-
1
-
-
0037328764
-
Primary immunodeficiency diseases
-
F.A. Bonilla, and R.S. Geha Primary immunodeficiency diseases J Allergy Clin Immunol 111 suppl 2003 S571 S581
-
(2003)
J Allergy Clin Immunol
, vol.111
, Issue.SUPPL.
-
-
Bonilla, F.A.1
Geha, R.S.2
-
2
-
-
21044456732
-
Practice parameter for the diagnosis and management of primary immunodeficiency
-
F.A. Bonilla, I.L. Bernstein, D.A. Khan, Z.K. Ballas, J. Chinen, and M.M. Frank Practice parameter for the diagnosis and management of primary immunodeficiency Ann Allergy Asthma Immunol 94 suppl 2005 S1 S63
-
(2005)
Ann Allergy Asthma Immunol
, vol.94
, Issue.SUPPL.
-
-
Bonilla, F.A.1
Bernstein, I.L.2
Khan, D.A.3
Ballas, Z.K.4
Chinen, J.5
Frank, M.M.6
-
3
-
-
0346969976
-
A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans
-
A. Sawada, Y. Takihara, J.Y. Kim, Y. Matsuda-Hashii, S. Tokimasa, and H. Fujisaki A congenital mutation of the novel gene LRRC8 causes agammaglobulinemia in humans J Clin Invest 112 2003 1707 1713
-
(2003)
J Clin Invest
, vol.112
, pp. 1707-1713
-
-
Sawada, A.1
Takihara, Y.2
Kim, J.Y.3
Matsuda-Hashii, Y.4
Tokimasa, S.5
Fujisaki, H.6
-
4
-
-
1842850617
-
LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins
-
K. Kubota, J.Y. Kim, A. Sawada, S. Tokimasa, H. Fujisaki, and Y. Matsuda-Hashii LRRC8 involved in B cell development belongs to a novel family of leucine-rich repeat proteins FEBS Lett 564 2004 147 152
-
(2004)
FEBS Lett
, vol.564
, pp. 147-152
-
-
Kubota, K.1
Kim, J.Y.2
Sawada, A.3
Tokimasa, S.4
Fujisaki, H.5
Matsuda-Hashii, Y.6
-
5
-
-
13144254208
-
Genetic analysis of patients with defects in early B-cell development
-
M.E. Conley, A. Broides, V. Hernandez-Trujillo, V. Howard, H. Kanegane, and T. Miyawaki Genetic analysis of patients with defects in early B-cell development Immunol Rev 203 2005 216 234
-
(2005)
Immunol Rev
, vol.203
, pp. 216-234
-
-
Conley, M.E.1
Broides, A.2
Hernandez-Trujillo, V.3
Howard, V.4
Kanegane, H.5
Miyawaki, T.6
-
6
-
-
0142092610
-
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination
-
K. Imai, G. Slupphaug, W.I. Lee, P. Revy, S. Nonoyama, and N. Catalan Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination Nat Immunol 4 2003 1023 1028
-
(2003)
Nat Immunol
, vol.4
, pp. 1023-1028
-
-
Imai, K.1
Slupphaug, G.2
Lee, W.I.3
Revy, P.4
Nonoyama, S.5
Catalan, N.6
-
7
-
-
17644403462
-
The contested role of uracil DNA glycosylase in immunoglobulin gene diversification
-
S. Longerich, and U. Storb The contested role of uracil DNA glycosylase in immunoglobulin gene diversification Trends Genet 21 2005 253 256
-
(2005)
Trends Genet
, vol.21
, pp. 253-256
-
-
Longerich, S.1
Storb, U.2
-
8
-
-
13144252181
-
Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects
-
A. Durandy, P. Revy, K. Imai, and A. Fischer Hyper-immunoglobulin M syndromes caused by intrinsic B-lymphocyte defects Immunol Rev 203 2005 67 79
-
(2005)
Immunol Rev
, vol.203
, pp. 67-79
-
-
Durandy, A.1
Revy, P.2
Imai, K.3
Fischer, A.4
-
9
-
-
13144253109
-
Hyper immunoglobulin M syndrome due to CD40 deficiency: Clinical, molecular, and immunological features
-
V. Lougaris, R. Badolato, S. Ferrari, and A. Plebani Hyper immunoglobulin M syndrome due to CD40 deficiency: clinical, molecular, and immunological features Immunol Rev 203 2005 48 66
-
(2005)
Immunol Rev
, vol.203
, pp. 48-66
-
-
Lougaris, V.1
Badolato, R.2
Ferrari, S.3
Plebani, A.4
-
10
-
-
7044224342
-
ICOS deficiency in patients with common variable immunodeficiency
-
U. Salzer, A. Maul-Pavicic, C. Cunningham-Rundles, S. Urschel, B.H. Belohradsky, and J. Litzman ICOS deficiency in patients with common variable immunodeficiency Clin Immunol 113 2004 234 240
-
(2004)
Clin Immunol
, vol.113
, pp. 234-240
-
-
Salzer, U.1
Maul-Pavicic, A.2
Cunningham-Rundles, C.3
Urschel, S.4
Belohradsky, B.H.5
Litzman, J.6
-
11
-
-
23044463627
-
TACI is mutant in common variable immunodeficiency and IgA deficiency
-
E. Castigli, S.A. Wilson, L. Garibyan, R. Rachid, F. Bonilla, and L. Schneider TACI is mutant in common variable immunodeficiency and IgA deficiency Nat Genet 37 2005 829 834
-
(2005)
Nat Genet
, vol.37
, pp. 829-834
-
-
Castigli, E.1
Wilson, S.A.2
Garibyan, L.3
Rachid, R.4
Bonilla, F.5
Schneider, L.6
-
12
-
-
23044443492
-
Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans
-
U. Salzer, H.M. Chapel, A.D. Webster, Q. Pan-Hammarstrom, A. Schmitt-Graeff, and M. Schlesier Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans Nat Genet 37 2005 820 828
-
(2005)
Nat Genet
, vol.37
, pp. 820-828
-
-
Salzer, U.1
Chapel, H.M.2
Webster, A.D.3
Pan-Hammarstrom, Q.4
Schmitt-Graeff, A.5
Schlesier, M.6
-
13
-
-
0036493366
-
Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: A new approach to classify a heterogeneous disease
-
K. Warnatz, A. Denz, R. Drager, M. Braun, C. Groth, and G. Wolff-Vorbeck Severe deficiency of switched memory B cells (CD27(+)IgM(-)IgD(-)) in subgroups of patients with common variable immunodeficiency: a new approach to classify a heterogeneous disease Blood 99 2002 1544 1551
-
(2002)
Blood
, vol.99
, pp. 1544-1551
-
-
Warnatz, K.1
Denz, A.2
Drager, R.3
Braun, M.4
Groth, C.5
Wolff-Vorbeck, G.6
-
14
-
-
0035043904
-
A case of x-linked agammaglobulinemia diagnosed in adulthood
-
D.M. Stewart, L. Tian, and D.L. Nelson A case of x-linked agammaglobulinemia diagnosed in adulthood Clin Immunol 99 2001 94 99
-
(2001)
Clin Immunol
, vol.99
, pp. 94-99
-
-
Stewart, D.M.1
Tian, L.2
Nelson, D.L.3
-
15
-
-
0034041626
-
Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry
-
H. Kanegane, S. Tsukada, T. Iwata, T. Futatani, K. Nomura, and J. Yamamoto Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry Clin Exp Immunol 120 2000 512 517
-
(2000)
Clin Exp Immunol
, vol.120
, pp. 512-517
-
-
Kanegane, H.1
Tsukada, S.2
Iwata, T.3
Futatani, T.4
Nomura, K.5
Yamamoto, J.6
-
16
-
-
0035469882
-
Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome
-
M. Morra, O. Silander, S. Calpe, M. Choi, H. Oettgen, and L. Myers Alterations of the X-linked lymphoproliferative disease gene SH2D1A in common variable immunodeficiency syndrome Blood 98 2001 1321 1325
-
(2001)
Blood
, vol.98
, pp. 1321-1325
-
-
Morra, M.1
Silander, O.2
Calpe, S.3
Choi, M.4
Oettgen, H.5
Myers, L.6
-
17
-
-
1842735263
-
IgA deficiency: Clinical correlates and responses to pneumococcal vaccine
-
E. Edwards, S. Razvi, and C. Cunningham-Rundles IgA deficiency: clinical correlates and responses to pneumococcal vaccine Clin Immunol 111 2004 93 97
-
(2004)
Clin Immunol
, vol.111
, pp. 93-97
-
-
Edwards, E.1
Razvi, S.2
Cunningham-Rundles, C.3
-
18
-
-
0142216231
-
The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease
-
M. Ehrlich The ICF syndrome, a DNA methyltransferase 3B deficiency and immunodeficiency disease Clin Immunol 109 2003 17 28
-
(2003)
Clin Immunol
, vol.109
, pp. 17-28
-
-
Ehrlich, M.1
-
19
-
-
0035687142
-
The ICF syndrome: New case and update
-
T.J. De Ravel, E. Deckers, P.L. Alliet, P. Petit, and J.P. Fryns The ICF syndrome: new case and update Genet Couns 12 2001 379 385
-
(2001)
Genet Couns
, vol.12
, pp. 379-385
-
-
De Ravel, T.J.1
Deckers, E.2
Alliet, P.L.3
Petit, P.4
Fryns, J.P.5
-
20
-
-
1242351778
-
Idiopathic CD4+ T-lymphocytopenia in a boy with Down syndrome. Report of a patient and a review of the literature
-
S. Tanaka, M. Teraguchi, M. Hasui, S. Taniuchi, Y. Ikemoto, and Y. Kobayashi Idiopathic CD4+ T-lymphocytopenia in a boy with Down syndrome. Report of a patient and a review of the literature Eur J Pediatr 163 2004 122 123
-
(2004)
Eur J Pediatr
, vol.163
, pp. 122-123
-
-
Tanaka, S.1
Teraguchi, M.2
Hasui, M.3
Taniuchi, S.4
Ikemoto, Y.5
Kobayashi, Y.6
-
21
-
-
0036931320
-
Human natural killer cell deficiencies and susceptibility to infection
-
J.S. Orange Human natural killer cell deficiencies and susceptibility to infection Microbes Infect 4 2002 1545 1558
-
(2002)
Microbes Infect
, vol.4
, pp. 1545-1558
-
-
Orange, J.S.1
-
22
-
-
0036493593
-
Analysis of natural killer cells in TAP2-deficient patients: Expression of functional triggering receptors and evidence for the existence of inhibitory receptor(s) that prevent lysis of normal autologous cells
-
M. Vitale, J. Zimmer, R. Castriconi, D. Hanau, L. Donato, and C. Bottino Analysis of natural killer cells in TAP2-deficient patients: expression of functional triggering receptors and evidence for the existence of inhibitory receptor(s) that prevent lysis of normal autologous cells Blood 99 2002 1723 1729
-
(2002)
Blood
, vol.99
, pp. 1723-1729
-
-
Vitale, M.1
Zimmer, J.2
Castriconi, R.3
Hanau, D.4
Donato, L.5
Bottino, C.6
-
23
-
-
0036259559
-
Deficient natural killer cell cytotoxicity in patients with IKK-γ/NEMO mutations
-
J.S. Orange, S.R. Brodeur, A. Jain, F.A. Bonilla, L.C. Schneider, and R. Kretschmer Deficient natural killer cell cytotoxicity in patients with IKK-γ/NEMO mutations J Clin Invest 109 2002 1501 1509
-
(2002)
J Clin Invest
, vol.109
, pp. 1501-1509
-
-
Orange, J.S.1
Brodeur, S.R.2
Jain, A.3
Bonilla, F.A.4
Schneider, L.C.5
Kretschmer, R.6
-
24
-
-
0242285603
-
Effect of CD3δ deficiency on maturation of α/β and γ/δ T-cell lineages in severe combined immunodeficiency
-
H.K. Dadi, A.J. Simon, and C.M. Roifman Effect of CD3δ deficiency on maturation of α/β and γ/δ T-cell lineages in severe combined immunodeficiency N Engl J Med 349 2003 1821 1828
-
(2003)
N Engl J Med
, vol.349
, pp. 1821-1828
-
-
Dadi, H.K.1
Simon, A.J.2
Roifman, C.M.3
-
25
-
-
0037103321
-
A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination
-
T. Yabe, S. Kawamura, M. Sato, K. Kashiwase, H. Tanaka, and Y. Ishikawa A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination Blood 100 2002 1496 1498
-
(2002)
Blood
, vol.100
, pp. 1496-1498
-
-
Yabe, T.1
Kawamura, S.2
Sato, M.3
Kashiwase, K.4
Tanaka, H.5
Ishikawa, Y.6
-
26
-
-
0035263599
-
Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice
-
E.A. Lindsay, F. Vitelli, H. Su, M. Morishima, T. Huynh, and T. Pramparo Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice Nature 410 2001 97 101
-
(2001)
Nature
, vol.410
, pp. 97-101
-
-
Lindsay, E.A.1
Vitelli, F.2
Su, H.3
Morishima, M.4
Huynh, T.5
Pramparo, T.6
-
27
-
-
10744223651
-
Role of TBX1 in human del22q11.2 syndrome
-
H. Yagi, Y. Furutani, H. Hamada, T. Sasaki, S. Asakawa, and S. Minoshima Role of TBX1 in human del22q11.2 syndrome Lancet 362 2003 1366 1373
-
(2003)
Lancet
, vol.362
, pp. 1366-1373
-
-
Yagi, H.1
Furutani, Y.2
Hamada, H.3
Sasaki, T.4
Asakawa, S.5
Minoshima, S.6
-
28
-
-
0041743085
-
Thymus transplantation in complete DiGeorge syndrome: Immunologic and safety evaluations in 12 patients
-
M.L. Markert, M. Sarzotti, D.A. Ozaki, G.D. Sempowski, M.E. Rhein, and L.P. Hale Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients Blood 102 2003 1121 1130
-
(2003)
Blood
, vol.102
, pp. 1121-1130
-
-
Markert, M.L.1
Sarzotti, M.2
Ozaki, D.A.3
Sempowski, G.D.4
Rhein, M.E.5
Hale, L.P.6
-
29
-
-
0037339072
-
Long-term assessment of T-cell populations in DiGeorge syndrome
-
J. Chinen, H.M. Rosenblatt, E.O. Smith, W.T. Shearer, and L.M. Noroski Long-term assessment of T-cell populations in DiGeorge syndrome J Allergy Clin Immunol 111 2003 573 579
-
(2003)
J Allergy Clin Immunol
, vol.111
, pp. 573-579
-
-
Chinen, J.1
Rosenblatt, H.M.2
Smith, E.O.3
Shearer, W.T.4
Noroski, L.M.5
-
30
-
-
0141940745
-
Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)
-
E.E. Perez, A. Bokszczanin, D. McDonald-McGinn, E.H. Zackai, and K.E. Sullivan Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) Pediatrics 112 2003 e325
-
(2003)
Pediatrics
, vol.112
, pp. 325
-
-
Perez, E.E.1
Bokszczanin, A.2
McDonald-Mcginn, D.3
Zackai, E.H.4
Sullivan, K.E.5
-
31
-
-
2942639783
-
Live viral vaccines in patients with partial DiGeorge syndrome: Clinical experience and cellular immunity
-
E.H. Moylett, A.N. Wasan, L.M. Noroski, and W.T. Shearer Live viral vaccines in patients with partial DiGeorge syndrome: clinical experience and cellular immunity Clin Immunol 112 2004 106 112
-
(2004)
Clin Immunol
, vol.112
, pp. 106-112
-
-
Moylett, E.H.1
Wasan, A.N.2
Noroski, L.M.3
Shearer, W.T.4
-
32
-
-
1942538141
-
Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome
-
M.L. Markert, M.J. Alexieff, J. Li, M. Sarzotti, D.A. Ozaki, and B.H. Devlin Postnatal thymus transplantation with immunosuppression as treatment for DiGeorge syndrome Blood 104 2004 2574 2581
-
(2004)
Blood
, vol.104
, pp. 2574-2581
-
-
Markert, M.L.1
Alexieff, M.J.2
Li, J.3
Sarzotti, M.4
Ozaki, D.A.5
Devlin, B.H.6
-
33
-
-
0035012989
-
Omenn's syndrome: Differential diagnosis in infants with erythroderma and immunodeficiency
-
I. Scheimberg, P.H. Hoeger, J.I. Harper, B. Lake, and M. Malone Omenn's syndrome: differential diagnosis in infants with erythroderma and immunodeficiency Pediatr Dev Pathol 4 2001 237 245
-
(2001)
Pediatr Dev Pathol
, vol.4
, pp. 237-245
-
-
Scheimberg, I.1
Hoeger, P.H.2
Harper, J.I.3
Lake, B.4
Malone, M.5
-
34
-
-
19344374008
-
Omenn syndrome due to ARTEMIS mutations
-
M. Ege, Y. Ma, B. Manfras, K. Kalwak, H. Lu, and M.R. Lieber Omenn syndrome due to ARTEMIS mutations Blood 105 2005 4179 4186
-
(2005)
Blood
, vol.105
, pp. 4179-4186
-
-
Ege, M.1
Ma, Y.2
Manfras, B.3
Kalwak, K.4
Lu, H.5
Lieber, M.R.6
-
35
-
-
13144261692
-
Human disease resulting from gene mutations that interfere with appropriate nuclear factor-κB activation
-
J.S. Orange, O. Levy, and R.S. Geha Human disease resulting from gene mutations that interfere with appropriate nuclear factor-κB activation Immunol Rev 203 2005 21 37
-
(2005)
Immunol Rev
, vol.203
, pp. 21-37
-
-
Orange, J.S.1
Levy, O.2
Geha, R.S.3
-
36
-
-
19944431742
-
Inherited disorders of human Toll-like receptor signaling: Immunological implications
-
C.L. Ku, K. Yang, J. Bustamante, A. Puel, H. von Bernuth, and O.F. Santos Inherited disorders of human Toll-like receptor signaling: immunological implications Immunol Rev 203 2005 10 20
-
(2005)
Immunol Rev
, vol.203
, pp. 10-20
-
-
Ku, C.L.1
Yang, K.2
Bustamante, J.3
Puel, A.4
Von Bernuth, H.5
Santos, O.F.6
-
37
-
-
85047693559
-
A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
-
G. Courtois, A. Smahi, J. Reichenbach, R. Doffinger, C. Cancrini, and M. Bonnet A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency J Clin Invest 112 2003 1108 1115
-
(2003)
J Clin Invest
, vol.112
, pp. 1108-1115
-
-
Courtois, G.1
Smahi, A.2
Reichenbach, J.3
Doffinger, R.4
Cancrini, C.5
Bonnet, M.6
-
38
-
-
4444279550
-
Human nuclear factor κb essential modulator mutation can result in immunodeficiency without ectodermal dysplasia
-
J.S. Orange, O. Levy, S.R. Brodeur, K. Krzewski, R.M. Roy, and J.E. Niemela Human nuclear factor κB essential modulator mutation can result in immunodeficiency without ectodermal dysplasia J Allergy Clin Immunol 114 2004 650 656
-
(2004)
J Allergy Clin Immunol
, vol.114
, pp. 650-656
-
-
Orange, J.S.1
Levy, O.2
Brodeur, S.R.3
Krzewski, K.4
Roy, R.M.5
Niemela, J.E.6
-
39
-
-
9644281000
-
Nuclear factor κb essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia
-
T. Niehues, J. Reichenbach, J. Neubert, S. Gudowius, A. Puel, and G. Horneff Nuclear factor κB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia J Allergy Clin Immunol 114 2004 1456 1462
-
(2004)
J Allergy Clin Immunol
, vol.114
, pp. 1456-1462
-
-
Niehues, T.1
Reichenbach, J.2
Neubert, J.3
Gudowius, S.4
Puel, A.5
Horneff, G.6
-
40
-
-
0037471003
-
Pyogenic bacterial infections in humans with IRAK-4 deficiency
-
C. Picard, A. Puel, M. Bonnet, C.L. Ku, J. Bustamante, and K. Yang Pyogenic bacterial infections in humans with IRAK-4 deficiency Science 299 2003 2076 2079
-
(2003)
Science
, vol.299
, pp. 2076-2079
-
-
Picard, C.1
Puel, A.2
Bonnet, M.3
Ku, C.L.4
Bustamante, J.5
Yang, K.6
-
41
-
-
0037656291
-
Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease
-
P.A. Hernandez, R.J. Gorlin, J.N. Lukens, S. Taniuchi, J. Bohinjec, and F. Francois Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease Nat Genet 34 2003 70 74
-
(2003)
Nat Genet
, vol.34
, pp. 70-74
-
-
Hernandez, P.A.1
Gorlin, R.J.2
Lukens, J.N.3
Taniuchi, S.4
Bohinjec, J.5
Francois, F.6
-
42
-
-
13144275206
-
CXCR4 mutations in WHIM syndrome: A misguided immune system?
-
G.A. Diaz CXCR4 mutations in WHIM syndrome: a misguided immune system? Immunol Rev 203 2005 235 243
-
(2005)
Immunol Rev
, vol.203
, pp. 235-243
-
-
Diaz, G.A.1
-
44
-
-
18544383460
-
Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency
-
H.J. Chun, L. Zheng, M. Ahmad, J. Wang, C.K. Speirs, and R.M. Siegel Pleiotropic defects in lymphocyte activation caused by caspase-8 mutations lead to human immunodeficiency Nature 419 2002 395 399
-
(2002)
Nature
, vol.419
, pp. 395-399
-
-
Chun, H.J.1
Zheng, L.2
Ahmad, M.3
Wang, J.4
Speirs, C.K.5
Siegel, R.M.6
-
45
-
-
0036216657
-
Kostmann syndrome and severe congenital neutropenia
-
C. Zeidler, and K. Welte Kostmann syndrome and severe congenital neutropenia Semin Hematol 39 2002 82 88
-
(2002)
Semin Hematol
, vol.39
, pp. 82-88
-
-
Zeidler, C.1
Welte, K.2
-
46
-
-
0035093787
-
Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia
-
K. Devriendt, A.S. Kim, G. Mathijs, S.G. Frints, M. Schwartz, and J.J. Van Den Oord Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia Nat Genet 27 2001 313 317
-
(2001)
Nat Genet
, vol.27
, pp. 313-317
-
-
Devriendt, K.1
Kim, A.S.2
Mathijs, G.3
Frints, S.G.4
Schwartz, M.5
Van Den Oord, J.J.6
-
47
-
-
9144261081
-
Autosomal recessive hyperimmunoglobulin e syndrome: A distinct disease entity
-
E.D. Renner, J.M. Puck, S.M. Holland, M. Schmitt, M. Weiss, and M. Frosch Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity J Pediatr 144 2004 93 99
-
(2004)
J Pediatr
, vol.144
, pp. 93-99
-
-
Renner, E.D.1
Puck, J.M.2
Holland, S.M.3
Schmitt, M.4
Weiss, M.5
Frosch, M.6
-
49
-
-
19944421384
-
Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector
-
H.B. Gaspar, K.L. Parsley, S. Howe, D. King, K.C. Gilmour, and J. Sinclair Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector Lancet 364 2004 2181 2187
-
(2004)
Lancet
, vol.364
, pp. 2181-2187
-
-
Gaspar, H.B.1
Parsley, K.L.2
Howe, S.3
King, D.4
Gilmour, K.C.5
Sinclair, J.6
-
50
-
-
0037189401
-
Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning
-
A. Aiuti, S. Slavin, M. Aker, F. Ficara, S. Deola, and A. Mortellaro Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning Science 296 2002 2410 2413
-
(2002)
Science
, vol.296
, pp. 2410-2413
-
-
Aiuti, A.1
Slavin, S.2
Aker, M.3
Ficara, F.4
Deola, S.5
Mortellaro, A.6
-
51
-
-
15044349631
-
Gene-therapy trials to restart following cancer risk review
-
E. Check Gene-therapy trials to restart following cancer risk review Nature 434 2005 127
-
(2005)
Nature
, vol.434
, pp. 127
-
-
Check, E.1
|