-
1
-
-
27744447066
-
Molecular defects in T- and B-cell primary immunodeficiency diseases
-
Cunningham-Rundles, C. & Ponda, P. P. Molecular defects in T- and B-cell primary immunodeficiency diseases. Nat. Rev. Immunol. 5, 880-892 (2005).
-
(2005)
Nat. Rev. Immunol.
, vol.5
, pp. 880-892
-
-
Cunningham-Rundles, C.1
Ponda, P.P.2
-
2
-
-
67650744339
-
Primary B cell immunodeficiencies: Comparisons and contrasts
-
Conley, M. E. et al. Primary B cell immunodeficiencies: comparisons and contrasts. Annu. Rev. Immunol. 27, 199-227 (2009).
-
(2009)
Annu. Rev. Immunol.
, vol.27
, pp. 199-227
-
-
Conley, M.E.1
-
3
-
-
84903740988
-
Clinical picture and treatment of 2212 patients with common variable immunodeficiency
-
Gathmann, B. et al. Clinical picture and treatment of 2212 patients with common variable immunodeficiency. J. Allergy Clin. Immunol. 134, 116-126 (2014).
-
(2014)
J. Allergy Clin. Immunol.
, vol.134
, pp. 116-126
-
-
Gathmann, B.1
-
4
-
-
0026740351
-
Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency
-
Volanakis, J. E. et al. Major histocompatibility complex class III genes and susceptibility to immunoglobulin A deficiency and common variable immunodeficiency. J. Clin. Invest. 89, 1914-1922 (1992).
-
(1992)
J. Clin. Invest.
, vol.89
, pp. 1914-1922
-
-
Volanakis, J.E.1
-
5
-
-
0034108060
-
Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID)
-
Hammarstrom, L., Vorechovsky, I. & Webster, D. Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID). Clin. Exp. Immunol. 120, 225-231 (2000).
-
(2000)
Clin. Exp. Immunol.
, vol.120
, pp. 225-231
-
-
Hammarstrom, L.1
Vorechovsky, I.2
Webster, D.3
-
6
-
-
84855316198
-
Perspectives on common variable immune deficiency
-
Park, J. H., Resnick, E. S. & Cunningham-Rundles, C. Perspectives on common variable immune deficiency. Ann. N Y Acad. Sci. 1246, 41-49 (2011).
-
(2011)
Ann. N y Acad. Sci.
, vol.1246
, pp. 41-49
-
-
Park, J.H.1
Resnick, E.S.2
Cunningham-Rundles, C.3
-
7
-
-
79955654098
-
B-cell defects in common variable immunodeficiency: BCR signaling, protein clustering and hardwired gene mutations
-
van de Ven, A. A., Compeer, E. B., van Montfrans, J. M. & Boes, M. B-cell defects in common variable immunodeficiency: BCR signaling, protein clustering and hardwired gene mutations. Crit. Rev. Immunol. 31, 85-98 (2011).
-
(2011)
Crit. Rev. Immunol.
, vol.31
, pp. 85-98
-
-
Van De-Ven, A.A.1
Compeer, E.B.2
Van Montfrans, J.M.3
Boes, M.4
-
8
-
-
84862132898
-
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity
-
Lopez-Herrera, G. et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am. J. Hum. Genet. 90, 986-1001 (2012).
-
(2012)
Am. J. Hum. Genet.
, vol.90
, pp. 986-1001
-
-
Lopez-Herrera, G.1
-
9
-
-
84938070889
-
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
-
Schubert, D. et al. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat. Med. 20, 1410-1416 (2014).
-
(2014)
Nat. Med.
, vol.20
, pp. 1410-1416
-
-
Schubert, D.1
-
10
-
-
84891030577
-
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and human immunodeficiency
-
Lucas, C. L. et al. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110delta result in T cell senescence and human immunodeficiency. Nat. Immunol. 15, 88-97 (2014).
-
(2014)
Nat. Immunol.
, vol.15
, pp. 88-97
-
-
Lucas, C.L.1
-
11
-
-
0025833511
-
Abnormalities in CD4+ T lymphocyte subsets in patients with common variable immunodeficiency
-
Lebranchu, Y., Thibault, G., Degenne, D. & Bardos, P. Abnormalities in CD4+ T lymphocyte subsets in patients with common variable immunodeficiency. Clin. Immunol. Immunopathol. 61, 83-92 (1991).
-
(1991)
Clin. Immunol. Immunopathol.
, vol.61
, pp. 83-92
-
-
Lebranchu, Y.1
Thibault, G.2
Degenne, D.3
Bardos, P.4
-
12
-
-
0021881459
-
Defective low-density cells of dendritic morphology from the blood of patients with common variable hypogammaglobulinaemia: Low immunoglobulin production on stimulation of normal B cells
-
Farrant, J. et al. Defective low-density cells of dendritic morphology from the blood of patients with common variable hypogammaglobulinaemia: low immunoglobulin production on stimulation of normal B cells. Clin. Exp. Immunol. 61, 189-194 (1985).
-
(1985)
Clin. Exp. Immunol.
, vol.61
, pp. 189-194
-
-
Farrant, J.1
-
13
-
-
0022641919
-
Phenotypically immature IgG-bearing B cells in patients with hypogammaglobulinemia
-
Fiorilli, M. et al. Phenotypically immature IgG-bearing B cells in patients with hypogammaglobulinemia. J. Clin. Immunol. 6, 21-25 (1986).
-
(1986)
J. Clin. Immunol.
, vol.6
, pp. 21-25
-
-
Fiorilli, M.1
-
14
-
-
0042332029
-
Common variable immunodeficiency patient classification based on impaired B cell memory differentiation correlates with clinical aspects
-
Piqueras, B. et al. Common variable immunodeficiency patient classification based on impaired B cell memory differentiation correlates with clinical aspects. J. Clin. Immunol. 23, 385-400 (2003).
-
(2003)
J. Clin. Immunol.
, vol.23
, pp. 385-400
-
-
Piqueras, B.1
-
15
-
-
38049105639
-
The EUROclass trial: Defining subgroups in common variable immunodeficiency
-
Wehr, C. et al. The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood 111, 77-85 (2008).
-
(2008)
Blood
, vol.111
, pp. 77-85
-
-
Wehr, C.1
-
16
-
-
77956902023
-
Comprehensive methylome map of lineage commitment from haematopoietic progenitors
-
Ji, H. et al. Comprehensive methylome map of lineage commitment from haematopoietic progenitors. Nature 467, 338-342 (2010).
-
(2010)
Nature
, vol.467
, pp. 338-342
-
-
Ji, H.1
-
17
-
-
79959872458
-
Cell type-specific DNA methylation at intragenic CpG islands in the immune system
-
Deaton, A. M. et al. Cell type-specific DNA methylation at intragenic CpG islands in the immune system. Genome Res. 21, 1074-1086 (2011).
-
(2011)
Genome Res.
, vol.21
, pp. 1074-1086
-
-
Deaton, A.M.1
-
18
-
-
70649095120
-
Differential methylation of tissue- and cancer-specific CpG island shores distinguishes human induced pluripotent stem cells, embryonic stem cells and fibroblasts
-
Doi, A. et al. Differential methylation of tissue- and cancer-specific CpG island shores distinguishes human induced pluripotent stem cells, embryonic stem cells and fibroblasts. Nat. Genet. 41, 1350-1353 (2009).
-
(2009)
Nat. Genet.
, vol.41
, pp. 1350-1353
-
-
Doi, A.1
-
20
-
-
0028315867
-
Role of DNA methylation in the regulation of transcription
-
Eden, S. & Cedar, H. Role of DNA methylation in the regulation of transcription. Curr. Opin. Genet. Dev. 4, 255-259 (1994).
-
(1994)
Curr. Opin. Genet. Dev.
, vol.4
, pp. 255-259
-
-
Eden, S.1
Cedar, H.2
-
21
-
-
84871197314
-
A global DNA methylation and gene expression analysis of early human B-cell development reveals a demethylation signature and transcription factor network
-
Lee, S. T. et al. A global DNA methylation and gene expression analysis of early human B-cell development reveals a demethylation signature and transcription factor network. Nucleic Acids Res. 40, 11339-11351 (2012).
-
(2012)
Nucleic Acids Res.
, vol.40
, pp. 11339-11351
-
-
Lee, S.T.1
-
22
-
-
84890450749
-
DNA methylation profiling in human B cells reveals immune regulatory elements and epigenetic plasticity at Alu elements during B-cell activation
-
Lai, A. Y. et al. DNA methylation profiling in human B cells reveals immune regulatory elements and epigenetic plasticity at Alu elements during B-cell activation. Genome Res. 23, 2030-2041 (2013).
-
(2013)
Genome Res.
, vol.23
, pp. 2030-2041
-
-
Lai, A.Y.1
-
23
-
-
75649151209
-
Changes in the pattern of DNA methylation associate with twin discordance in systemic lupus erythematosus
-
Javierre, B. M. et al. Changes in the pattern of DNA methylation associate with twin discordance in systemic lupus erythematosus. Genome Res. 20, 170-179 (2010).
-
(2010)
Genome Res.
, vol.20
, pp. 170-179
-
-
Javierre, B.M.1
-
24
-
-
84857483409
-
DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: Identification of epigenetically dysregulated genes
-
Gervin, K. et al. DNA methylation and gene expression changes in monozygotic twins discordant for psoriasis: identification of epigenetically dysregulated genes. PLoS Genet. 8, e1002454 (2012).
-
(2012)
PLoS Genet.
, vol.8
, pp. e1002454
-
-
Gervin, K.1
-
25
-
-
80053457972
-
Identification of type 1 diabetes-associated DNA methylation variable positions that precede disease diagnosis
-
Rakyan, V. K. et al. Identification of type 1 diabetes-associated DNA methylation variable positions that precede disease diagnosis. PLoS Genet. 7, e1002300 (2011).
-
(2011)
PLoS Genet.
, vol.7
, pp. e1002300
-
-
Rakyan, V.K.1
-
26
-
-
76349098519
-
Phosphoinositide 3-kinase p110 delta regulates natural antibody production, marginal zone and B-1 B cell function, and autoantibody responses
-
Durand, C. A. et al. Phosphoinositide 3-kinase p110 delta regulates natural antibody production, marginal zone and B-1 B cell function, and autoantibody responses. J. Immunol. 183, 5673-5684 (2009).
-
(2009)
J. Immunol.
, vol.183
, pp. 5673-5684
-
-
Durand, C.A.1
-
27
-
-
3142775617
-
K+ channel expression during B cell differentiation: Implications for immunomodulation and autoimmunity
-
Wulff, H., Knaus, H. G., Pennington, M. & Chandy, K. G. K+ channel expression during B cell differentiation: implications for immunomodulation and autoimmunity. J. Immunol. 173, 776-786 (2004).
-
(2004)
J. Immunol.
, vol.173
, pp. 776-786
-
-
Wulff, H.1
Knaus, H.G.2
Pennington, M.3
Chandy, K.G.4
-
28
-
-
0029819465
-
Bcl-x rather than Bcl-2 mediates CD40-dependent centrocyte survival in the germinal center
-
Tuscano, J. M. et al. Bcl-x rather than Bcl-2 mediates CD40-dependent centrocyte survival in the germinal center. Blood 88, 1359-1364 (1996).
-
(1996)
Blood
, vol.88
, pp. 1359-1364
-
-
Tuscano, J.M.1
-
29
-
-
69449083224
-
Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells
-
Rakhmanov, M. et al. Circulating CD21low B cells in common variable immunodeficiency resemble tissue homing, innate-like B cells. Proc. Natl Acad. Sci. USA 106, 13451-13456 (2009).
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, pp. 13451-13456
-
-
Rakhmanov, M.1
-
30
-
-
84872839742
-
Genomic modulators of the immune response
-
Knight, J. C. Genomic modulators of the immune response. Trends Genet. 29, 74-83 (2013).
-
(2013)
Trends Genet.
, vol.29
, pp. 74-83
-
-
Knight, J.C.1
-
31
-
-
84555173651
-
Molecular programming of B cell memory
-
McHeyzer-Williams, M., Okitsu, S., Wang, N. & McHeyzer-Williams, L. Molecular programming of B cell memory. Nat. Rev. Immunol. 12, 24-34 (2011).
-
(2011)
Nat. Rev. Immunol.
, vol.12
, pp. 24-34
-
-
McHeyzer-Williams, M.1
Okitsu, S.2
Wang, N.3
McHeyzer-Williams, L.4
-
32
-
-
33646347921
-
An antibody-deficiency syndrome due to mutations in the CD19 gene
-
van Zelm, M. C. et al. An antibody-deficiency syndrome due to mutations in the CD19 gene. N. Engl. J. Med. 354, 1901-1912 (2006).
-
(2006)
N. Engl. J. Med.
, vol.354
, pp. 1901-1912
-
-
Van Zelm, M.C.1
-
33
-
-
84857802310
-
Genetic CD21 deficiency is associated with hypogammaglobulinemia
-
e6
-
Thiel, J. et al. Genetic CD21 deficiency is associated with hypogammaglobulinemia. J. Allergy Clin. Immunol. 129, 801-810 e6 (2012).
-
(2012)
J. Allergy Clin. Immunol.
, vol.129
, pp. 801-810
-
-
Thiel, J.1
-
34
-
-
77951146803
-
CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency
-
van Zelm, M. C. et al. CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. J. Clin. Invest. 120, 1265-1274 (2010).
-
(2010)
J. Clin. Invest.
, vol.120
, pp. 1265-1274
-
-
Van Zelm, M.C.1
-
35
-
-
74949085764
-
CD20 deficiency in humans results in impaired T cell-independent antibody responses
-
Kuijpers, T. W. et al. CD20 deficiency in humans results in impaired T cell-independent antibody responses. J. Clin. Invest. 120, 214-222 (2010).
-
(2010)
J. Clin. Invest.
, vol.120
, pp. 214-222
-
-
Kuijpers, T.W.1
-
36
-
-
84887824378
-
Phosphoinositide 3-kinase delta gene mutation predisposes to respiratory infection and airway damage
-
Angulo, I. et al. Phosphoinositide 3-kinase delta gene mutation predisposes to respiratory infection and airway damage. Science 342, 866-871 (2013).
-
(2013)
Science
, vol.342
, pp. 866-871
-
-
Angulo, I.1
-
37
-
-
84879167716
-
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C delta
-
Salzer, E. et al. B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C delta. Blood 121, 3112-3116 (2013).
-
(2013)
Blood
, vol.121
, pp. 3112-3116
-
-
Salzer, E.1
-
38
-
-
0017331368
-
Lymphocyte purine 5'-nucleotidase edficiency in primary hypogammaglobulinaemia
-
Johnson, S. M. et al. Lymphocyte purine 5'-nucleotidase edficiency in primary hypogammaglobulinaemia. Lancet 1, 168-170 (1977).
-
(1977)
Lancet
, vol.1
, pp. 168-170
-
-
Johnson, S.M.1
-
39
-
-
0018088317
-
Lymphocyte ecto-5'-nucleotidase deficiency in agammaglobulinemia
-
Edwards, N. L., Magilavy, D. B., Cassidy, J. T. & Fox, I. H. Lymphocyte ecto-5'-nucleotidase deficiency in agammaglobulinemia. Science 201, 628-630 (1978).
-
(1978)
Science
, vol.201
, pp. 628-630
-
-
Edwards, N.L.1
Magilavy, D.B.2
Cassidy, J.T.3
Fox, I.H.4
-
40
-
-
84879800119
-
Dependence of immunoglobulin class switch recombination in B cells on vesicular release of ATP and CD73 ectonucleotidase activity
-
Schena, F. et al. Dependence of immunoglobulin class switch recombination in B cells on vesicular release of ATP and CD73 ectonucleotidase activity. Cell Rep. 3, 1824-1831 (2013).
-
(2013)
Cell Rep.
, vol.3
, pp. 1824-1831
-
-
Schena, F.1
-
41
-
-
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
-
Warnatz, K. et al. 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, 1544-1551 (2002).
-
(2002)
Blood
, vol.99
, pp. 1544-1551
-
-
Warnatz, K.1
-
42
-
-
23044514669
-
Epigenetic differences arise during the lifetime of monozygotic twins
-
Fraga, M. F. et al. Epigenetic differences arise during the lifetime of monozygotic twins. Proc. Natl Acad. Sci. USA 102, 10604-10609 (2005).
-
(2005)
Proc. Natl Acad. Sci. USA
, vol.102
, pp. 10604-10609
-
-
Fraga, M.F.1
-
43
-
-
59249107052
-
DNA methylation profiles in monozygotic and dizygotic twins
-
Kaminsky, Z. A. et al. DNA methylation profiles in monozygotic and dizygotic twins. Nat. Genet. 41, 240-245 (2009).
-
(2009)
Nat. Genet.
, vol.41
, pp. 240-245
-
-
Kaminsky, Z.A.1
-
44
-
-
84875737335
-
An evaluation of analysis pipelines for DNA methylation profiling using the Illumina Human Methylation450 Bead Chip platform
-
Marabita, F. et al. An evaluation of analysis pipelines for DNA methylation profiling using the Illumina Human Methylation450 Bead Chip platform. Epigenetics 8, 333-346 (2013).
-
(2013)
Epigenetics
, vol.8
, pp. 333-346
-
-
Marabita, F.1
-
45
-
-
78649475003
-
Comparison of beta-value and M-value methods for quantifying methylation levels by microarray analysis
-
Du, P. et al. Comparison of Beta-value and M-value methods for quantifying methylation levels by microarray analysis. BMC Bioinformatics 11, 587 (2010).
-
(2010)
BMC Bioinformatics
, vol.11
, pp. 587
-
-
Du, P.1
-
46
-
-
58349111875
-
AmiGO: Online access to ontology and annotation data
-
Carbon, S. et al. AmiGO: online access to ontology and annotation data. Bioinformatics 25, 288-289 (2009).
-
(2009)
Bioinformatics
, vol.25
, pp. 288-289
-
-
Carbon, S.1
|