-
1
-
-
84900846113
-
Primary immunodeficiency diseases: An update on the classification from the international union of immunological societies expert committee for primary immunodeficiency
-
Al-Herz W, Bousfiha A, Casanova JL, et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol 2014;5:162.
-
(2014)
Front Immunol
, vol.5
, pp. 162
-
-
Al-Herz, W.1
Bousfiha, A.2
Casanova, J.L.3
-
2
-
-
84883162002
-
The cup runneth over: Lessons from the ever-expanding pool of primary immunodeficiency diseases
-
Milner JD, Holland SM. The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases. Nat Rev Immunol 2013;13:635-648.
-
(2013)
Nat Rev Immunol
, vol.13
, pp. 635-648
-
-
Milner, J.D.1
Holland, S.M.2
-
3
-
-
84921870596
-
Immunological loss-of-function due to genetic gain-of-function in humans: Autosomal dominance of the third kind
-
Boisson B, Quartier P, Casanova JL. Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind. Curr Opin Immunol 2015;32:90-105.
-
(2015)
Curr Opin Immunol
, vol.32
, pp. 90-105
-
-
Boisson, B.1
Quartier, P.2
Casanova, J.L.3
-
4
-
-
84941188229
-
Germline CARD11 mutation in a patient with severe congenital B cell lymphocytosis
-
Brohl AS, Stinson JR, Su HC, et al. Germline CARD11 mutation in a patient with severe congenital B cell lymphocytosis. J Clin Immunol 2014;35:32-46.
-
(2014)
J Clin Immunol
, vol.35
, pp. 32-46
-
-
Brohl, A.S.1
Stinson, J.R.2
Su, H.C.3
-
6
-
-
84870784256
-
Congenital B cell lymphocytosis explained by novel germline CARD11 mutations
-
Snow AL, Xiao W, Stinson JR, et al. Congenital B cell lymphocytosis explained by novel germline CARD11 mutations. J Exp Med 2012;209:2247-2261.
-
(2012)
J Exp Med
, vol.209
, pp. 2247-2261
-
-
Snow, A.L.1
Xiao, W.2
Stinson, J.R.3
-
7
-
-
61849113179
-
CARMA1-mediated NF-kB and JNK activation in lymphocytes
-
Blonska M, Lin X. CARMA1-mediated NF-kB and JNK activation in lymphocytes. Immunol Rev 2009;228:199-211.
-
(2009)
Immunol Rev
, vol.228
, pp. 199-211
-
-
Blonska, M.1
Lin, X.2
-
8
-
-
84902457455
-
T cell receptor-dependent activation of mTOR signaling in T cells is mediated by Carma1 and MALT1, but not Bcl10
-
Hamilton KS, Phong B, Corey C, et al. T cell receptor-dependent activation of mTOR signaling in T cells is mediated by Carma1 and MALT1, but not Bcl10. Sci Signal 2014;7:ra55.
-
(2014)
Sci Signal
, vol.7
, pp. ra55
-
-
Hamilton, K.S.1
Phong, B.2
Corey, C.3
-
9
-
-
78650862297
-
Antigen receptor signaling to NF-kB via CARMA1, BCL10, and MALT1
-
Thome M, Charton JE, Pelzer C, Hailfinger S. Antigen receptor signaling to NF-kB via CARMA1, BCL10, and MALT1. Cold Spring Harb Perspect Biol 2010;2:a003004.
-
(2010)
Cold Spring Harb Perspect Biol
, vol.2
, pp. a003004
-
-
Thome, M.1
Charton, J.E.2
Pelzer, C.3
Hailfinger, S.4
-
10
-
-
67650724069
-
Regulation and function of NF-kB transcription factors in the immune system
-
Vallabhapurapu S, Karin M. Regulation and function of NF-kB transcription factors in the immune system. Ann Rev Immunol 2009;27:693-733.
-
(2009)
Ann Rev Immunol
, vol.27
, pp. 693-733
-
-
Vallabhapurapu, S.1
Karin, M.2
-
11
-
-
77957075041
-
Oncogenic CARD11 mutations induce hyperactive signaling by disrupting autoinhibition by the PKC-responsive inhibitory domain
-
Lamason RL, McCully RR, Lew SM, Pomerantz JL. Oncogenic CARD11 mutations induce hyperactive signaling by disrupting autoinhibition by the PKC-responsive inhibitory domain. Biochemistry 2010;49:8240-8250.
-
(2010)
Biochemistry
, vol.49
, pp. 8240-8250
-
-
Lamason, R.L.1
McCully, R.R.2
Lew, S.M.3
Pomerantz, J.L.4
-
12
-
-
51349164412
-
The protein kinase C-responsive inhibitory domain of CARD11 functions in NF-kappaB activation to regulate the association of multiple signaling cofactors that differentially depend on Bcl10 and MALT1 for association
-
McCully RR, Pomerantz JL. The protein kinase C-responsive inhibitory domain of CARD11 functions in NF-kappaB activation to regulate the association of multiple signaling cofactors that differentially depend on Bcl10 and MALT1 for association. Molec Cell Biol 2008;28:5668-5686.
-
(2008)
Molec Cell Biol
, vol.28
, pp. 5668-5686
-
-
McCully, R.R.1
Pomerantz, J.L.2
-
13
-
-
84900526520
-
T cell receptor signals to NF-kappaB are transmitted by a cytosolic p62-Bcl10-Malt1-IKK signalosome
-
Paul S, Traver MK, Kashyap AK, et al. T cell receptor signals to NF-kappaB are transmitted by a cytosolic p62-Bcl10-Malt1-IKK signalosome. Sci Signal 2014;7:ra45.
-
(2014)
Sci Signal
, vol.7
, pp. ra45
-
-
Paul, S.1
Traver, M.K.2
Kashyap, A.K.3
-
14
-
-
84884563162
-
Structural architecture of the CARMA1/Bcl10/MALT1 signalosome: Nucleation-induced filamentous assembly
-
Qiao Q, Yang C, Zheng C, et al. Structural architecture of the CARMA1/Bcl10/MALT1 signalosome: nucleation-induced filamentous assembly. Mol Cell 2013;51:766-779.
-
(2013)
Mol Cell
, vol.51
, pp. 766-779
-
-
Qiao, Q.1
Yang, C.2
Zheng, C.3
-
15
-
-
33750344655
-
The CARMA1 signalosome links the signalling machinery of adaptive and innate immunity in lymphocytes
-
Rawlings DJ, Sommer K, Moreno-Garcia ME. The CARMA1 signalosome links the signalling machinery of adaptive and innate immunity in lymphocytes. Nat Rev Immunol 2006;6:799-812.
-
(2006)
Nat Rev Immunol
, vol.6
, pp. 799-812
-
-
Rawlings, D.J.1
Sommer, K.2
Moreno-Garcia, M.E.3
-
16
-
-
41149136296
-
Oncogenic CARD11 mutations in human diffuse large B cell lymphoma
-
Lenz G, Davis RE, Ngo VN, et al. Oncogenic CARD11 mutations in human diffuse large B cell lymphoma. Science 2008;319:1676-1679.
-
(2008)
Science
, vol.319
, pp. 1676-1679
-
-
Lenz, G.1
Davis, R.E.2
Ngo, V.N.3
-
17
-
-
84871886282
-
A quantitative signaling screen identifies CARD11 mutations in the CARD and LATCH domains that induce Bcl10 ubiquitination and human lymphoma cell survival
-
Chan W, Schaffer TB, Pomerantz JL. A quantitative signaling screen identifies CARD11 mutations in the CARD and LATCH domains that induce Bcl10 ubiquitination and human lymphoma cell survival. Molec Cellul Biol 2013;33:429-443.
-
(2013)
Molec Cellul Biol
, vol.33
, pp. 429-443
-
-
Chan, W.1
Schaffer, T.B.2
Pomerantz, J.L.3
-
18
-
-
33744989924
-
Canonical NF-kappaB activity, dispensable for B cell development, replaces BAFF-receptor signals and promotes B cell proliferation upon activation
-
Sasaki Y, Derudder E, Hobeika E, et al. Canonical NF-kappaB activity, dispensable for B cell development, replaces BAFF-receptor signals and promotes B cell proliferation upon activation. Immunity 2006;24:729-739.
-
(2006)
Immunity
, vol.24
, pp. 729-739
-
-
Sasaki, Y.1
Derudder, E.2
Hobeika, E.3
-
20
-
-
85047693559
-
A hypermorphic IkBa mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency
-
Courtois G, Smahi A, Reichenbach J, et al. A hypermorphic IkBa mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest 2003;112:1108-1115.
-
(2003)
J Clin Invest
, vol.112
, pp. 1108-1115
-
-
Courtois, G.1
Smahi, A.2
Reichenbach, J.3
-
21
-
-
4544219780
-
The same IkBa mutation in two related individuals leads to completely different clinical syndromes
-
Janssen R, Van Wengen A, Hoeve MA, et al. The same IkBa mutation in two related individuals leads to completely different clinical syndromes. J Exp Med 2004;200:559-568.
-
(2004)
J Exp Med
, vol.200
, pp. 559-568
-
-
Janssen, R.1
Van Wengen, A.2
Hoeve, M.A.3
-
22
-
-
44849115170
-
A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency
-
Lopez-Granados E, Keenan JE, Kinney MC, et al. A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiency. Hum Mutat 2008;29:861-868.
-
(2008)
Hum Mutat
, vol.29
, pp. 861-868
-
-
Lopez-Granados, E.1
Keenan, J.E.2
Kinney, M.C.3
-
23
-
-
34948908695
-
Heterozygous N-terminal deletion of IkBa results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency
-
McDonald DR, Mooster JL, Reddy M, et al. Heterozygous N-terminal deletion of IkBa results in functional nuclear factor kappaB haploinsufficiency, ectodermal dysplasia, and immune deficiency. J Allergy Clin Immunol 2007;120:900-907.
-
(2007)
J Allergy Clin Immunol
, vol.120
, pp. 900-907
-
-
McDonald, D.R.1
Mooster, J.L.2
Reddy, M.3
-
24
-
-
84880318874
-
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy
-
Schimke LF, Rieber N, Rylaarsdam S, et al. A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy. J Clin Immunol 2013;33:1088-1099.
-
(2013)
J Clin Immunol
, vol.33
, pp. 1088-1099
-
-
Schimke, L.F.1
Rieber, N.2
Rylaarsdam, S.3
-
25
-
-
84885174677
-
Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p. Ser36Tyr, presents with mild ectodermal dysplasia and noninfectious systemic inflammation
-
Yoshioka T, Nishikomori R, Hara J, et al. Autosomal dominant anhidrotic ectodermal dysplasia with immunodeficiency caused by a novel NFKBIA mutation, p. Ser36Tyr, presents with mild ectodermal dysplasia and noninfectious systemic inflammation. J Clin Immunol 2013;33:1165-1174.
-
(2013)
J Clin Immunol
, vol.33
, pp. 1165-1174
-
-
Yoshioka, T.1
Nishikomori, R.2
Hara, J.3
-
26
-
-
84864144782
-
Chronic activation of the kinase IKKb impairs T cell function and survival
-
Krishna S, Xie D, Gorentla B, et al. Chronic activation of the kinase IKKb impairs T cell function and survival. J Immunol 2012;189:1209-1219.
-
(2012)
J Immunol
, vol.189
, pp. 1209-1219
-
-
Krishna, S.1
Xie, D.2
Gorentla, B.3
-
27
-
-
84870260211
-
Human lymphoma mutations reveal CARD11 as the switch between self-antigen-induced B cell death or proliferation and autoantibody production
-
Jeelall YS, Wang JQ, Law HD, et al. Human lymphoma mutations reveal CARD11 as the switch between self-antigen-induced B cell death or proliferation and autoantibody production. J Exp Med 2012;209:1907-1917.
-
(2012)
J Exp Med
, vol.209
, pp. 1907-1917
-
-
Jeelall, Y.S.1
Wang, J.Q.2
Law, H.D.3
-
28
-
-
84921898265
-
Targeting B-cell lymphomas with inhibitors of the MALT1 paracaspase
-
Hailfinger S, Lenz G, Thome M. Targeting B-cell lymphomas with inhibitors of the MALT1 paracaspase. Curr Opin Chem Biol 2014;23:47-55.
-
(2014)
Curr Opin Chem Biol
, vol.23
, pp. 47-55
-
-
Hailfinger, S.1
Lenz, G.2
Thome, M.3
-
29
-
-
84905487884
-
The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency
-
Turvey SE, Durandy A, Fischer A, et al. The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency. J Allergy Clin Immunol 2014;134:276-284.
-
(2014)
J Allergy Clin Immunol
, vol.134
, pp. 276-284
-
-
Turvey, S.E.1
Durandy, A.2
Fischer, A.3
-
30
-
-
84887824378
-
Phosphoinositide 3-kinase delta gene mutation predisposes to respiratory infection and airway damage
-
Angulo I, Vadas O, Garcon F, et al. Phosphoinositide 3-kinase delta gene mutation predisposes to respiratory infection and airway damage. Science 2013;342:866-871.
-
(2013)
Science
, vol.342
, pp. 866-871
-
-
Angulo, I.1
Vadas, O.2
Garcon, F.3
-
31
-
-
33748885420
-
Identification of variations in the human phosphoinositide 3-kinase p110delta gene in children with primary B-cell immunodeficiency of unknown aetiology
-
Jou ST, Chien YH, Yang YH, et al. Identification of variations in the human phosphoinositide 3-kinase p110delta gene in children with primary B-cell immunodeficiency of unknown aetiology. Int J Immunogenet 2006;33:361-369.
-
(2006)
Int J Immunogenet
, vol.33
, pp. 361-369
-
-
Jou, S.T.1
Chien, Y.H.2
Yang, Y.H.3
-
32
-
-
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 CL, Kuehn HS, Zhao F, 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 2014;15:88-97.
-
(2014)
Nat Immunol
, vol.15
, pp. 88-97
-
-
Lucas, C.L.1
Kuehn, H.S.2
Zhao, F.3
-
34
-
-
13844312400
-
Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complex
-
Sarbassov DD, Guertin DA, Ali SM, Sabatini DM. Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complex. Science 2005;307:1098-1101.
-
(2005)
Science
, vol.307
, pp. 1098-1101
-
-
Sarbassov, D.D.1
Guertin, D.A.2
Ali, S.M.3
Sabatini, D.M.4
-
35
-
-
84860898727
-
FOXO3 regulates CD8 T cell memory by T cell-intrinsic mechanisms
-
Sullivan JA, Kim EH, Plisch EH, et al. FOXO3 regulates CD8 T cell memory by T cell-intrinsic mechanisms. PLoS Pathogens 2012;8:e1002533.
-
(2012)
PLoS Pathogens
, vol.8
, pp. e1002533
-
-
Sullivan, J.A.1
Kim, E.H.2
Plisch, E.H.3
-
36
-
-
84866166854
-
FOXO3 regulates the CD8 T cell response to a chronic viral infection
-
Sullivan JA, Kim EH, Plisch EH, Suresh M. FOXO3 regulates the CD8 T cell response to a chronic viral infection. J Virol 2012;86:9025-9034.
-
(2012)
J Virol
, vol.86
, pp. 9025-9034
-
-
Sullivan, J.A.1
Kim, E.H.2
Plisch, E.H.3
Suresh, M.4
-
37
-
-
0037416216
-
Critical roles of Pten in B cell homeostasis and immunoglobulin class switch recombination
-
Suzuki A, Kaisho T, Ohishi M, et al. Critical roles of Pten in B cell homeostasis and immunoglobulin class switch recombination. J Exp Med 2003;197:657-667.
-
(2003)
J Exp Med
, vol.197
, pp. 657-667
-
-
Suzuki, A.1
Kaisho, T.2
Ohishi, M.3
-
38
-
-
0034995242
-
T cell-specific loss of Pten leads to defects in central and peripheral tolerance
-
Suzuki A, Yamaguchi MT, Ohteki T, et al. T cell-specific loss of Pten leads to defects in central and peripheral tolerance. Immunity 2001;14:523-534.
-
(2001)
Immunity
, vol.14
, pp. 523-534
-
-
Suzuki, A.1
Yamaguchi, M.T.2
Ohteki, T.3
-
39
-
-
28844448182
-
Oncogenic PI3K deregulates transcription and translation
-
Bader AG, Kang S, Zhao L, Vogt PK. Oncogenic PI3K deregulates transcription and translation. Nat Rev Cancer 2005;5:921-929.
-
(2005)
Nat Rev Cancer
, vol.5
, pp. 921-929
-
-
Bader, A.G.1
Kang, S.2
Zhao, L.3
Vogt, P.K.4
-
40
-
-
73949084778
-
Regulation of Class IA PI 3-kinases: C2 domain-iSH2 domain contacts inhibit p85/p110a and are disrupted in oncogenic p85 mutants
-
Wu H, Shekar SC, Flinn RJ, et al. Regulation of Class IA PI 3-kinases: C2 domain-iSH2 domain contacts inhibit p85/p110a and are disrupted in oncogenic p85 mutants. Proc Natl Acad Sci U S A 2009;106:20258-20263.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 20258-20263
-
-
Wu, H.1
Shekar, S.C.2
Flinn, R.J.3
-
41
-
-
40649096375
-
Helical domain and kinase domain mutations in p110a of phosphatidylinositol 3-kinase induce gain of function by different mechanisms
-
Zhao L, Vogt PK. Helical domain and kinase domain mutations in p110a of phosphatidylinositol 3-kinase induce gain of function by different mechanisms. Proc Natl Acad Sci U S A 2008;105:2652-2657.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 2652-2657
-
-
Zhao, L.1
Vogt, P.K.2
-
42
-
-
84866544615
-
Oncogenic mutations mimic and enhance dynamic events in the natural activation of phosphoinositide 3-kinase p110a (PIK3CA)
-
Burke JE, Perisic O, Masson GR, et al. Oncogenic mutations mimic and enhance dynamic events in the natural activation of phosphoinositide 3-kinase p110a (PIK3CA). Proc Natl Acad Sci U S A 2012;109:15259-15264.
-
(2012)
Proc Natl Acad Sci U S A
, vol.109
, pp. 15259-15264
-
-
Burke, J.E.1
Perisic, O.2
Masson, G.R.3
-
43
-
-
70350126139
-
A frequent kinase domain mutation that changes the interaction between PI3Ka and the membrane
-
Mandelker D, Gabelli SB, Schmidt-Kittler O, et al. A frequent kinase domain mutation that changes the interaction between PI3Ka and the membrane. Proc Natl Acad Sci U S A 2009;106:16996-17001.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 16996-17001
-
-
Mandelker, D.1
Gabelli, S.B.2
Schmidt-Kittler, O.3
-
44
-
-
84865285455
-
Metabolic switching and fuel choice during Tcell differentiation and memory development
-
Van Der Windt GJ, Pearce EL. Metabolic switching and fuel choice during Tcell differentiation and memory development. Immunol Rev 2012;249:27-42.
-
(2012)
Immunol Rev
, vol.249
, pp. 27-42
-
-
Van Der Windt, G.J.1
Pearce, E.L.2
-
45
-
-
84907008346
-
A human immunodeficiency caused by mutations in the PIK3R1 gene
-
Deau MC, Heurtier L, Frange P, et al. A human immunodeficiency caused by mutations in the PIK3R1 gene. J Clin Invest 2014;124:3923-3928.
-
(2014)
J Clin Invest
, vol.124
, pp. 3923-3928
-
-
Deau, M.C.1
Heurtier, L.2
Frange, P.3
-
46
-
-
84921847830
-
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K
-
Lucas CL, Zhang Y, Venida A, et al. Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. J Exp Med 2014;211:2537-2547.
-
(2014)
J Exp Med
, vol.211
, pp. 2537-2547
-
-
Lucas, C.L.1
Zhang, Y.2
Venida, A.3
-
47
-
-
84903746318
-
Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase delta syndrome
-
Kracker S, Curtis J, Ibrahim MA, et al. Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase delta syndrome. J Allergy Clin Immunol 2014;134:233-236.
-
(2014)
J Allergy Clin Immunol
, vol.134
, pp. 233-236
-
-
Kracker, S.1
Curtis, J.2
Ibrahim, M.A.3
-
48
-
-
84860359332
-
A gamma globulinemia and absent B lineage cells in a patient lacking the p85a subunit of PI3K
-
Conley ME, Dobbs AK, Quintana AM, et al. A gamma globulinemia and absent B lineage cells in a patient lacking the p85a subunit of PI3K. J Exp Med 2012;209:463-470.
-
(2012)
J Exp Med
, vol.209
, pp. 463-470
-
-
Conley, M.E.1
Dobbs, A.K.2
Quintana, A.M.3
-
49
-
-
84876918036
-
Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency
-
Greil J, Rausch T, Giese T, et al. Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency. J Allergy Clin Immunol 2013;131:1376-1383. e3.
-
(2013)
J Allergy Clin Immunol
, vol.131
, pp. 1376-1383e3
-
-
Greil, J.1
Rausch, T.2
Giese, T.3
-
50
-
-
84873348862
-
Deficiency of caspase recruitment domain family, member 11(CARD11), causes profound combined immunodeficiency in human subjects
-
Stepensky P, Keller B, Buchta M, et al. Deficiency of caspase recruitment domain family, member 11(CARD11), causes profound combined immunodeficiency in human subjects. J Allergy Clin Immunol 2013;131:477-485; e1.
-
(2013)
J Allergy Clin Immunol
, vol.131
, pp. 477-485e1
-
-
Stepensky, P.1
Keller, B.2
Buchta, M.3
-
51
-
-
84863030888
-
Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions
-
Ombrello MJ, Remmers EF, Sun G, et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med 2012;366:330-338.
-
(2012)
N Engl J Med
, vol.366
, pp. 330-338
-
-
Ombrello, M.J.1
Remmers, E.F.2
Sun, G.3
|