-
1
-
-
0027937223
-
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
-
Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 1994; 78:635-644.
-
(1994)
Cell
, vol.78
, pp. 635-644
-
-
Derry, J.M.1
Ochs, H.D.2
Francke, U.3
-
2
-
-
0028937177
-
X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene
-
Villa A, Notarangelo L, Macchi P, et al. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet 1995; 9:414-417.
-
(1995)
Nat Genet
, vol.9
, pp. 414-417
-
-
Villa, A.1
Notarangelo, L.2
Macchi, P.3
-
3
-
-
0028786330
-
The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene
-
Zhu Q, Zhang M, Blaese RM, et al. The Wiskott-Aldrich syndrome and X-linked congenital thrombocytopenia are caused by mutations of the same gene. Blood 1995; 86:3797-3804.
-
(1995)
Blood
, vol.86
, pp. 3797-3804
-
-
Zhu, Q.1
Zhang, M.2
Blaese, R.M.3
-
4
-
-
0037085797
-
Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia
-
Notarangelo LD, Mazza C, Giliani S, et al. Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. Blood 2002; 99:2268-2269.
-
(2002)
Blood
, vol.99
, pp. 2268-2269
-
-
Notarangelo, L.D.1
Mazza, C.2
Giliani, S.3
-
5
-
-
0035093787
-
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
-
Devriendt K, Kim AS, Mathijs G, et al. Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet 2001; 27:313-317.
-
(2001)
Nat Genet
, vol.27
, pp. 313-317
-
-
Devriendt, K.1
Kim, A.S.2
Mathijs, G.3
-
6
-
-
0032585538
-
Scar1 and the related Wiskott-Aldrich syndrome protein, WASP, regulate the actin cytoskeleton through the Arp2/3 complex
-
Machesky L, Insall R. Scar1 and the related Wiskott-Aldrich syndrome protein, WASP, regulate the actin cytoskeleton through the Arp2/3 complex. Curr Biol 1998; 8:1347-1356.
-
(1998)
Curr Biol
, vol.8
, pp. 1347-1356
-
-
Machesky, L.1
Insall, R.2
-
7
-
-
4544288186
-
Other well-defined immunodeficiency syndromes
-
Stiehm ER, Ochs HD, Winkelstein JA, editors. Philadelphia: Elsevier Saunders
-
Ochs HD, Nelson DL, Stiehm ER. Other well-defined immunodeficiency syndromes. In: Stiehm ER, Ochs HD, Winkelstein JA, editors. Immunologic disorders in infants and children. 5th ed. Philadelphia: Elsevier Saunders; 2004. pp. 505-579.
-
(2004)
Immunologic Disorders in Infants and Children. 5th Ed.
, pp. 505-579
-
-
Ochs, H.D.1
Nelson, D.L.2
Stiehm, E.R.3
-
8
-
-
0000788042
-
Familiärer, angeborener Morbus Werlhofii?
-
Wiskott A. Familiärer, angeborener Morbus Werlhofii? Monatsschr Kinderheilkd 1937; 68:212-216.
-
(1937)
Monatsschr Kinderheilkd
, vol.68
, pp. 212-216
-
-
Wiskott, A.1
-
9
-
-
0028850286
-
High prevalence of non-sense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome
-
Wengler GS, Notarangelo LD, Berardelli S, et al. High prevalence of non-sense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome. Blood 1995; 86:3648-3654.
-
(1995)
Blood
, vol.86
, pp. 3648-3654
-
-
Wengler, G.S.1
Notarangelo, L.D.2
Berardelli, S.3
-
10
-
-
0030804315
-
Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype
-
Zhu Q, Watanabe C, Liu T, et al. Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype. Blood 1997; 90:2680-2689.
-
(1997)
Blood
, vol.90
, pp. 2680-2689
-
-
Zhu, Q.1
Watanabe, C.2
Liu, T.3
-
11
-
-
0031134088
-
Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients
-
Remold-O'Donnell E, Cooley J, Shcherbina A, et al. Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients. J Immunol 1997; 158:4021-4025.
-
(1997)
J Immunol
, vol.158
, pp. 4021-4025
-
-
Remold-O'Donnell, E.1
Cooley, J.2
Shcherbina, A.3
-
12
-
-
0033035452
-
Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes
-
Lemahieu V, Gastier JM, Francke U. Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes. Hum Mutat 1999; 14:54-66.
-
(1999)
Hum Mutat
, vol.14
, pp. 54-66
-
-
Lemahieu, V.1
Gastier, J.M.2
Francke, U.3
-
14
-
-
0029999252
-
Wiskott-Aldrich syndrome: No strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product
-
Schindelhauer D, Weiss M, Hellebrand H, et al. Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product. Hum Genet 1996; 98:68-76.
-
(1996)
Hum Genet
, vol.98
, pp. 68-76
-
-
Schindelhauer, D.1
Weiss, M.2
Hellebrand, H.3
-
15
-
-
0029998118
-
Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome
-
Greer WL, Shehabeldin A, Schulman J, et al. Identification of WASP mutations, mutation hotspots and genotype-phenotype disparities in 24 patients with the Wiskott-Aldrich syndrome. Hum Genet 1996; 98:685-690.
-
(1996)
Hum Genet
, vol.98
, pp. 685-690
-
-
Greer, W.L.1
Shehabeldin, A.2
Schulman, J.3
-
16
-
-
9144241005
-
Clinical course of patients with WASP gene mutations
-
Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood 2004; 103:456-464. This report details the clinical phenotype of each of 50 patients monitored in a single center in Japan. Complete lack of WASP expression was associated with susceptibility to bacterial, viral, fungal, and Pneumocystis carinii infections and with severe eczema, intestinal hemorrhage, death resulting from intracranial bleeding, and malignancies. The rates for survival were significantly lower in WASP-negative patients, providing evidence for a strong phenotype-genotype correlation and demonstrating that WASP expression is a useful tool for predicting long-term prognosis.
-
(2004)
Blood
, vol.103
, pp. 456-464
-
-
Imai, K.1
Morio, T.2
Zhu, Y.3
-
17
-
-
10244243692
-
Mutations of the Wiskott-Aldrich syndrome protein (WASP): Hotspots, effect on transcription, and translation and phenotype/genotype correlation
-
Jin Y, Mazza C, Christie JR, et al. Mutations of the Wiskott-Aldrich syndrome protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood 2004; 104:4010-4019. This paper describes 141 unique mutations in 261 affected members from 227 WAS/XLT families and analyzes the effect of these mutations on transcription, RNA splicing, and protein expression. The authors identified five mutational hotspots within the WASP gene and were able to establish a strong association between genotype and phenotype.
-
(2004)
Blood
, vol.104
, pp. 4010-4019
-
-
Jin, Y.1
Mazza, C.2
Christie, J.R.3
-
18
-
-
0037736679
-
Autoimmunity in Wiskott-Aldrich syndrome: Risk factors, clinical features, and outcome in a single-center cohort of 55 patients
-
Dupuis-Girod S, Medioni J, Haddad E, et al. Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients. Pediatrics 2003; 111:e622-e627.
-
(2003)
Pediatrics
, vol.111
-
-
Dupuis-Girod, S.1
Medioni, J.2
Haddad, E.3
-
19
-
-
0027444915
-
T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses
-
Molina IJ, Sancho J, Terhorst C, et al. T cells of patients with the Wiskott-Aldrich syndrome have a restricted defect in proliferative responses. J Immunol 1993; 151:4383-4390.
-
(1993)
J Immunol
, vol.151
, pp. 4383-4390
-
-
Molina, I.J.1
Sancho, J.2
Terhorst, C.3
-
20
-
-
0030816363
-
Defective actin reorganization and polymerization of Wiskott-Aldrich T cells in response to CD3-mediated stimulation
-
Gallego M, Santamaria M, Pena J, Molina I. Defective actin reorganization and polymerization of Wiskott-Aldrich T cells in response to CD3-mediated stimulation. Blood 1997; 90:3089-3097.
-
(1997)
Blood
, vol.90
, pp. 3089-3097
-
-
Gallego, M.1
Santamaria, M.2
Pena, J.3
Molina, I.4
-
21
-
-
0032118427
-
Wiskott-Aldrich syndrome protein-deficient mice reveal a role for WASP in T but not B cell activation
-
Snapper SB, Rosen FS, Mizoguchi E, et al. Wiskott-Aldrich syndrome protein-deficient mice reveal a role for WASP in T but not B cell activation. Immunity 1998; 9:81-91.
-
(1998)
Immunity
, vol.9
, pp. 81-91
-
-
Snapper, S.B.1
Rosen, F.S.2
Mizoguchi, E.3
-
22
-
-
0031802501
-
Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome
-
Facchetti F, Blanzuoli L, Vermi W, et al. Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome. J Pathol 1998; 185:99-107.
-
(1998)
J Pathol
, vol.185
, pp. 99-107
-
-
Facchetti, F.1
Blanzuoli, L.2
Vermi, W.3
-
23
-
-
12844254921
-
Wiskott-Aldrich syndrome protein deficiency leads to reduced B-cell adhesion, migration, and homing, and a delayed humoral immune response
-
Westerberg L, Larsson M, Hardy SJ, et al. Wiskott-Aldrich syndrome protein deficiency leads to reduced B-cell adhesion, migration, and homing, and a delayed humoral immune response. Blood 2005; 105:1144-1152. This paper focuses on the effect of WASP mutations on B cells. B cells from WAS patients exhibited decreased motility and reduced capacity to migrate, to adhere homotypically, and to form long cytoplasmic protrusions after in-vitro culture. A similar defect of B cells was observed in WASP deficiency mice that in addition were found to have a reduced and delayed antibody response to both T cell-dependent and -independent antigens. The authors conclude that WASP is crucial for optimal B cell responses and may play a pivotal role in the primary humoral immune response.
-
(2005)
Blood
, vol.105
, pp. 1144-1152
-
-
Westerberg, L.1
Larsson, M.2
Hardy, S.J.3
-
24
-
-
0037143734
-
Wiskott-Aldrich syndrome protein is required for NK cell cytotoxicity and colocalizes with actin to NK cell-activating immunologic synapses
-
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 immunologic synapses. Proc Natl Acad Sci USA 2002; 99:11351-11356.
-
(2002)
Proc Natl Acad Sci USA
, vol.99
, pp. 11351-11356
-
-
Orange, J.S.1
Ramesh, N.2
Remold-O'Donnell, E.3
-
25
-
-
3142585003
-
Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: Ability of IL-2 to correct NK cell functional defect
-
Gismondi A, Cifaldi L, Mazza C, et al. Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: ability of IL-2 to correct NK cell functional defect. Blood 2004; 104:436-443. This report demonstrates that although the percentage of NK cells is normal, natural and NK cell cytotoxicity is significantly inhibited in all patients with WAS and in most with XLT. This deficiency is associated with a reduced ability of WAS and XLT NK cells to form conjugates with susceptible target cells and to accumulate F-actin on binding. Treatment with interleukin-2 corrected both functional defects.
-
(2004)
Blood
, vol.104
, pp. 436-443
-
-
Gismondi, A.1
Cifaldi, L.2
Mazza, C.3
-
26
-
-
14044276352
-
The Wiskott-Aldrich syndrome protein regulates nuclear translocation of NFAT2 and NF-kappaB (RelA) independently of its role in filamentous actin polymerization and actin cytoskeletal rearrangement
-
Huang W, Ochs HD, Dupont B, Vyas YM. The Wiskott-Aldrich syndrome protein regulates nuclear translocation of NFAT2 and NF-kappaB (RelA) independently of its role in filamentous actin polymerization and actin cytoskeletal rearrangement. J Immunol 2005; 174:2602-2611. The authors demonstrate that WASP is an important component for integration of signals leading to nuclear translocation of NFAT2 and NF-κB during cell-cell contact. This function is independent of the role of WASP in F-actin polymerization and cytoskeletal rearrangement. The absence of WASP results in decreased accumulation of calcineurin, WASP-interacting protein, activated ZAP 70, and phospholipase C-γ1 within the disorganized NK cell immune synapse.
-
(2005)
J Immunol
, vol.174
, pp. 2602-2611
-
-
Huang, W.1
Ochs, H.D.2
Dupont, B.3
Vyas, Y.M.4
-
27
-
-
8444246689
-
Involvement of the Wiskott-Aldrich syndrome protein and other actin regulatory adaptors in T cell activation
-
Badour K, Zhang J, Siminovitch KA. Involvement of the Wiskott-Aldrich syndrome protein and other actin regulatory adaptors in T cell activation. Semin Immunol 2004; 16:395-407.
-
(2004)
Semin Immunol
, vol.16
, pp. 395-407
-
-
Badour, K.1
Zhang, J.2
Siminovitch, K.A.3
-
28
-
-
0141629510
-
Wiskott-Aldrich Syndrome: A model for defective actin reorganization, cell trafficking and synapse formation
-
Notarangelo LD, Ochs HD. Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation. Curr Opin Immunol 2003; 15:585-591.
-
(2003)
Curr Opin Immunol
, vol.15
, pp. 585-591
-
-
Notarangelo, L.D.1
Ochs, H.D.2
-
29
-
-
0037112347
-
Structure of the N-WASP EVH1 domain-WIP complex: Insight into the molecular basis of Wiskott-Aldrich Syndrome
-
Volkman BF, Prehoda KE, Scott JA, et al. Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome. Cell 2002; 111:565-576.
-
(2002)
Cell
, vol.111
, pp. 565-576
-
-
Volkman, B.F.1
Prehoda, K.E.2
Scott, J.A.3
-
30
-
-
0034683746
-
Mechanism of N-WASP activation by CDC42 and phosphatidylinositol 4, 5-bisphosphate
-
Rohatgi R, Ho HY, Kirschner MW. Mechanism of N-WASP activation by CDC42 and phosphatidylinositol 4, 5-bisphosphate. J Cell Biol 2000; 150:1299-1310.
-
(2000)
J Cell Biol
, vol.150
, pp. 1299-1310
-
-
Rohatgi, R.1
Ho, H.Y.2
Kirschner, M.W.3
-
31
-
-
0041989754
-
A conserved amphipathic helix in WASP/Scar proteins is essential for activation of Arp2/3 complex
-
Panchal SC, Kaiser DA, Torres E, et al. A conserved amphipathic helix in WASP/Scar proteins is essential for activation of Arp2/3 complex. Nat Struct Biol 2003; 10:591-598.
-
(2003)
Nat Struct Biol
, vol.10
, pp. 591-598
-
-
Panchal, S.C.1
Kaiser, D.A.2
Torres, E.3
-
32
-
-
0034624753
-
Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein
-
Kim AS, Kakalis LT, Abdul-Manan N, et al. Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein. Nature 2000; 404:151-158.
-
(2000)
Nature
, vol.404
, pp. 151-158
-
-
Kim, A.S.1
Kakalis, L.T.2
Abdul-Manan, N.3
-
33
-
-
1842505060
-
A two-state allosteric model for autoinhibition rationalizes WASP signal integration and targeting
-
Buck M, Xu W, Rosen MK. A two-state allosteric model for autoinhibition rationalizes WASP signal integration and targeting. J Mol Biol 2004; 338:271-285.
-
(2004)
J Mol Biol
, vol.338
, pp. 271-285
-
-
Buck, M.1
Xu, W.2
Rosen, M.K.3
-
34
-
-
9444221962
-
Mechanisms of WASp-mediated hematologic and immunologic disease
-
Burns S, Cory GO, Vainchenker W, Thrasher AJ. Mechanisms of WASp-mediated hematologic and immunologic disease. Blood 2004; 104:3454-3462. This is a comprehensive review of WASP function in health and disease, with a particular focus on the mechanisms by which defects in the WASP gene cause hematologic and immunologic disease.
-
(2004)
Blood
, vol.104
, pp. 3454-3462
-
-
Burns, S.1
Cory, G.O.2
Vainchenker, W.3
Thrasher, A.J.4
-
35
-
-
0347915637
-
Fyn and PTP-PEST-mediated regulation of Wiskott-Aldrich syndrome protein (WASp) tyrosine phosphorylation is required for coupling T cell antigen receptor engagement to WASp effector function and T cell activation
-
Badour K, Zhang J, Shi F, et al. Fyn and PTP-PEST-mediated regulation of Wiskott-Aldrich 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 2004; 199:99-112. This article illustrates the regulation of WASP phosphorylation and function after TCR engagement.
-
(2004)
J Exp Med
, vol.199
, pp. 99-112
-
-
Badour, K.1
Zhang, J.2
Shi, F.3
-
36
-
-
0037241232
-
The Wiskott-Aldrich syndrome protein acts downstream of CD2 and the CD2AP and PSTPIP1 adaptors to promote formation of the immunological synapse
-
Badour K, Zhang J, Shi F, et al. The Wiskott-Aldrich syndrome protein acts downstream of CD2 and the CD2AP and PSTPIP1 adaptors to promote formation of the immunological synapse. Immunity 2003; 18:141-154.
-
(2003)
Immunity
, vol.18
, pp. 141-154
-
-
Badour, K.1
Zhang, J.2
Shi, F.3
-
37
-
-
0035146636
-
Interaction of WASP/Scar proteins with actin and vertebrate Arp2/3 complex
-
Marchand JB, Kaiser DA, Pollard TD, Higgs HN. Interaction of WASP/Scar proteins with actin and vertebrate Arp2/3 complex. Nat Cell Biol 2001; 3:76-82.
-
(2001)
Nat Cell Biol
, vol.3
, pp. 76-82
-
-
Marchand, J.B.1
Kaiser, D.A.2
Pollard, T.D.3
Higgs, H.N.4
-
38
-
-
11144226715
-
ARPC1/Arc40 mediates the interaction of the actin-related protein 2 and 3 complex with Wiskott-Aldrich syndrome protein family activators
-
Pan F, Egile C, Lipkin T, Li R. ARPC1/Arc40 mediates the interaction of the actin-related protein 2 and 3 complex with Wiskott-Aldrich syndrome protein family activators. J Biol Chem 2004; 279:54629-54636.
-
(2004)
J Biol Chem
, vol.279
, pp. 54629-54636
-
-
Pan, F.1
Egile, C.2
Lipkin, T.3
Li, R.4
-
39
-
-
0036669692
-
Wiskott-Aldrich syndrome protein regulates lipid raft dynamics during immunological synapse formation
-
Dupre L, Aiuti A, Trifari S, et al. Wiskott-Aldrich syndrome protein regulates lipid raft dynamics during immunological synapse formation. Immunity 2002; 17:157-166.
-
(2002)
Immunity
, vol.17
, pp. 157-166
-
-
Dupre, L.1
Aiuti, A.2
Trifari, S.3
-
40
-
-
12344272845
-
Dynamic molecular interactions linking the T cell antigen receptor to the actin cytoskeleton
-
Barda-Saad M, Braiman A, Titerence R, et al. Dynamic molecular interactions linking the T cell antigen receptor to the actin cytoskeleton. Nat Immunol 2005; 6:80-89. This important paper describes the mechanisms by which WASP is recruited to the TCR and then migrates to the peripheral immunologic synapse during T cell activation, and the interplay that takes place between WASP, Nck, and other molecules involved in T cell activation (ZAP-70, LAT, SLP-76).
-
(2005)
Nat Immunol
, vol.6
, pp. 80-89
-
-
Barda-Saad, M.1
Braiman, A.2
Titerence, R.3
-
41
-
-
0041845112
-
SLP-76 coordinates Nck-dependent Wiskott-Aldrich syndrome protein recruitment with Vav-1/Cdc42-dependent Wiskott-Aldrich syndrome protein activation at the T cell-APC contact site
-
Zeng R, Cannon JL, Abraham RT, et al. SLP-76 coordinates Nck-dependent Wiskott-Aldrich syndrome protein recruitment with Vav-1/Cdc42-dependent Wiskott-Aldrich syndrome protein activation at the T cell-APC contact site. J Immunol 2003; 171:1360-1368.
-
(2003)
J Immunol
, vol.171
, pp. 1360-1368
-
-
Zeng, R.1
Cannon, J.L.2
Abraham, R.T.3
-
42
-
-
4444310711
-
Lymphocyte microvilli are dynamic, actin-dependent structures that do not require Wiskott-Aldrich syndrome protein (WASp) for their morphology
-
Majstoravich S, Zhang J, Nicholson-Dykstra S, et al. Lymphocyte microvilli are dynamic, actin-dependent structures that do not require Wiskott-Aldrich syndrome protein (WASp) for their morphology. Blood 2004; 104:1396-1403. This paper demonstrates that WASP is not required for lymphocyte microvilli formation and organization.
-
(2004)
Blood
, vol.104
, pp. 1396-1403
-
-
Majstoravich, S.1
Zhang, J.2
Nicholson-Dykstra, S.3
-
43
-
-
1842559666
-
Early deficit of lymphocytes in Wiskott-Aldrich syndrome: Possible role of WASP in human lymphocyte maturation
-
Park JY, Kob M, Prodeus AP, et al. Early deficit of lymphocytes in Wiskott-Aldrich syndrome: possible role of WASP in human lymphocyte maturation. Clin Exp Immunol 2004; 136:104-110. This cross-sectional study of patients with WAS suggests that this disease is characterized by T lymphopenia and B lymphopenia since early infancy, most likely as the result of impaired output from the thymus and the bone marrow.
-
(2004)
Clin Exp Immunol
, vol.136
, pp. 104-110
-
-
Park, J.Y.1
Kob, M.2
Prodeus, A.P.3
-
44
-
-
0014056068
-
Wiskott-Aldrich syndrome: Clinical, immunologic, and pathologic observations
-
Wolff JA. Wiskott-Aldrich syndrome: clinical, immunologic, and pathologic observations. J Pediatr 1967; 70:221-232.
-
(1967)
J Pediatr
, vol.70
, pp. 221-232
-
-
Wolff, J.A.1
-
45
-
-
0033230229
-
Antigen receptor-induced activation and cytoskeletal rearrangement are impaired in Wiskott-Aldrich syndrome protein-deficient lymphocytes
-
Zhang J, Shehabeldin A, da Cruz LA, et al. Antigen receptor-induced activation and cytoskeletal rearrangement are impaired in Wiskott-Aldrich syndrome protein-deficient lymphocytes. J Exp Med 1999; 190:1329-1342.
-
(1999)
J Exp Med
, vol.190
, pp. 1329-1342
-
-
Zhang, J.1
Shehabeldin, A.2
Da Cruz, L.A.3
-
46
-
-
3042825448
-
Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome
-
Gulino AV, Moratto D, Sozzani S, et al. Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood 2004; 104:444-452.
-
(2004)
Blood
, vol.104
, pp. 444-452
-
-
Gulino, A.V.1
Moratto, D.2
Sozzani, S.3
-
47
-
-
13544261395
-
Phenotypic perturbation of B cells in the Wiskott-Aldrich syndrome
-
Park JY, Shcherbina A, Rosen FS, et al. Phenotypic perturbation of B cells in the Wiskott-Aldrich syndrome. Clin Exp Immunol 2005; 139:297-305. This paper supports the idea that WASP mutations in humans result in intrinsic B cell abnormalities, with an excess of circulating germinal center B cell precursors and a defect of post-germinal center B lymphocytes.
-
(2005)
Clin Exp Immunol
, vol.139
, pp. 297-305
-
-
Park, J.Y.1
Shcherbina, A.2
Rosen, F.S.3
-
48
-
-
0032211714
-
A critical role for complement in maintenance of self-tolerance
-
Prodeus AP, Goerg S, Shen LM, et al. A critical role for complement in maintenance of self-tolerance. Immunity 1998; 9:721-731.
-
(1998)
Immunity
, vol.9
, pp. 721-731
-
-
Prodeus, A.P.1
Goerg, S.2
Shen, L.M.3
-
49
-
-
0942276831
-
Differential contribution of Wiskott-Aldrich syndrome protein to selective advantage in T-and B-cell lineages
-
Konno A, Wada T, Schurman SH, et al. Differential contribution of Wiskott-Aldrich syndrome protein to selective advantage in T-and B-cell lineages. Blood 2004; 103:676-678. By studying one patient with somatic reversion of the WASP gene mutation, the authors demonstrated that WASP protein expression confers a stronger selective advantage to T but not B lymphocytes.
-
(2004)
Blood
, vol.103
, pp. 676-678
-
-
Konno, A.1
Wada, T.2
Schurman, S.H.3
-
50
-
-
0344305784
-
Cell migration: Integrating signals from front to back
-
Ridley AJ, Schwartz MA, Burridge K, et al. Cell migration: integrating signals from front to back. Science 2003; 302:1704-1709.
-
(2003)
Science
, vol.302
, pp. 1704-1709
-
-
Ridley, A.J.1
Schwartz, M.A.2
Burridge, K.3
-
51
-
-
7944238828
-
Wiskott-Aldrich syndrome protein and the cytoskeletal dynamics of dendritic cells
-
Calle Y, Chou HC, Thrasher AJ, Jones GE. Wiskott-Aldrich syndrome protein and the cytoskeletal dynamics of dendritic cells. J Pathol 2004; 204:460-469.
-
(2004)
J Pathol
, vol.204
, pp. 460-469
-
-
Calle, Y.1
Chou, H.C.2
Thrasher, A.J.3
Jones, G.E.4
-
52
-
-
1642539127
-
Maturation of DC is associated with changes in motile characteristics and adherence
-
Burns S, Hardy SJ, Buddle J, et al. Maturation of DC is associated with changes in motile characteristics and adherence. Cell Motil Cytoskeleton 2004; 57:118-132.
-
(2004)
Cell Motil Cytoskeleton
, vol.57
, pp. 118-132
-
-
Burns, S.1
Hardy, S.J.2
Buddle, J.3
-
53
-
-
0036227207
-
Restoration of podosomes and chemotaxis in Wiskott-Aldrich syndrome macrophages following induced expression of WASp
-
Jones GE, Zicha D, Dunn GA, et al. Restoration of podosomes and chemotaxis in Wiskott-Aldrich syndrome macrophages following induced expression of WASp. Int J Biochem Cell Biol 2002; 34:806-815.
-
(2002)
Int J Biochem Cell Biol
, vol.34
, pp. 806-815
-
-
Jones, G.E.1
Zicha, D.2
Dunn, G.A.3
-
54
-
-
1942456777
-
WASp deficiency in mice results in failure to form osteoclast sealing zones and defects in bone resorption
-
Calle Y, Jones GE, Jagger C, et al. WASp deficiency in mice results in failure to form osteoclast sealing zones and defects in bone resorption. Blood 2004; 103:3552-3561. This paper showed for the first time that WASP is essential for normal osteoclast morphology and function, and it demonstrated that WASP-null mice undergo impaired bone resorption when exposed to resorption challenge.
-
(2004)
Blood
, vol.103
, pp. 3552-3561
-
-
Calle, Y.1
Jones, G.E.2
Jagger, C.3
-
55
-
-
13544267428
-
Impaired dendritic-cell homing in vivo in the absence of Wiskott-Aldrich syndrome protein
-
de Noronha S, Hardy S, Sinclair J, et al. Impaired dendritic-cell homing in vivo in the absence of Wiskott-Aldrich syndrome protein. Blood 2005; 105:1590-1597. This paper demonstrates that WASP deficiency in mice results in impaired adhesion and migration of dendritic cells both in vitro and in vivo. These data offer the basis for the observed immune dysregulation of WAS.
-
(2005)
Blood
, vol.105
, pp. 1590-1597
-
-
De Noronha, S.1
Hardy, S.2
Sinclair, J.3
-
56
-
-
0242551584
-
Homing and cellular traffic in lymph nodes
-
von Andrian UH, Mempel TR. Homing and cellular traffic in lymph nodes. Nat Rev Immunol 2003; 3:867-878.
-
(2003)
Nat Rev Immunol
, vol.3
, pp. 867-878
-
-
Von Andrian, U.H.1
Mempel, T.R.2
-
57
-
-
0033578374
-
Wiskott-Aldrich syndrome protein regulates podosomes in primary human macrophages
-
Linder S, Nelson D, Weiss M, Aepfelbacher M. Wiskott-Aldrich syndrome protein regulates podosomes in primary human macrophages. Proc Natl Acad Sci USA 1999; 96:9648-9653.
-
(1999)
Proc Natl Acad Sci USA
, vol.96
, pp. 9648-9653
-
-
Linder, S.1
Nelson, D.2
Weiss, M.3
Aepfelbacher, M.4
-
58
-
-
0032975318
-
The spleen in the Wiskott-Aldrich syndrome: Histopathologic abnormalities of the white pulp correlate with the clinical phenotype of the disease
-
Vermi W, Blanzuoli L, Kraus MD, et al. The spleen in the Wiskott-Aldrich syndrome: histopathologic abnormalities of the white pulp correlate with the clinical phenotype of the disease. Am J Surg Pathol 1999; 23:182-191.
-
(1999)
Am J Surg Pathol
, vol.23
, pp. 182-191
-
-
Vermi, W.1
Blanzuoli, L.2
Kraus, M.D.3
-
59
-
-
8644281284
-
NK cell activation by dendritic cells (DCs) requires the formation of a synapse leading to IL-12 polarization in DCs
-
Borg C, Jalil A, Laderach D, et al. NK cell activation by dendritic cells (DCs) requires the formation of a synapse leading to IL-12 polarization in DCs. Blood 2004; 104:3267-3275. The authors show that WASP is critically required for cytoskeletal remodeling of dendritic cells and the formation of the immunologic synapse between dendritic cells and NK lymphocytes. These abnormalities may affect the shaping of adaptive immunity in WAS.
-
(2004)
Blood
, vol.104
, pp. 3267-3275
-
-
Borg, C.1
Jalil, A.2
Laderach, D.3
-
60
-
-
0023894281
-
Infantile cortical hyperostosis associated with the Wiskott-Aldrich syndrome
-
Abinun M, Mikuska M, Filipovic B. Infantile cortical hyperostosis associated with the Wiskott-Aldrich syndrome. Eur J Pediatr 1988; 147:518-519.
-
(1988)
Eur J Pediatr
, vol.147
, pp. 518-519
-
-
Abinun, M.1
Mikuska, M.2
Filipovic, B.3
|