-
1
-
-
67349201416
-
Common variable immunodeficiency disorders in children: Delayed diagnosis despite typical clinical presentation
-
S. Urschel, L. Kayikci, and U. Wintergerst et al. Common variable immunodeficiency disorders in children: delayed diagnosis despite typical clinical presentation J Pediatr 154 2009 888 894
-
(2009)
J Pediatr
, vol.154
, pp. 888-894
-
-
Urschel, S.1
Kayikci, L.2
Wintergerst, U.3
-
2
-
-
0035940417
-
Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM
-
S. Ferrari, S. Giliani, and A. Insalaco et al. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM Proc Natl Acad Sci U S A 98 2001 12614 12619
-
(2001)
Proc Natl Acad Sci U S A
, vol.98
, pp. 12614-12619
-
-
Ferrari, S.1
Giliani, S.2
Insalaco, A.3
-
3
-
-
43049147049
-
Poorly differentiated gastroenteropancreatic neuroendocrine carcinoma associated with X-linked hyperimmunoglobulin M syndrome
-
R.K. Malhotra, and W. Li Poorly differentiated gastroenteropancreatic neuroendocrine carcinoma associated with X-linked hyperimmunoglobulin M syndrome Arch Pathol Lab Med 132 2008 847 850
-
(2008)
Arch Pathol Lab Med
, vol.132
, pp. 847-850
-
-
Malhotra, R.K.1
Li, W.2
-
5
-
-
52449114574
-
Ataxia-telangiectasia: From a rare disorder to a paradigm for cell signalling and cancer
-
M.F. Lavin Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer Nat Rev Mol Cell Biol 9 2008 759 769
-
(2008)
Nat Rev Mol Cell Biol
, vol.9
, pp. 759-769
-
-
Lavin, M.F.1
-
8
-
-
0038748216
-
Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome
-
L. Distel, S. Neubauer, R. Varon, W. Holter, and G. Grabenbauer Fatal toxicity following radio- and chemotherapy of medulloblastoma in a child with unrecognized Nijmegen breakage syndrome Med Pediatr Oncol 41 2003 44 48
-
(2003)
Med Pediatr Oncol
, vol.41
, pp. 44-48
-
-
Distel, L.1
Neubauer, S.2
Varon, R.3
Holter, W.4
Grabenbauer, G.5
-
9
-
-
84891740732
-
-
Anonymous. National Center for Biotechnology Information. OMIM: Online Mendelian Inheritance in Man. Available at:. Accessed August 24, 2011
-
Anonymous. National Center for Biotechnology Information. OMIM: Online Mendelian Inheritance in Man. Available at: http://www.ncbi.nlm.nih.gov/omim? term=hypogammaglobulinemia. Accessed August 24, 2011.
-
-
-
-
10
-
-
33646347921
-
An antibody-deficiency syndrome due to mutations in the CD19 gene
-
M.C. van Zelm, I. Reisli, and M. van der Burg et al. An antibody-deficiency syndrome due to mutations in the CD19 gene N Engl J Med 354 2006 1901 1912
-
(2006)
N Engl J Med
, vol.354
, pp. 1901-1912
-
-
Van Zelm, M.C.1
Reisli, I.2
Van Der Burg, M.3
-
11
-
-
77951146803
-
CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency
-
M.C. van Zelm, J. Smet, and B. Adams et al. CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency J Clin Invest 120 2010 1265 1274
-
(2010)
J Clin Invest
, vol.120
, pp. 1265-1274
-
-
Van Zelm, M.C.1
Smet, J.2
Adams, B.3
-
12
-
-
0037340349
-
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency
-
B. Grimbacher, A. Hutloff, and M. Schlesier et al. Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency Nat Immunol 4 2003 261 268
-
(2003)
Nat Immunol
, vol.4
, pp. 261-268
-
-
Grimbacher, B.1
Hutloff, A.2
Schlesier, M.3
-
13
-
-
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
-
14
-
-
85047693559
-
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
-
G. Courtois, A. Smahi, and J. Reichenbach et al. A hypermorphic IkappaBalpha 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
-
15
-
-
0034264851
-
Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2)
-
P. Revy, T. Muto, and Y. Levy et al. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the hyper-IgM syndrome (HIGM2) Cell 102 2000 565 575
-
(2000)
Cell
, vol.102
, pp. 565-575
-
-
Revy, P.1
Muto, T.2
Levy, Y.3
-
16
-
-
66749141144
-
Ataxia-telangiectasia patients presenting with hyper-IgM syndrome
-
J.G. Noordzij, N.M. Wulffraat, and A. Haraldsson et al. Ataxia-telangiectasia patients presenting with hyper-IgM syndrome Arch Dis Child 94 2009 448 449
-
(2009)
Arch Dis Child
, vol.94
, pp. 448-449
-
-
Noordzij, J.G.1
Wulffraat, N.M.2
Haraldsson, A.3
-
17
-
-
57149138835
-
Is it necessary to identify molecular defects in primary immunodeficiency disease?
-
L.D. Notarangelo, and R. Sorensen Is it necessary to identify molecular defects in primary immunodeficiency disease? J Allergy Clin Immunol 122 2008 1069 1073
-
(2008)
J Allergy Clin Immunol
, vol.122
, pp. 1069-1073
-
-
Notarangelo, L.D.1
Sorensen, R.2
-
18
-
-
38049105639
-
The EUROclass trial: Defining subgroups in common variable immunodeficiency
-
C. Wehr, T. Kivioja, and C. Schmitt et al. The EUROclass trial: defining subgroups in common variable immunodeficiency Blood 111 2008 77 85
-
(2008)
Blood
, vol.111
, pp. 77-85
-
-
Wehr, C.1
Kivioja, T.2
Schmitt, C.3
-
19
-
-
77957606817
-
B-cell and T-cell phenotypes in CVID patients correlate with the clinical phenotype of the disease
-
G. Mouillot, M. Carmagnat, and L. Gérard et al. B-cell and T-cell phenotypes in CVID patients correlate with the clinical phenotype of the disease J Clin Immunol 30 2010 746 755
-
(2010)
J Clin Immunol
, vol.30
, pp. 746-755
-
-
Mouillot, G.1
Carmagnat, M.2
Gérard, L.3
-
20
-
-
77951741939
-
B lymphocyte subsets and their functional activity in the early months of life
-
M.A. Avanzini, R. Maccario, and C. Belloni et al. B lymphocyte subsets and their functional activity in the early months of life Int J Immunopathol Pharmacol 23 2010 247 254
-
(2010)
Int J Immunopathol Pharmacol
, vol.23
, pp. 247-254
-
-
Avanzini, M.A.1
Maccario, R.2
Belloni, C.3
-
21
-
-
63249093575
-
Memory B-cells in healthy and antibody-deficient children
-
K. Huck, O. Feyen, and S. Ghosh et al. Memory B-cells in healthy and antibody-deficient children Clin Immunol 131 2009 50 59
-
(2009)
Clin Immunol
, vol.131
, pp. 50-59
-
-
Huck, K.1
Feyen, O.2
Ghosh, S.3
-
22
-
-
74049153738
-
Successful treatment of autoimmune and lymphoproliferative complications of patients with intrinsic B-cell immunodeficiencies with rituximab
-
C. Hennig, U. Baumann, and C. Ilginus et al. Successful treatment of autoimmune and lymphoproliferative complications of patients with intrinsic B-cell immunodeficiencies with rituximab Br J Haematol 148 2010 445 448
-
(2010)
Br J Haematol
, vol.148
, pp. 445-448
-
-
Hennig, C.1
Baumann, U.2
Ilginus, C.3
-
23
-
-
73949090666
-
Inducible costimulator promotes helper T-cell differentiation through phosphoinositide 3-kinase
-
M. Gigoux, J. Shang, and Y. Pak et al. Inducible costimulator promotes helper T-cell differentiation through phosphoinositide 3-kinase Proc Natl Acad Sci U S A 106 2009 20371 20376
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 20371-20376
-
-
Gigoux, M.1
Shang, J.2
Pak, Y.3
-
24
-
-
79952537320
-
Tuning of CD40-CD154 interactions in human B-lymphocyte activation: A broad array of in vitro models for a complex in vivo situation
-
S. Néron, P.J. Nadeau, A. Darveau, and J.-F. Leblanc Tuning of CD40-CD154 interactions in human B-lymphocyte activation: a broad array of in vitro models for a complex in vivo situation Arch Immunol Ther Exp (Warsz) 59 2011 25 40
-
(2011)
Arch Immunol Ther Exp (Warsz)
, vol.59
, pp. 25-40
-
-
Néron, S.1
Nadeau, P.J.2
Darveau, A.3
Leblanc, J.-F.4
-
25
-
-
77249109584
-
Interleukin-21 restores immunoglobulin production ex vivo in patients with common variable immunodeficiency and selective IgA deficiency
-
S. Borte, Q. Pan-Hammarström, and C. Liu et al. Interleukin-21 restores immunoglobulin production ex vivo in patients with common variable immunodeficiency and selective IgA deficiency Blood 114 2009 4089 4098
-
(2009)
Blood
, vol.114
, pp. 4089-4098
-
-
Borte, S.1
Pan-Hammarström, Q.2
Liu, C.3
-
26
-
-
67149119008
-
The European internet-based patient and research database for primary immunodeficiencies: Results 2006-2008
-
B. Gathmann, B. Grimbacher, and J. Beauté et al. The European internet-based patient and research database for primary immunodeficiencies: results 2006-2008 Clin Exp Immunol 157 Suppl 1 2009 3 11
-
(2009)
Clin Exp Immunol
, vol.157
, Issue.SUPPL. 1
, pp. 3-11
-
-
Gathmann, B.1
Grimbacher, B.2
Beauté, J.3
-
27
-
-
65549121774
-
A versatile platform for comprehensive chip-based explorative cytometry
-
C. Hennig, N. Adams, and G. Hansen A versatile platform for comprehensive chip-based explorative cytometry Cytometry A 75 2009 362 370
-
(2009)
Cytometry A
, vol.75
, pp. 362-370
-
-
Hennig, C.1
Adams, N.2
Hansen, G.3
-
28
-
-
11244346557
-
Variance stabilization applied to microarray data calibration and to the quantification of differential expression
-
W. Huber, A. von Heydebreck, H. Sültmann, A. Poustka, and M. Vingron Variance stabilization applied to microarray data calibration and to the quantification of differential expression Bioinformatics 18 Suppl 1 2002 S96 S104
-
(2002)
Bioinformatics
, vol.18
, Issue.SUPPL. 1
-
-
Huber, W.1
Von Heydebreck, A.2
Sültmann, H.3
Poustka, A.4
Vingron, M.5
-
29
-
-
77958590561
-
Ontology-based meta-analysis of global collections of high-throughput public data
-
I. Kupershmidt, Q.J. Su, and A. Grewal et al. Ontology-based meta-analysis of global collections of high-throughput public data PLoS One 2010 5
-
(2010)
PLoS One
, pp. 5
-
-
Kupershmidt, I.1
Su, Q.J.2
Grewal, A.3
-
30
-
-
33750839981
-
Stages of germinal center transit are defined by B cell transcription factor coexpression and relative abundance
-
G. Cattoretti, R. Shaknovich, and P.M. Smith et al. Stages of germinal center transit are defined by B cell transcription factor coexpression and relative abundance J Immunol 177 2006 6930 6939
-
(2006)
J Immunol
, vol.177
, pp. 6930-6939
-
-
Cattoretti, G.1
Shaknovich, R.2
Smith, P.M.3
-
31
-
-
33646596305
-
Nuclear and cytoplasmic AID in extrafollicular and germinal center B cells
-
G. Cattoretti, M. Büttner, and R. Shaknovich et al. Nuclear and cytoplasmic AID in extrafollicular and germinal center B cells Blood 107 2006 3967 3975
-
(2006)
Blood
, vol.107
, pp. 3967-3975
-
-
Cattoretti, G.1
Büttner, M.2
Shaknovich, R.3
-
32
-
-
0038639600
-
CpG directly induces T-bet expression and inhibits IgG1 and IgE switching in B cells
-
N. Liu, N. Ohnishi, L. Ni, S. Akira, and K.B. Bacon CpG directly induces T-bet expression and inhibits IgG1 and IgE switching in B cells Nat Immunol 4 2003 687 693
-
(2003)
Nat Immunol
, vol.4
, pp. 687-693
-
-
Liu, N.1
Ohnishi, N.2
Ni, L.3
Akira, S.4
Bacon, K.B.5
-
33
-
-
4644241216
-
CpG DNA induces IgG class switch DNA recombination by activating human B cells through an innate pathway that requires TLR9 and cooperates with IL-10
-
B. He, X. Qiao, and A. Cerutti CpG DNA induces IgG class switch DNA recombination by activating human B cells through an innate pathway that requires TLR9 and cooperates with IL-10 J Immunol 173 2004 4479 4491
-
(2004)
J Immunol
, vol.173
, pp. 4479-4491
-
-
He, B.1
Qiao, X.2
Cerutti, A.3
-
34
-
-
0029934449
-
Inability to produce IL-6 is a functional feature of human germinal center B lymphocytes
-
N. Burdin, L. Galibert, and P. Garrone et al. Inability to produce IL-6 is a functional feature of human germinal center B lymphocytes J Immunol 156 1996 4107 4113
-
(1996)
J Immunol
, vol.156
, pp. 4107-4113
-
-
Burdin, N.1
Galibert, L.2
Garrone, P.3
-
35
-
-
58649094649
-
Abundant expression of CXCL9 (MIG) by stromal cells that include dendritic cells and accumulation of CXCR3+ T cells in lymphocyte-rich gastric carcinoma
-
H. Ohtani, Z. Jin, and S. Takegawa et al. Abundant expression of CXCL9 (MIG) by stromal cells that include dendritic cells and accumulation of CXCR3+ T cells in lymphocyte-rich gastric carcinoma J Pathol 217 2009 21 31
-
(2009)
J Pathol
, vol.217
, pp. 21-31
-
-
Ohtani, H.1
Jin, Z.2
Takegawa, S.3
-
36
-
-
3142702136
-
CpG oligodeoxynucleotides directly induce CXCR3 chemokines in human B cells
-
A. Kato, T. Ogasawara, and T. Homma et al. CpG oligodeoxynucleotides directly induce CXCR3 chemokines in human B cells Biochem Biophys Res Commun 320 2004 1139 1147
-
(2004)
Biochem Biophys Res Commun
, vol.320
, pp. 1139-1147
-
-
Kato, A.1
Ogasawara, T.2
Homma, T.3
-
37
-
-
9744220428
-
A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci
-
E. Riballo, M. Kühne, and N. Rief et al. A pathway of double-strand break rejoining dependent upon ATM, Artemis, and proteins locating to gamma-H2AX foci Mol Cell 16 2004 715 724
-
(2004)
Mol Cell
, vol.16
, pp. 715-724
-
-
Riballo, E.1
Kühne, M.2
Rief, N.3
-
38
-
-
77955847245
-
Multiple roles of ATM in monitoring and maintaining DNA integrity
-
F.A. Derheimer, and M.B. Kastan Multiple roles of ATM in monitoring and maintaining DNA integrity FEBS Lett 584 2010 3675 3681
-
(2010)
FEBS Lett
, vol.584
, pp. 3675-3681
-
-
Derheimer, F.A.1
Kastan, M.B.2
|