), 4278-4284.
163. H. Zhang, U.Y. Schaff, C.E. Green, H. Chen, M.R. Sarantos, Y. Hu, D. Wara, S.I. Simon and C.A. Lowell, Impaired integrindependent function in WiskottAldrich syndrome proteindeficient murine and human neutrophils, Immunity 25 (2006), 285-295.
164. J. Pulecio, E. Tagliani, A. Scholer, F. Prete, L. Fetler, O.R. Burrone and F. Benvenuti, Expression of WiskottAldrich syndrome protein in dendritic cells regulates synapse formation and activation of naive CD8+ T cells, J Immunol 181 (2008), 1135-1142.
165. J.M. Delaisse, M.T. Engsig, V. Everts, M. del Carmen Ovejero, M. Ferreras, L. Lund, T.H. Vu, Z.Werb, B.Winding, A. Lochter, M.A. Karsdal, T. Troen, T. Kirkegaard, T. Lenhard, A.M.Heegaard, L.Neff, R. Baron andN.T. Foged, Proteinases in bone resorption: obvious and less obvious roles, Clin Chim Acta 291 (2000), 223-234.
166. G. Burgstaller and M. Gimona, Podosomemediated matrix resorption and cell motility in vascular smooth muscle cells, Am J Physiol Heart Circ Physiol 288 (2005), H3001-3005.
167. P.C. Marchisio, D. Cirillo, L. Naldini, M.V. Primavera, A. Teti and A. ZamboninZallone, Cellsubstratum interaction of cultured avian osteoclasts is mediated by specific adhesion structures, J Cell Biol 99 (1984), 1696-1705.
168. A. Olivier, L. JeansonLeh, G. Bouma, D. Compagno, J. Blondeau, K. Seye, S. Charrier, S. Burns, A.J. Thrasher, O. Danos, W. Vainchenker and A. Galy, A partial downregulation of WASP is sufficient to inhibit podosome formation in dendritic cells, Mol Ther 13 (2006), 729-737.
169. S. Linder, D. Nelson, M. Weiss and M. Aepfelbacher, WiskottAldrich syndrome protein regulates podosomes in primary human macrophages, Proc Natl Acad Sci USA 96 (1999), 9648-9653.
170. S.Burns, A.J. Thrasher,M.P.Blundell, L.Machesky andG.E. Jones, Configuration of human dendritic cell cytoskeleton by Rho GTPases, the WAS protein, and differentiation, Blood 98 (2001), 1142-1149.
171. Y. Calle, G.E. Jones, C. Jagger, K. Fuller, M.P. Blundell, J. Chow, T. Chambers and A.J. Thrasher, WASp deficiency in mice results in failure to form osteoclast sealing zones and defects in bone resorption, Blood 103 (2004), 3552-3561.
172. S. Burns, S.J. Hardy, J. Buddle, K.L. Yong, G.E. Jones and A.J. Thrasher,Maturation ofDCis associatedwith changes in motile characteristics and adherence, CellMotil.Cytoskeleton 57 (2004), 118-132.
173. S. Tsuboi, H. Takada, T. Hara, N. Mochizuki, T. Funyu, H. Saitoh, Y. Terayama, K. Yamaya, C. Ohyama, S. Nonoyama and H.D. Ochs, FBP17 Mediates a Common Molecular Step in the Formation of Podosomes and Phagocytic Cups in Macrophages, J Biol Chem 284 (2009), 8548-8556.
174. Y. Calle, N.O. Carragher, A.J. Thrasher and G.E. Jones, Inhibition of calpain stabilises podosomes and impairs dendritic cell motility, J Cell Sci 119 (2006), 2375-2385.
175. A. Dovas, J.C. Gevrey, A. Grossi, H. Park, W. AbouKheir and D. Cox, Regulation of podosome dynamics by WASp phosphorylation: implication in matrix degradation and chemotaxis inmacrophages, JCell Sci 122 (2009), 3873-3882.
176. W.E. Allen, G.E. Jones, J.W. Pollard and A.J. Ridley, Rho, Rac and Cdc42 regulate actin organization and cell adhesion in macrophages, J Cell Sci 110(Pt 6) (1997), 707-720.
177. W.E. Allen, D. Zicha, A.J. Ridley and G.E. Jones, A role for Cdc42 in macrophage chemotaxis, J Cell Biol 141 (1998), 1147-1157.
178. D. Yarar, W. To, A. Abo and M.D. Welch, The WiskottAldrich syndrome protein directs actinbased motility by stimulating actin nucleation with the Arp2/3 complex, Curr Biol 9 (1999), 555-558.
179. G.E. Jones,D. Zicha, G.A.Dunn,M. Blundell andA. Thrasher, Restoration of podosomes and chemotaxis in WiskottAldrich syndrome macrophages following induced expression of WASp, Int J Biochem Cell Biol 34 (2002), 806-815.
180. S. Charrier, D. Stockholm, K. Seye, P. Opolon, M. Taveau, D.A. Gross, S. BucherLaurent, C. Delenda,W. Vainchenker, O. Danos and A. Galy, A lentiviral vector encoding the humanWiskottAldrich syndrome protein corrects immune and cytoskeletal defects in WASP knockout mice, Gene Ther 12 (2005), 597-606.
181. M.P. Blundell, G. Bouma, Y. Calle, G.E. Jones, C. Kinnon and A.J. Thrasher, Improvement of migratory defects in a murine model of WiskottAldrich syndrome gene therapy, Mol Ther 16 (2008), 836-844.
182. R. Lorenzi, P.M. Brickell, D.R. Katz, C. Kinnon and A.J. Thrasher, WiskottAldrich syndrome protein is necessary for efficient IgGmediated phagocytosis, Blood 95 (2000), 2943-2946.
183. Y. Leverrier, R. Lorenzi, M.P. Blundell, P. Brickell, C. Kinnon, A.J. Ridley and A.J. Thrasher, Cutting edge: the WiskottAldrich syndrome protein is required for efficient phagocytosis of apoptotic cells, The Journal of Immunology 166 (2001), 4831-4834.
184. E. Haddad, E. Cramer, C. Riviere, P. Rameau, F. Louache, J. Guichard, D.L. Nelson, A. Fischer, W. Vainchenker and N. Debili, The thrombocytopenia of Wiskott Aldrich syndrome is not related to a defect in proplatelet formation, Blood 94 (1999), 509-518.
185. B.M. Marathe, A. Prislovsky, A. Astrakhan, D.J. Rawlings, J.Y. Wan and T.S. Strom, Antiplatelet antibodies in WASP() mice correlate with evidence of increased in vivo platelet consumption, Exp Hematol 37 (2009), 1353-1363.
186. S. Sabri, A. Foudi, S. Boukour, B. Franc, S. Charrier, M. JandrotPerrus, R.W. Farndale, A. Jalil, M.P. Blundell, E.M. Cramer, F. Louache, N. Debili, A.J. Thrasher and W. Vainchenker, Deficiency in the WiskottAldrich protein induces premature proplatelet formation and platelet production in the bone marrow compartment, Blood 108 (2006), 134-140.
187. S.H. Schurman and F. Candotti, Autoimmunity in WiskottAldrich syndrome, Curr Opin Rheumatol 15 (2003), 446-453.
188. H. Ozsahin, M. CavazzanaCalvo, L.D. Notarangelo, A. Schulz, A.J. Thrasher, E. Mazzolari, M.A. Slatter, F. Le Deist, S. Blanche, P. Veys, A. Fasth, R. Bredius, P. Sedlacek, N. Wulffraat, J. Ortega, C. Heilmann, A. OMeara, J. Wachowiak, K. Kalwak, S. MatthesMartin, T. Gungor, A. Ikinciogullari, P. Landais, A.J. Cant, W. Friedrich and A. Fischer, Longterm outcome following hematopoietic stemcell transplantation in WiskottAldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation, Blood 111 (2008), 439-445.
189. S. DupuisGirod, J. Medioni, E. Haddad, P. Quartier, M. CavazzanaCalvo, F. Le Deist, B.G. de Saint, J. Delaunay, K. Schwarz, J.L. Casanova, S. Blanche and A. Fischer, Autoimmunity in WiskottAldrich syndrome: risk factors, clinical features, and outcome in a singlecenter cohort of 55 patients, Pediatrics 111 (2003), e622-e627.
190. D.D. Nguyen, M.H. Maillard, V. CottadeAlmeida, E. Mizoguchi, C. Klein, I. Fuss, C. Nagler, A. Mizoguchi, A.K. Bhan and S.B. Snapper, Lymphocytedependent and Th2 cytokineassociated colitis in mice deficient in WiskottAldrich syndrome protein, Gastroenterology 133 (2007), 1188-1197.
191. R.M. Siegel, F.K. Chan, H.J. Chun and M.J. Lenardo, The multifaceted role of Fas signaling in immune cell homeostasis and autoimmunity, Nat Immunol 1 (2000), 469-474.
192. N.P. Nikolov, M. Shimizu, S. Cleland, D. Bailey, J. Aoki, T. Strom, P.L. Schwartzberg, F. Candotti and R.M. Siegel, Systemic autoimmunity and defective Fas ligand secretion in the absence of the WiskottAldrich syndrome protein, Blood (2010), published online May 10.
193. P.R. Taylor, A. Carugati, V.A. Fadok, H.T. Cook, M. Andrews, M.C. Carroll, J.S. Savill, P.M. Henson, M. Botto and M.J.Walport, A hierarchical role for classical pathway complement proteins in the clearance of apoptotic cells in vivo, J Exp Med 192 (2000), 359-366.
194. C.C. Goodnow, Multistep pathogenesis of autoimmune disease, Cell 130 (2007), 25-35.
195. C. Schuetz, T. Niehues, W. Friedrich and K. Schwarz, Autoimmunity, autoinflammation and lymphoma in combined immunodeficiency (CID), Autoimmun Rev 9 (2010), 477-482.
196. R. Parkman, Treatment of immunodeficiency diseases by organ transplantation, Prog Clin Immunol 3 (1977), 85-102.
197. I.J. Rimm and J.M. Rappeport, Bone marrow transplantation for theWiskottAldrich syndrome. Longtermfollowup, Transplantation 50 (1990), 617-620.
198. J.A. Brochstein, A.P. Gillio, M. Ruggiero, N.A. Kernan, D. Emanuel, J. Laver, T. Small and R.J. OReilly, Marrow transplantation from human leukocyte antigenidentical or haploidentical donors for correction of WiskottAldrich syndrome, J Pediatr 119 (1991), 907-912.
199. M.E. Conley, D. Saragoussi, L. Notarangelo, A. Etzioni and J.L. Casanova, An international study examining therapeutic options used in treatment of WiskottAldrich syndrome, Clin.Immunol. 109 (2003), 272-277.
200. P. Satwani, E.Morris,M.B. Bradley,M. Bhatia, C. van deVen andM.S. Cairo, Reduced intensity and nonmyeloablative allogeneic stemcell transplantation in children and adolescents with malignant and nonmalignant diseases, Pediatr Blood Cancer 50 (2008), 1-8. (Pubitemid 350234257)
201. W. Qasim, M. CavazzanaCalvo, E.G. Davies, J. Davis, M. Duval, G. Eames, N. Farinha, A. Filopovich, A. Fischer, W. Friedrich, A. Gennery, C. Heilmann, P. Landais, M. Horwitz, F. Porta, P. Sedlacek, R. Seger, M. Slatter, L. Teague, M. Eapen and P. Veys, Allogeneic hematopoietic stemcell transplantation for leukocyte adhesion deficiency, Pediatrics 123 (2009), 836-840.
202. F. Candotti, F. Facchetti, L. Blanzuoli, D.M. Stewart, D.L. Nelson and R.M. Blaese, Retrovirusmediated WASP gene transfer corrects defective actin polymerization in B cell lines fromWiskottAldrich syndrome patients carrying null mutations, Gene Ther 6 (1999), 1170-1174.
203. T. Wada, G.J. Jagadeesh, D.L. Nelson and F. Candotti, Retrovirusmediated WASP gene transfer corrects Wiskott Aldrich syndrome Tcell dysfunction, Hum Gene Ther 13 (2002), 1039-1046.
204. T.S. Strom, W. Gabbard, P.F. Kelly, J.M. Cunningham and A.W. Nienhuis, Functional correction of T cells derived from patients with theWiskottAldrich syndrome (WAS) by transduction with an oncoretroviral vector encoding theWAS protein, Gene Ther 10 (2003), 803-809.
205. L. Dupre, S. Trifari, A. Follenzi, F. Marangoni, d.L. Lain, A. Bernad, S.Martino, S. Tsuchiya, C. Bordignon, L. Naldini, A. Aiuti and M.G. Roncarolo, Lentiviral vectormediated gene transfer in T cells from WiskottAldrich syndrome patients leads to functional correction, Mol Ther 10 (2004), 903-915.
206. T.S. Strom, S.J. Turner, S. Andreansky, H. Liu, P.C. Doherty, D.K. Srivastava, J.M. Cunningham and A.W. Nienhuis, Defects in Tcellmediated immunity to influenza virus in murine WiskottAldrich syndrome are corrected by oncoretroviral vectormediated gene transfer into repopulating hematopoietic cells, Blood 102 (2003), 3108-3116.
207. L. Dupre, F. Marangoni, S. Scaramuzza, S. Trifari, R.J. Hernandez, A. Aiuti, L. Naldini and M.G. Roncarolo, Efficacy of gene therapy for WiskottAldrich syndrome using a WAS promoter/cDNAcontaining lentiviral vector and nonlethal irradiation, Hum Gene Ther 17 (2006), 303-313.
208. F. Marangoni, M. Bosticardo, S. Charrier, E. Draghici, M. Locci, S. Scaramuzza, C. Panaroni, M. Ponzoni, F. Sanvito, C. Doglioni, M. Liabeuf, B. Gjata, M. Montus, K. Siminovitch, A. Aiuti, L. Naldini, L. Dupre, M.G. Roncarolo, A. Galy and A. Villa, Evidence for longterm efficacy and safety of gene therapy for WiskottAldrich syndrome in preclinical models, Mol Ther 17 (2009), 1073-1082.
209. S. Charrier, L. Dupre, S. Scaramuzza, L. JeansonLeh, M.P. Blundell, O. Danos, F. Cattaneo, A. Aiuti, R. Eckenberg, A.J. Thrasher, M.G. Roncarolo and A. Galy, Lentiviral vectors targetingWASp expression to hematopoietic cells, efficiently transduce and correct cells from WAS patients, Gene Ther 14 (2007), 415-428.
210. C. Frecha,M.G. Toscano, C.Costa,M.J. SaezLara, F.L.Cosset, E. Verhoeyen and F. Martin, Improved lentiviral vectors for WiskottAldrich syndrome gene therapy mimic endogenous expression profiles throughout haematopoiesis, Gene Ther 15 (2008), 930-941.
211. F. Martin, M.G. Toscano, M. Blundell, C. Frecha, G.K. Srivastava, M. Santamaria, A.J. Thrasher and I.J. Molina, Lentiviral vectors transcriptionally targeted to hematopoietic cells by WASP gene proximal promoter sequences, Gene Ther 12 (2005), 715-723.
212. M.A. Chellaiah, D. Kuppuswamy, L. Lasky and S. Linder, Phosphorylation of aWiscottAldrich syndrome proteinassociated signal complex is critical in osteoclast bone resorption, J Biol Chem 282 (2007), 10104-10116.
213. S.C. Bunnell, P.A. Henry, R. Kolluri, T. Kirchhausen, R.J. Rickles and L.J. Berg, Identification of Itk/Tsk Src homology 3 domain ligands, J Biol Chem 271 (1996), 25646-25656.
214. N. MartinezQuiles,H.Y. Ho, M.W. Kirschner, N. Ramesh and R.S. Geha, Erk/Src phosphorylation of cortactin acts as a switch onswitch off mechanism that controls its ability to activate NWASP, Mol Cell Biol 24 (2004), 5269-5280.