-
1
-
-
0027525387
-
Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 patients
-
Stephan JL, Vlekova V, Le Deist F, Blanche S, Donadieu J, De Saint Basile G, Durandy A, Griscelli C, Fischer A: Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr 1993, 123:564-572.
-
(1993)
J Pediatr
, vol.123
, pp. 564-572
-
-
Stephan, J.L.1
Vlekova, V.2
Le Deist, F.3
Blanche, S.4
Donadieu, J.5
De Saint Basile, G.6
Durandy, A.7
Griscelli, C.8
Fischer, A.9
-
3
-
-
0030862399
-
Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight Infants
-
Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, Roberts JL, Puck JM: Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight Infants. J Pediatr 1997, 130:378-387. This is a report of the clinical and laboratory presentation of a large series of patients with SCID which is useful because it compares and differentiates different forms of SCID.
-
(1997)
J Pediatr
, vol.130
, pp. 378-387
-
-
Buckley, R.H.1
Schiff, R.I.2
Schiff, S.E.3
Markert, M.L.4
Williams, L.W.5
Harville, T.O.6
Roberts, J.L.7
Puck, J.M.8
-
4
-
-
0027403374
-
Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans
-
Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ: Interleukin-2 receptor γ chain mutation results in X-linked severe combined immunodeficiency in humans. Cell 1993, 73:147-157.
-
(1993)
Cell
, vol.73
, pp. 147-157
-
-
Noguchi, M.1
Yi, H.2
Rosenblatt, H.M.3
Filipovich, A.H.4
Adelstein, S.5
Modi, W.S.6
McBride, O.W.7
Leonard, W.J.8
-
5
-
-
0027320217
-
The interleukin-2 receptor γ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficency, SCIDX1
-
Puck JM, Deschenes SM, Porter JC, Dutra AS, Brown CJ, Willard HF, Henthom PS: The interleukin-2 receptor γ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficency, SCIDX1. Hum Mol Genet 1993, 2:1099-1104.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 1099-1104
-
-
Puck, J.M.1
Deschenes, S.M.2
Porter, J.C.3
Dutra, A.S.4
Brown, C.J.5
Willard, H.F.6
Henthom, P.S.7
-
6
-
-
0027731604
-
Sharing of the interleukin-2 (IL2) receptor γ chain between receptors for IL-2 and IL-4
-
Kondo M, Takeshita T, Ishii N, Nakamura M, Watanabe S, Arai K, Sugamura K: Sharing of the interleukin-2 (IL2) receptor γ chain between receptors for IL-2 and IL-4. Science 1993, 262:1874-1877.
-
(1993)
Science
, vol.262
, pp. 1874-1877
-
-
Kondo, M.1
Takeshita, T.2
Ishii, N.3
Nakamura, M.4
Watanabe, S.5
Arai, K.6
Sugamura, K.7
-
7
-
-
0027751556
-
Interleukin-2 receptor γ chain: A functional component of the interleukin-7 receptor
-
Noguchi M, Nakamura Y, Russell SM, Ziegler SF, Tsang M, Cao X, Leonard WJ: Interleukin-2 receptor γ chain: a functional component of the interleukin-7 receptor. Science 1993, 262:1877-1880.
-
(1993)
Science
, vol.262
, pp. 1877-1880
-
-
Noguchi, M.1
Nakamura, Y.2
Russell, S.M.3
Ziegler, S.F.4
Tsang, M.5
Cao, X.6
Leonard, W.J.7
-
8
-
-
0028221433
-
Utilization of the β and γ chains of the IL-2 receptor by the novel cytokine IL-15
-
Giri JG, Ahdieh M, Eisenman J, Shanebeck K, Grabstein K, Kumaki S, Namen A, Park LS, Cosman D, Anderson D: Utilization of the β and γ chains of the IL-2 receptor by the novel cytokine IL-15. EMBO J 1994, 13:2822-2830.
-
(1994)
EMBO J
, vol.13
, pp. 2822-2830
-
-
Giri, J.G.1
Ahdieh, M.2
Eisenman, J.3
Shanebeck, K.4
Grabstein, K.5
Kumaki, S.6
Namen, A.7
Park, L.S.8
Cosman, D.9
Anderson, D.10
-
9
-
-
0028978898
-
The common γ chain for multiple cytokine receptors
-
Sugamura K, Asao H, Kondo M, Tanaka N, Ishii N, Nakamura M, Takeshita T: The common γ chain for multiple cytokine receptors. Adv Immunol 1995, 59:225-277.
-
(1995)
Adv Immunol
, vol.59
, pp. 225-277
-
-
Sugamura, K.1
Asao, H.2
Kondo, M.3
Tanaka, N.4
Ishii, N.5
Nakamura, M.6
Takeshita, T.7
-
10
-
-
0025289836
-
Absence of interleukin 2 production in a severe combined immunodeficiency disease syndrome with T cells
-
Disanto JP, Keever CA, Small TN, Nichols GL, O'Reilly RJ, Flomenberg N: Absence of interleukin 2 production in a severe combined immunodeficiency disease syndrome with T cells. J Exp Med 1990, 171:1697-1704.
-
(1990)
J Exp Med
, vol.171
, pp. 1697-1704
-
-
Disanto, J.P.1
Keever, C.A.2
Small, T.N.3
Nichols, G.L.4
O'Reilly, R.J.5
Flomenberg, N.6
-
11
-
-
0025899598
-
Development and function of T cells in mice rendered interleukin-2 deficient by gene targeting
-
Schorle H, Holtschke T, Hunig T, Schimpl A, Horak I: Development and function of T cells in mice rendered interleukin-2 deficient by gene targeting. Nature 1991, 352:621-624.
-
(1991)
Nature
, vol.352
, pp. 621-624
-
-
Schorle, H.1
Holtschke, T.2
Hunig, T.3
Schimpl, A.4
Horak, I.5
-
12
-
-
0028929565
-
Lymphopenia in interleukin (IL)-7 gene-deleted mice identifies IL-7 as a nonredundant cytokine
-
von Freeden-Jeffry U, Vieira P, Lucian LA, McNeil T, Burdach SEG, Murray R: Lymphopenia in interleukin (IL)-7 gene-deleted mice identifies IL-7 as a nonredundant cytokine. J Exp Med 1995, 181:1519-1526.
-
(1995)
J Exp Med
, vol.181
, pp. 1519-1526
-
-
Von Freeden-Jeffry, U.1
Vieira, P.2
Lucian, L.A.3
McNeil, T.4
Burdach, S.E.G.5
Murray, R.6
-
13
-
-
0027988545
-
Early lymphocyte expansion is severely impaired in interleukin 7 receptor-deficient mice
-
Peschon JJ, Morrissey PJ, Grabstein KH, Ramsdell FJ, Maraskovsky E, Gliniak BC, Park LS, Ziegler SF, Williams DE, Ware CB, et al.: Early lymphocyte expansion is severely impaired in interleukin 7 receptor-deficient mice. J Exp Med 1994, 180:1955-1960.
-
(1994)
J Exp Med
, vol.180
, pp. 1955-1960
-
-
Peschon, J.J.1
Morrissey, P.J.2
Grabstein, K.H.3
Ramsdell, F.J.4
Maraskovsky, E.5
Gliniak, B.C.6
Park, L.S.7
Ziegler, S.F.8
Williams, D.E.9
Ware, C.B.10
-
14
-
-
0029957040
-
Interleukin 7 receptor-deficient mice lack γδ T cells
-
Maki K, Sunaga S, Komagata Y, Kodaira Y, Mabuchi A, Karasuyama H, Yokomuro K, Miyazaki J, Ikuta K: Interleukin 7 receptor-deficient mice lack γδ T cells. Proc Natl Acad Sci U S A 1996, 93:7172-7177.
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 7172-7177
-
-
Maki, K.1
Sunaga, S.2
Komagata, Y.3
Kodaira, Y.4
Mabuchi, A.5
Karasuyama, H.6
Yokomuro, K.7
Miyazaki, J.8
Ikuta, K.9
-
16
-
-
0029164841
-
Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)
-
Macchi P, Villa A, Gilliani S, Sacco MG, Frattini A, Porta F, Ugazio AG, Johnston JA, Candotti F, O'Shea JJ, et al.: Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature 1995, 377:65-68.
-
(1995)
Nature
, vol.377
, pp. 65-68
-
-
Macchi, P.1
Villa, A.2
Gilliani, S.3
Sacco, M.G.4
Frattini, A.5
Porta, F.6
Ugazio, A.G.7
Johnston, J.A.8
Candotti, F.9
O'Shea, J.J.10
-
17
-
-
0028857954
-
Mutation of Jak3 in a patient with SCID: Essential role of Jak3 in lymphoid development
-
Russell SM, Tayebi N, Nakajima H, Riedy MC, Roberts JL, Aman MJ, Migone T, Noguchi M, Markert ML, Buckley RH, et al.: Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development Science 1995, 270:797-800.
-
(1995)
Science
, vol.270
, pp. 797-800
-
-
Russell, S.M.1
Tayebi, N.2
Nakajima, H.3
Riedy, M.C.4
Roberts, J.L.5
Aman, M.J.6
Migone, T.7
Noguchi, M.8
Markert, M.L.9
Buckley, R.H.10
-
18
-
-
0028840706
-
Defective lymphoid development in mice lacking Jak3
-
Nosaka T, van Deursen JMA, Tripp RA, Thierfelder WE, Witthuhn BA, McMickle AP, Doherty PC, Grosveld GC, Ihle JN: Defective lymphoid development in mice lacking Jak3. Science 1995, 270:800-802.
-
(1995)
Science
, vol.270
, pp. 800-802
-
-
Nosaka, T.1
Van Deursen, J.M.A.2
Tripp, R.A.3
Thierfelder, W.E.4
Witthuhn, B.A.5
McMickle, A.P.6
Doherty, P.C.7
Grosveld, G.C.8
Ihle, J.N.9
-
19
-
-
0028964465
-
Cytokine signaling through nonreceptor protein tyrosine kinases
-
Taniguchi T: Cytokine signaling through nonreceptor protein tyrosine kinases. Science 1995, 268:251-255.
-
(1995)
Science
, vol.268
, pp. 251-255
-
-
Taniguchi, T.1
-
20
-
-
10144253125
-
RAG mutations in human B cell-negative SCID
-
Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Seger RA, Hansen-Hagge TE, Desiderio S, et al.: RAG mutations in human B cell-negative SCID. Science 1996, 274:97-99. This is the first report of mutations of the recombinase activating genes (RAG). A remarkable proportion of B-cell negative patients with SCID studied (six of 14) were found to have RAG mutations, indicating that this may be an relatively common cause of SCID.
-
(1996)
Science
, vol.274
, pp. 97-99
-
-
Schwarz, K.1
Gauss, G.H.2
Ludwig, L.3
Pannicke, U.4
Li, Z.5
Lindner, D.6
Friedrich, W.7
Seger, R.A.8
Hansen-Hagge, T.E.9
Desiderio, S.10
-
21
-
-
0029839483
-
Recent advances in the genetics of primary immunodeficiency syndromes
-
Shyur S, Hill HR: Recent advances in the genetics of primary immunodeficiency syndromes. J Pediatr 1996, 129:8-24. This is a good and fairly comprehensive review of the genetics of the primary immunodeficiency syndromes.
-
(1996)
J Pediatr
, vol.129
, pp. 8-24
-
-
Shyur, S.1
Hill, H.R.2
-
22
-
-
0030475849
-
X-linked agammaglobulinemia: A clinical and molecular analysis
-
Ochs HD, Smith CIE: X-linked agammaglobulinemia: a clinical and molecular analysis. Medicine (Baltimore) 1996, 75:287-299.
-
(1996)
Medicine (Baltimore)
, vol.75
, pp. 287-299
-
-
Ochs, H.D.1
Smith, C.I.E.2
-
23
-
-
0010581856
-
The molecular basis of primary immunodeficiency disorders
-
Edited by Kazatckine MD, Morell A. London:The Parthenon Publishing Group
-
Ochs HD: The molecular basis of primary immunodeficiency disorders. In Intravenous Immunoglobulin Research and Therapy. Edited by Kazatckine MD, Morell A. London:The Parthenon Publishing Group; 1996:175-191. This is a review of the primary immunodeficiency disorders with special, detailed attention to XLA, X-linked hyper-IgM syndrome, Wiskott-Aldrich syndrome, ataxia-telangiectasia, and the various forms of SCID.
-
(1996)
Intravenous Immunoglobulin Research and Therapy
, pp. 175-191
-
-
Ochs, H.D.1
-
24
-
-
0027399081
-
Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia
-
Tsukada S, Saffran DC, Rawlings DJ, Parolini O, Allen RC, Klisak I, Sparkes RS, Kubagawa H, Mohanadas T, Quan, S, et al.: Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia. Cell 1993, 72:279-290.
-
(1993)
Cell
, vol.72
, pp. 279-290
-
-
Tsukada, S.1
Saffran, D.C.2
Rawlings, D.J.3
Parolini, O.4
Allen, R.C.5
Klisak, I.6
Sparkes, R.S.7
Kubagawa, H.8
Mohanadas, T.9
Quan, S.10
-
25
-
-
0027441332
-
The gene involved in X-linked agammaglobulinemia is a member of the src family of proteln-tyrosine kinases
-
Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, Hammarstrom L, Kinnon C, Levinsky R, Bobrow M, et al.: The gene involved in X-linked agammaglobulinemia is a member of the src family of proteln-tyrosine kinases. Nature 1993, 361:226-233.
-
(1993)
Nature
, vol.361
, pp. 226-233
-
-
Vetrie, D.1
Vorechovsky, I.2
Sideras, P.3
Holland, J.4
Davies, A.5
Flinter, F.6
Hammarstrom, L.7
Kinnon, C.8
Levinsky, R.9
Bobrow, M.10
-
26
-
-
0029824848
-
Mutation of the p-strin homology domain of Bruton's tyrosine kinase in immunodeficiency impaired inositol 1,3,4,5-tetrakisphosphate binding capacity
-
Fukuda M, Kojima T, Kabayama H, Mikoshiba K: Mutation of the p-strin homology domain of Bruton's tyrosine kinase in immunodeficiency impaired inositol 1,3,4,5-tetrakisphosphate binding capacity. J Biol Chem 1996, 271:30303-30306.
-
(1996)
J Biol Chem
, vol.271
, pp. 30303-30306
-
-
Fukuda, M.1
Kojima, T.2
Kabayama, H.3
Mikoshiba, K.4
-
27
-
-
0030018304
-
A role for Bruton's tyrosine kinase in B cell antigen receptor-mediated activation of phospholipase C-72
-
Takata M, Kurosaki T: A role for Bruton's tyrosine kinase in B cell antigen receptor-mediated activation of phospholipase C-72. J Exp Med 1996, 184:31-40.
-
(1996)
J Exp Med
, vol.184
, pp. 31-40
-
-
Takata, M.1
Kurosaki, T.2
-
28
-
-
0030267068
-
An essential rote for tyrosine kinase in the regulation of Bruton's B-cell apoptosis
-
Anderson JS, Teutsch M, Dong Z, Wortis HH: An essential rote for tyrosine kinase in the regulation of Bruton's B-cell apoptosis. Proc Natl Acad Sci U S A 1996, 93:10966-10971.
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 10966-10971
-
-
Anderson, J.S.1
Teutsch, M.2
Dong, Z.3
Wortis, H.H.4
-
29
-
-
0028033527
-
B-cell antigen receptor stimulation activates the human Bruton's tyrosine kinase, which is deficient in X-linked agammaglobulinemia
-
de Weers M, Brouns GS, Hinshelwood S, Kinnon C, Schuurman RKB, Hendnks RW, Borst J: B-cell antigen receptor stimulation activates the human Bruton's tyrosine kinase, which is deficient in X-linked agammaglobulinemia. J Biol Chem 1994, 269:23857-23860.
-
(1994)
J Biol Chem
, vol.269
, pp. 23857-23860
-
-
De Weers, M.1
Brouns, G.S.2
Hinshelwood, S.3
Kinnon, C.4
Schuurman, R.K.B.5
Hendnks, R.W.6
Borst, J.7
-
30
-
-
0028151518
-
Bruton tyrosine kinase is tyrosine phosphorylated and activated in pre-B lymphocytes and receptor-ligated B cells
-
Aoki Y, Isselbacher KJ, Pillai S: Bruton tyrosine kinase is tyrosine phosphorylated and activated in pre-B lymphocytes and receptor-ligated B cells. Proc Natl Acad Sci U S A 1994, 91:10606-10609.
-
(1994)
Proc Natl Acad Sci U S A
, vol.91
, pp. 10606-10609
-
-
Aoki, Y.1
Isselbacher, K.J.2
Pillai, S.3
-
31
-
-
10344239867
-
Mutatins in the μ heavy-chain gene in patients with agammaglobulinemia
-
Yel L, Minegishi Y, Coustan-Smith E, Buckley RH, Trubel H, Pachman LM, Kitchingman GR, Campana D, Rohrer J, Conley ME: Mutatins in the μ heavy-chain gene in patients with agammaglobulinemia. N Engl J Med 1996, 335:1486-1493. This is the first molecular description of patients with agammaglobulinemia of autosomal inheritance. This report also serves to illustrate the importance of an intact, membrane-bound μ chain to B-cell development.
-
(1996)
N Engl J Med
, vol.335
, pp. 1486-1493
-
-
Yel, L.1
Minegishi, Y.2
Coustan-Smith, E.3
Buckley, R.H.4
Trubel, H.5
Pachman, L.M.6
Kitchingman, G.R.7
Campana, D.8
Rohrer, J.9
Conley, M.E.10
-
32
-
-
0028116532
-
A multi-institutional survey of the Wiskott-Aldrich syndrome
-
Sullivan KE, Mullen CA, Blaese RM, Winkelstein JA: A multi-institutional survey of the Wiskott-Aldrich syndrome. J Pediatr 1994, 125:876-885.
-
(1994)
J Pediatr
, vol.125
, pp. 876-885
-
-
Sullivan, K.E.1
Mullen, C.A.2
Blaese, R.M.3
Winkelstein, J.A.4
-
33
-
-
0018834588
-
The Wiskott-Aldrich syndrome: Studies of lymphocytes, granulocytes, and platelets
-
Ochs HD, Slichter SJ, Harker LA, Von Behrens WE, Clark RA, Wedgwood RJ: The Wiskott-Aldrich syndrome: studies of lymphocytes, granulocytes, and platelets. Blood 1980, 55:243-252.
-
(1980)
Blood
, vol.55
, pp. 243-252
-
-
Ochs, H.D.1
Slichter, S.J.2
Harker, L.A.3
Von Behrens, W.E.4
Clark, R.A.5
Wedgwood, R.J.6
-
34
-
-
0027937223
-
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
-
Derry JMJ, Ochs HD, Francke U: Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell 1994, 78:635-44.
-
(1994)
Cell
, vol.78
, pp. 635-644
-
-
Derry, J.M.J.1
Ochs, H.D.2
Francke, U.3
-
35
-
-
0022893107
-
Morphological abnormalities in the lymphocytes of patients with the Wiskott-Aldrich syndrome
-
Kenney D, Cairns L, Remold-O'Donnell E, Peterson J, Rosen FS, Parkman R: Morphological abnormalities in the lymphocytes of patients with the Wiskott-Aldrich syndrome. Blood 1986, 68:1329-1332.
-
(1986)
Blood
, vol.68
, pp. 1329-1332
-
-
Kenney, D.1
Cairns, L.2
Remold-O'Donnell, E.3
Peterson, J.4
Rosen, F.S.5
Parkman, R.6
-
36
-
-
0029988146
-
Defects in Wiskott-Aldrich syndrome blood cells
-
Remold-O'Donnell E, Rosen FS, Kenney DM: Defects in Wiskott-Aldrich syndrome blood cells. Blood 1996, 87:2621-2631.
-
(1996)
Blood
, vol.87
, pp. 2621-2631
-
-
Remold-O'Donnell, E.1
Rosen, F.S.2
Kenney, D.M.3
-
37
-
-
0029126878
-
Wiskott-Aldrich syndrome protein physically associates with Nck through Src homology 3 domains
-
Rivero-Lezcano OM, Marcilla A, Sameshima JH, Robbins KC: Wiskott-Aldrich syndrome protein physically associates with Nck through Src homology 3 domains. Mol Cell Biol 1995, 15:5725-5731.
-
(1995)
Mol Cell Biol
, vol.15
, pp. 5725-5731
-
-
Rivero-Lezcano, O.M.1
Marcilla, A.2
Sameshima, J.H.3
Robbins, K.C.4
-
38
-
-
0030000795
-
Identification of regions of the Wiskott-Aldrich syndrome protein responsible for association with selected Src homology 3 domains
-
Finan PM, Soames CJ, Wilson L, Nelson DL, Stewart DM, Truong O, Hsuan JJ, Kellie S: Identification of regions of the Wiskott-Aldrich syndrome protein responsible for association with selected Src homology 3 domains. J Biol Chem 1996, 271:26291-26295.
-
(1996)
J Biol Chem
, vol.271
, pp. 26291-26295
-
-
Finan, P.M.1
Soames, C.J.2
Wilson, L.3
Nelson, D.L.4
Stewart, D.M.5
Truong, O.6
Hsuan, J.J.7
Kellie, S.8
-
39
-
-
0030221475
-
Wiskott Aldrich syndrome protein (WASp) is a binding partner for c-Src family protein-tyrosine kinases
-
Banin S, Truong O, Katz DR, Waterfield MD, Brickell PM, Gout I: Wiskott Aldrich syndrome protein (WASp) is a binding partner for c-Src family protein-tyrosine kinases. Curr Biol 1996, 6:981-988.
-
(1996)
Curr Biol
, vol.6
, pp. 981-988
-
-
Banin, S.1
Truong, O.2
Katz, D.R.3
Waterfield, M.D.4
Brickell, P.M.5
Gout, I.6
-
40
-
-
0030292702
-
Evidence that the Wiskott-Aldrich syndrome protein may be Involved in lymphoid cell signaling pathways
-
Cory GO, MacCarthy-Morrogh L, Banin S, Gout I, Brickell PM, Levinsky RJ, Kinnon C, Lovering RC: Evidence that the Wiskott-Aldrich syndrome protein may be Involved in lymphoid cell signaling pathways. J Immunol 1996, 157:3791-3795.
-
(1996)
J Immunol
, vol.157
, pp. 3791-3795
-
-
Cory, G.O.1
MacCarthy-Morrogh, L.2
Banin, S.3
Gout, I.4
Brickell, P.M.5
Levinsky, R.J.6
Kinnon, C.7
Lovering, R.C.8
-
41
-
-
0030006284
-
Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42HS, is implicated in actin polymerization
-
Symons M, Derry JMJ, Karlak B, Jiang S, Lamahieu V, McCormick F, Francke U, Abo A: Wiskott-Aldrich syndrome protein, a novel effector for the GTPase CDC42HS, is implicated in actin polymerization. Cell 1996, 84:723-734.
-
(1996)
Cell
, vol.84
, pp. 723-734
-
-
Symons, M.1
Derry, J.M.J.2
Karlak, B.3
Jiang, S.4
Lamahieu, V.5
McCormick, F.6
Francke, U.7
Abo, A.8
-
42
-
-
0029953158
-
Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42
-
Kolluri R, Tolias KF, Carpenter CL, Rosen FS, Kirchhausen T: Direct interaction of the Wiskott-Aldrich syndrome protein with the GTPase Cdc42. Proc Natl Acad Sci U S A 1996, 93:5615-5618.
-
(1996)
Proc Natl Acad Sci U S A
, vol.93
, pp. 5615-5618
-
-
Kolluri, R.1
Tolias, K.F.2
Carpenter, C.L.3
Rosen, F.S.4
Kirchhausen, T.5
-
43
-
-
0029680639
-
Two GTPases, Cdc42 and Rac, bind directly to a protein implicated in the immunodeficiency disorder Wiskott-Aldrich syndrome
-
Aspenstrom P, Lindberg U, Hall A: Two GTPases, Cdc42 and Rac, bind directly to a protein implicated in the immunodeficiency disorder Wiskott-Aldrich syndrome. Curr Biol 1995, 6:70-75.
-
(1995)
Curr Biol
, vol.6
, pp. 70-75
-
-
Aspenstrom, P.1
Lindberg, U.2
Hall, A.3
-
44
-
-
0028786020
-
A conserved binding motif defines numerous candidate target proteins for both Cdc42 and Rac GTPases
-
Burbelo PD, Drechsel D, Hall A: A conserved binding motif defines numerous candidate target proteins for both Cdc42 and Rac GTPases. J Biol Chem 1995, 270:29071-29074.
-
(1995)
J Biol Chem
, vol.270
, pp. 29071-29074
-
-
Burbelo, P.D.1
Drechsel, D.2
Hall, A.3
-
45
-
-
0029815611
-
N-WASP, a novel actin-depolymerizing protein, regulates the cortical cytoskeletal rearrangement in a PIP2-dependent manner downstream of tyrosine kineses
-
Miki H, Miura K, Takenawa T: N-WASP, a novel actin-depolymerizing protein, regulates the cortical cytoskeletal rearrangement in a PIP2-dependent manner downstream of tyrosine kineses. EMBO J 1996, 15:5326-5335. This report, and the one by Li (J Cell Biol 1997, 136:649-658), gives important clues about the function of WASP by describing the function of a protein that is homologous to WASP.
-
(1996)
EMBO J
, vol.15
, pp. 5326-5335
-
-
Miki, H.1
Miura, K.2
Takenawa, T.3
-
46
-
-
0031045512
-
-
Miki H, Miura K, Takenawa T: N-WASP, a novel actin-depolymerizing protein, regulates the cortical cytoskeletal rearrangement in a PIP2-dependent manner downstream of tyrosine kineses. EMBO J 1996, 15:5326-5335. This report, and the one by Li (J Cell Biol 1997, 136:649-658), gives important clues about the function of WASP by describing the function of a protein that is homologous to WASP.
-
(1997)
J Cell Biol
, vol.136
, pp. 649-658
-
-
Li1
-
47
-
-
0031045512
-
Bee1, a yeast protein with homology to Wiscott-Aldrich syndrome protein, is critical for the assembly of cortical actin cytoskeleton
-
Li R: Bee1, a yeast protein with homology to Wiscott-Aldrich syndrome protein, is critical for the assembly of cortical actin cytoskeleton. J Cell Biol 1997, 136:649-658. This report, and the one by Miki et al. (EMBO J 1996, 15:5326-5335), gives important clues about the function of WASP by describing the function of a protein that is homologous to WASP.
-
(1997)
J Cell Biol
, vol.136
, pp. 649-658
-
-
Li, R.1
-
48
-
-
0029815611
-
-
Li R: Bee1, a yeast protein with homology to Wiscott-Aldrich syndrome protein, is critical for the assembly of cortical actin cytoskeleton. J Cell Biol 1997, 136:649-658. This report, and the one by Miki et al. (EMBO J 1996, 15:5326-5335), gives important clues about the function of WASP by describing the function of a protein that is homologous to WASP.
-
(1996)
EMBO J
, vol.15
, pp. 5326-5335
-
-
Miki1
-
49
-
-
0031134088
-
Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients
-
Remold-O'Donnell E, Cooley J, Shcherbina A, Hagemann TL, Kwan SP, Kenney DM, Rosen FS: 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
Hagemann, T.L.4
Kwan, S.P.5
Kenney, D.M.6
Rosen, F.S.7
-
50
-
-
0030467174
-
A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection
-
Newport MJ, Huxley CM, Huston S, Hawrylowicz CM, Oostra BA, Williamson R, Levin M: A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med 1996, 335:1941-1949. This report, and the one by Jouanguy et al. (N Engl J Med 1996, 335:1956-1961), describes the first recognized cases of interferon gamma-receptor deficiency. These reports also help to define a specific, nonredundant, function for interferon gamma and its receptor.
-
(1996)
N Engl J Med
, vol.335
, pp. 1941-1949
-
-
Newport, M.J.1
Huxley, C.M.2
Huston, S.3
Hawrylowicz, C.M.4
Oostra, B.A.5
Williamson, R.6
Levin, M.7
-
51
-
-
0030455878
-
-
Newport MJ, Huxley CM, Huston S, Hawrylowicz CM, Oostra BA, Williamson R, Levin M: A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection. N Engl J Med 1996, 335:1941-1949. This report, and the one by Jouanguy et al. (N Engl J Med 1996, 335:1956-1961), describes the first recognized cases of interferon gamma-receptor deficiency. These reports also help to define a specific, nonredundant, function for interferon gamma and its receptor.
-
(1996)
N Engl J Med
, vol.335
, pp. 1956-1961
-
-
Jouanguy1
-
52
-
-
0030455878
-
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection
-
Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile J, Newport M, Levin M, Blanche S, Fischer A, Casanova J: Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N Engl J Med 1996, 335:1956-1961. This report, and the one by Newport et al. (N Engl J Med 1996, 335:1941-1949), describes the first recognized cases of interferon gamma-receptor deficiency. These reports also help to define a specific, nonredundant, function for interferon gamma and its receptor.
-
(1996)
N Engl J Med
, vol.335
, pp. 1956-1961
-
-
Jouanguy, E.1
Altare, F.2
Lamhamedi, S.3
Revy, P.4
Emile, J.5
Newport, M.6
Levin, M.7
Blanche, S.8
Fischer, A.9
Casanova, J.10
-
53
-
-
0030467174
-
-
Jouanguy E, Altare F, Lamhamedi S, Revy P, Emile J, Newport M, Levin M, Blanche S, Fischer A, Casanova J: Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guerin infection. N Engl J Med 1996, 335:1956-1961. This report, and the one by Newport et al. (N Engl J Med 1996, 335:1941-1949), describes the first recognized cases of interferon gamma-receptor deficiency. These reports also help to define a specific, nonredundant, function for interferon gamma and its receptor.
-
(1996)
N Engl J Med
, vol.335
, pp. 1941-1949
-
-
Newport1
-
54
-
-
0029908505
-
Home therapy with subcutaneous immunoglobulin infusions in children with congenital immunodeficiencies
-
Abrahamsen TG, Sandersen H, Bustnes A: Home therapy with subcutaneous immunoglobulin infusions in children with congenital immunodeficiencies. Pediatrics 1996, 98:1127-1131.
-
(1996)
Pediatrics
, vol.98
, pp. 1127-1131
-
-
Abrahamsen, T.G.1
Sandersen, H.2
Bustnes, A.3
-
55
-
-
0027420443
-
Haploidentical bone marrow stem cell transplantation in human severe combined immunodeficiency
-
Buckley RH, Schiff SE, Schiff Rl, Roberts JL, Marken ML, Peters W, Williams LW, Ward FE: Haploidentical bone marrow stem cell transplantation in human severe combined immunodeficiency. Semin Hematol 1993, 30:92-101.
-
(1993)
Semin Hematol
, vol.30
, pp. 92-101
-
-
Buckley, R.H.1
Schiff, S.E.2
Schiff, Rl.3
Roberts, J.L.4
Marken, M.L.5
Peters, W.6
Williams, L.W.7
Ward, F.E.8
-
56
-
-
0023631399
-
HLa nonidentical T cell depleted marrow transplants: A comparison of results in patients treated for leukemia and severe combined immunodeficiency disease
-
O'Reilly RJ, Keever C, Keman NA, Brochstein J, Collins N, Flomenberg N, Laver J, Emanuel D, Dupont B, Cunningham I, et al.: HLA nonidentical T cell depleted marrow transplants: a comparison of results in patients treated for leukemia and severe combined immunodeficiency disease. Transplant Proc 1987, 19:55-60.
-
(1987)
Transplant Proc
, vol.19
, pp. 55-60
-
-
O'Reilly, R.J.1
Keever, C.2
Keman, N.A.3
Brochstein, J.4
Collins, N.5
Flomenberg, N.6
Laver, J.7
Emanuel, D.8
Dupont, B.9
Cunningham, I.10
-
57
-
-
0028078755
-
Bone marrow transplantation (BMT) in Europe for primary immunodeficiencies other than severe combined immunodeficiency: A report from the European group for BMT and the European group for immunodeficiency
-
Fischer A, Landais P, Friedrich W, Gerritsen B, Fasth A, Porta F, Vellodi A, Benkerrou M, Jais JP, Cavazzana-Calvo M, et al.: Bone marrow transplantation (BMT) in Europe for primary immunodeficiencies other than severe combined immunodeficiency: a report from the European group for BMT and the European group for immunodeficiency. Blood 1994, 83:1149-1154.
-
(1994)
Blood
, vol.83
, pp. 1149-1154
-
-
Fischer, A.1
Landais, P.2
Friedrich, W.3
Gerritsen, B.4
Fasth, A.5
Porta, F.6
Vellodi, A.7
Benkerrou, M.8
Jais, J.P.9
Cavazzana-Calvo, M.10
-
58
-
-
0029848406
-
Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow
-
Flake AW, Roncarolo M, Puck JM, Almeida-Porada G, Evans Ml, Johnson MP, Abella EM, Harrison DD, Zanjani ED: Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow. N Engl J Med 1996, 335:1806-1810. This report, and the one by Wengler et al. (Lancet 1996, 348:1484-1487), describes a new promising technique for bone marrow transplantation for SCID.
-
(1996)
N Engl J Med
, vol.335
, pp. 1806-1810
-
-
Flake, A.W.1
Roncarolo, M.2
Puck, J.M.3
Almeida-Porada, G.4
Evans, Ml.5
Johnson, M.P.6
Abella, E.M.7
Harrison, D.D.8
Zanjani, E.D.9
-
59
-
-
16144362330
-
-
Flake AW, Roncarolo M, Puck JM, Almeida-Porada G, Evans Ml, Johnson MP, Abella EM, Harrison DD, Zanjani ED: Treatment of X-linked severe combined immunodeficiency by in utero transplantation of paternal bone marrow. N Engl J Med 1996, 335:1806-1810. This report, and the one by Wengler et al. (Lancet 1996, 348:1484-1487), describes a new promising technique for bone marrow transplantation for SCID.
-
(1996)
Lancet
, vol.348
, pp. 1484-1487
-
-
Wengler1
-
60
-
-
16144362330
-
In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDX1)
-
Wengler GS, Lanfranchi A, Frusca T, Varardi R, Neva A, Brugnoni D, Gilliani S, Fiorini M, Mella P, Guandalini F, et al.: In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDX1). Lancet 1996, 348:1484-1487. This report, and the one by Flake et al. (N Engl J Med 1998, 335:1806-1810), describes a new promising technique for bone marrow transplantation for SCID.
-
(1996)
Lancet
, vol.348
, pp. 1484-1487
-
-
Wengler, G.S.1
Lanfranchi, A.2
Frusca, T.3
Varardi, R.4
Neva, A.5
Brugnoni, D.6
Gilliani, S.7
Fiorini, M.8
Mella, P.9
Guandalini, F.10
-
61
-
-
0029848406
-
-
Wengler GS, Lanfranchi A, Frusca T, Varardi R, Neva A, Brugnoni D, Gilliani S, Fiorini M, Mella P, Guandalini F, et al.: In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDX1). Lancet 1996, 348:1484-1487. This report, and the one by Flake et al. (N Engl J Med 1998, 335:1806-1810), describes a new promising technique for bone marrow transplantation for SCID.
-
(1998)
N Engl J Med
, vol.335
, pp. 1806-1810
-
-
Flake1
-
62
-
-
0028807727
-
- SCID: Initial trial results after 4 years
-
- SCID: initial trial results after 4 years. Science 1995, 270:475-480.
-
(1995)
Science
, vol.270
, pp. 475-480
-
-
Blaese, R.M.1
Culver, K.W.2
Miller, A.D.3
Carter, C.S.4
Fleisher, T.5
Clerici, M.6
Shearer, G.7
Chang, L.8
Chiang, Y.9
Tolstoshev, P.10
-
63
-
-
0028789792
-
- immunodeficient patients
-
- immunodeficient patients. Science 1995, 270:470-475.
-
(1995)
Science
, vol.270
, pp. 470-475
-
-
Bordignon, C.1
Notarangelo, L.D.2
Nobili, N.3
Ferrari, G.4
Casorati, G.5
Panina, P.6
Mazzolari, E.7
Maggioni, D.8
Rossi, C.9
Servida, P.10
-
64
-
-
0028864561
-
Engraftment of gene-modified umbilical cord blood cells in neonates with adenosine deaminase deficiency
-
Kohn DB, Weinberg KI, Nolta JA, Heisa LN, Lenarsky C, Crooks GM, Hanley ME, Annett G, Brooks JS, El-Khoureiy A, et al.: Engraftment of gene-modified umbilical cord blood cells in neonates with adenosine deaminase deficiency. Nat Med 1995, 1:1017-1023.
-
(1995)
Nat Med
, vol.1
, pp. 1017-1023
-
-
Kohn, D.B.1
Weinberg, K.I.2
Nolta, J.A.3
Heisa, L.N.4
Lenarsky, C.5
Crooks, G.M.6
Hanley, M.E.7
Annett, G.8
Brooks, J.S.9
El-Khoureiy, A.10
-
65
-
-
0030008035
-
Retroviral-mediated gene correction for X-linked severe combined immunodeficiency
-
Candotti F, Johnston JA, Puck JM, Sugamura K, O'Shea JJ, Blaese RM: Retroviral-mediated gene correction for X-linked severe combined immunodeficiency. Blood 1996, 87:3097-3102.
-
(1996)
Blood
, vol.87
, pp. 3097-3102
-
-
Candotti, F.1
Johnston, J.A.2
Puck, J.M.3
Sugamura, K.4
O'Shea, J.J.5
Blaese, R.M.6
-
66
-
-
15844426339
-
γc Gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function
-
Hacein-Bey S, Cavazzana-Calvo M, Le Deist F, Dautry-Varsat A, Hivroz C, Riviere I, Danos O, Heard JM, Sugamura K, Fischer A, De Saint Basile G: γc Gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function. Blood 1996, 87:3108-3116.
-
(1996)
Blood
, vol.87
, pp. 3108-3116
-
-
Hacein-Bey, S.1
Cavazzana-Calvo, M.2
Le Deist, F.3
Dautry-Varsat, A.4
Hivroz, C.5
Riviere, I.6
Danos, O.7
Heard, J.M.8
Sugamura, K.9
Fischer, A.10
De Saint Basile, G.11
-
67
-
-
0029866741
-
Correction of interieukin-2 receptor function in X-SCID lymphoblastoid cells by retrovirally mediated transfer of the 1C gene
-
Taylor N, Uribe L, Smith S, Jahn T, Kohn DB, Weinberg K: Correction of interieukin-2 receptor function in X-SCID lymphoblastoid cells by retrovirally mediated transfer of the 1C gene. Blood 1996, 87:3103-3107.
-
(1996)
Blood
, vol.87
, pp. 3103-3107
-
-
Taylor, N.1
Uribe, L.2
Smith, S.3
Jahn, T.4
Kohn, D.B.5
Weinberg, K.6
-
68
-
-
0029896604
-
In vitro correction of JAK3-deficient severe combined imunodeficiency by retroviral-mediated gene transduction
-
Candotti F, Oakes SA, Johnston JA, Notarangelo LD, O'Shea JJ, Blaese RM: In vitro correction of JAK3-deficient severe combined imunodeficiency by retroviral-mediated gene transduction. J Exp Med 1996, 183:2687-2692.
-
(1996)
J Exp Med
, vol.183
, pp. 2687-2692
-
-
Candotti, F.1
Oakes, S.A.2
Johnston, J.A.3
Notarangelo, L.D.4
O'Shea, J.J.5
Blaese, R.M.6
-
69
-
-
10544250248
-
Reconstitution of T cell receptor signaling in ZAP-70-deficient cells by retroviral transduction of the ZAP-70 gene
-
Taylor N, Bacon KB, Smith S, Jahn T, Kadlecek TA, Uribe L, Kohn DB, Gelfand EW, Weiss A, Weinberg K: Reconstitution of T cell receptor signaling in ZAP-70-deficient cells by retroviral transduction of the ZAP-70 gene. J Exp Med 1996, 184:2031-2036.
-
(1996)
J Exp Med
, vol.184
, pp. 2031-2036
-
-
Taylor, N.1
Bacon, K.B.2
Smith, S.3
Jahn, T.4
Kadlecek, T.A.5
Uribe, L.6
Kohn, D.B.7
Gelfand, E.W.8
Weiss, A.9
Weinberg, K.10
|