-
1
-
-
0347505003
-
CD28-mediated co-stimulation: a quantitative support for TCR signalling
-
Acuto, O., and F. Michel. 2003. CD28-mediated co-stimulation: a quantitative support for TCR signalling. Nat. Rev. Immunol. 3:939-951. http://dx.doi.org/10.1038/nri1248.
-
(2003)
Nat. Rev. Immunol
, vol.3
, pp. 939-951
-
-
Acuto, O.1
Michel, F.2
-
2
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei, I.A., S. Schmidt, L. Peshkin, V.E. Ramensky, A. Gerasimova, P. Bork, A.S. Kondrashov, and S.R. Sunyaev. 2010. A method and server for predicting damaging missense mutations. Nat. Methods. 7:248-249. http://dx.doi.org/10.1038/nmeth0410-248.
-
(2010)
Nat. Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
3
-
-
84941188919
-
Novel mutations in TNF RSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency
-
Alkhairy, O.K., R. Perez-Becker, G.J. Driessen, H. Abolhassani, J. van Montfrans, S. Borte, S. Choo, N. Wang, K. Tesselaar, M. Fang, et al. 2015. Novel mutations in TNF RSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency. J. Allergy Clin. Immunol. 136:703-712.e10. http://dx.doi.org/10.1016/j.jaci.2015.02.022.
-
(2015)
J. Allergy Clin. Immunol
, vol.136
, pp. 703-712
-
-
Alkhairy, O.K.1
Perez-Becker, R.2
Driessen, G.J.3
Abolhassani, H.4
van Montfrans, J.5
Borte, S.6
Choo, S.7
Wang, N.8
Tesselaar, K.9
Fang, M.10
-
4
-
-
84958178316
-
Spectrum of phenotypes associated with mutations in LRBA
-
Alkhairy, O.K., H. Abolhassani, N. Rezaei, M. Fang, K.K. Andersen, Z. Chavoshzadeh, I. Mohammadzadeh, M.A. El-Rajab, M. Massaad, J. Chou, et al. 2016. Spectrum of phenotypes associated with mutations in LRBA. J. Clin. Immunol. 36:33-45. http://dx.doi.org/10.1007/s10875-015-0224-7.
-
(2016)
J. Clin. Immunol
, vol.36
, pp. 33-45
-
-
Alkhairy, O.K.1
Abolhassani, H.2
Rezaei, N.3
Fang, M.4
Andersen, K.K.5
Chavoshzadeh, Z.6
Mohammadzadeh, I.7
El-Rajab, M.A.8
Massaad, M.9
Chou, J.10
-
5
-
-
79955634071
-
Decreased T-cell receptor signaling through Card11 differentially compromises forkhead box protein 3-positive regulatory versus TH2. effector cells to cause allergy
-
Altin, J.A., L. Tian, A. Liston, E.M. Bertram, C.C. Goodnow, and M.C. Cook. 2011. Decreased T-cell receptor signaling through Card11 differentially compromises forkhead box protein 3-positive regulatory versus TH2. effector cells to cause allergy. J. Allergy Clin. Immunol. 127:1277-1285.e5. http://dx.doi.org/10.1016/j.jaci.2010.12.1081.
-
(2011)
J. Allergy Clin. Immunol
, vol.127
, pp. 1277-1285
-
-
Altin, J.A.1
Tian, L.2
Liston, A.3
Bertram, E.M.4
Goodnow, C.C.5
Cook, M.C.6
-
6
-
-
84925543370
-
DOCK8 deficiency: clinical and immunological phenotype and treatment options-a review of 136. patients
-
Aydin, S.E., S.S. Kilic, C. Aytekin, A. Kumar, O. Porras, L. Kainulainen, L. Kostyuchenko, F. Genel, N. Kütükcüler, N. Karaca, et al. Inborn errors working party of EBMT. 2015. DOCK8 deficiency: clinical and immunological phenotype and treatment options-a review of 136. patients. J. Clin. Immunol. 35:189-198. http://dx.doi.org/10.1007/s10875-014-0126-0.
-
(2015)
J. Clin. Immunol
, vol.35
, pp. 189-198
-
-
Aydin, S.E.1
Kilic, S.S.2
Aytekin, C.3
Kumar, A.4
Porras, O.5
Kainulainen, L.6
Kostyuchenko, L.7
Genel, F.8
Kütükcüler, N.9
Karaca, N.10
-
7
-
-
0027252136
-
CD28-T lymphocytes: Antigenic and functional properties
-
Azuma, M., J.H. Phillips, and L.L. Lanier. 1993. CD28-T lymphocytes: Antigenic and functional properties. J. Immunol. 150:1147-1159.
-
(1993)
J. Immunol
, vol.150
, pp. 1147-1159
-
-
Azuma, M.1
Phillips, J.H.2
Lanier, L.L.3
-
8
-
-
84974723289
-
Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage
-
Belkadi, A., V. Pedergnana, A. Cobat, Y. Itan, Q.B. Vincent, A. Abhyankar, L. Shang, J. El Baghdadi, A. Bousfiha, A. Alcais, et al. Exome/Array Consortium. 2016. Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage. Proc. Natl. Acad. Sci. USA. 113:6713-6718. http://dx.doi.org/10.1073/pnas.1606460113.
-
(2016)
Proc. Natl. Acad. Sci. USA
, vol.113
, pp. 6713-6718
-
-
Belkadi, A.1
Pedergnana, V.2
Cobat, A.3
Itan, Y.4
Vincent, Q.B.5
Abhyankar, A.6
Shang, L.7
El Baghdadi, J.8
Bousfiha, A.9
Alcais, A.10
-
9
-
-
0035167967
-
The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3
-
Bennett, C.L., J. Christie, F. Ramsdell, M.E. Brunkow, P.J. Ferguson, L. Whitesell, T.E. Kelly, F.T. Saulsbury, P.F. Chance, and H.D. Ochs. 2001. The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat. Genet. 27:20-21. http://dx.doi.org/10.1038/83713.
-
(2001)
Nat. Genet
, vol.27
, pp. 20-21
-
-
Bennett, C.L.1
Christie, J.2
Ramsdell, F.3
Brunkow, M.E.4
Ferguson, P.J.5
Whitesell, L.6
Kelly, T.E.7
Saulsbury, F.T.8
Chance, P.F.9
Ochs, H.D.10
-
10
-
-
0029163387
-
CD28 costimulation can promote T cell survival by enhancing the expression of Bcl-XL
-
Boise, L.H., A.J. Minn, P.J. Noel, C.H. June, M.A. Accavitti, T. Lindsten, and C.B. Thompson. 1995. CD28 costimulation can promote T cell survival by enhancing the expression of Bcl-XL. Immunity. 3:87-98. http://dx.doi.org/10.1016/1074-7613(95)90161-2.
-
(1995)
Immunity
, vol.3
, pp. 87-98
-
-
Boise, L.H.1
Minn, A.J.2
Noel, P.J.3
June, C.H.4
Accavitti, M.A.5
Lindsten, T.6
Thompson, C.B.7
-
11
-
-
2542461255
-
Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution
-
Buckley, R.H. 2004. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu. Rev. Immunol. 22:625-655. http://dx.doi.org/10.1146/annurev.immunol.22.012703.104614.
-
(2004)
Annu. Rev. Immunol
, vol.22
, pp. 625-655
-
-
Buckley, R.H.1
-
12
-
-
84920146763
-
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity
-
Bustamante, J., S. Boisson-Dupuis, L. Abel, and J.-L. Casanova. 2014. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity. Semin. Immunol. 26:454-470. http://dx.doi.org/10.1016/j.smim.2014.09.008.
-
(2014)
Semin. Immunol
, vol.26
, pp. 454-470
-
-
Bustamante, J.1
Boisson-Dupuis, S.2
Abel, L.3
Casanova, J.-L.4
-
13
-
-
84884376772
-
Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood
-
Byun, M., C.S. Ma, A. Akçay, V. Pedergnana, U. Palendira, J. Myoung, D.T. Avery, Y. Liu, A. Abhyankar, L. Lorenzo, et al. 2013. Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood. J. Exp. Med. 210:1743-1759. http://dx.doi.org/10.1084/jem.20130592.
-
(2013)
J. Exp. Med
, vol.210
, pp. 1743-1759
-
-
Byun, M.1
Ma, C.S.2
Akçay, A.3
Pedergnana, V.4
Palendira, U.5
Myoung, J.6
Avery, D.T.7
Liu, Y.8
Abhyankar, A.9
Lorenzo, L.10
-
14
-
-
0347089095
-
The human model: a genetic dissection of immunity to infection in natural conditions
-
Casanova, J.L., and L. Abel. 2004. The human model: a genetic dissection of immunity to infection in natural conditions. Nat. Rev. Immunol. 4:55-66. http://dx.doi.org/10.1038/nri1264.
-
(2004)
Nat. Rev. Immunol
, vol.4
, pp. 55-66
-
-
Casanova, J.L.1
Abel, L.2
-
15
-
-
84908247576
-
Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies
-
Casanova, J.-L., M.E. Conley, S.J. Seligman, L. Abel, and L.D. Notarangelo. 2014. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. J. Exp. Med. 211:2137-2149. http://dx.doi.org/10.1084/jem.20140520.
-
(2014)
J. Exp. Med
, vol.211
, pp. 2137-2149
-
-
Casanova, J.-L.1
Conley, M.E.2
Seligman, S.J.3
Abel, L.4
Notarangelo, L.D.5
-
16
-
-
0032843342
-
Studies in B7-deficient mice reveal a critical role for B7 costimulation in both induction and effector phases of experimental autoimmune encephalomyelitis
-
Chang, T.T., C. Jabs, R.A. Sobel, V.K. Kuchroo, and A.H. Sharpe. 1999. Studies in B7-deficient mice reveal a critical role for B7 costimulation in both induction and effector phases of experimental autoimmune encephalomyelitis. J. Exp. Med. 190:733-740. http://dx.doi.org/10.1084./jem.190.5.733.
-
(1999)
J. Exp. Med
, vol.190
, pp. 733-740
-
-
Chang, T.T.1
Jabs, C.2
Sobel, R.A.3
Kuchroo, V.K.4
Sharpe, A.H.5
-
17
-
-
0033784440
-
CRTH2 is the most reliable marker for the detection of circulating human type 2 Th and type 2 T cytotoxic cells in health and disease
-
Cosmi, L., F. Annunziato, M. Iwasaki, G. Galli, R. Manetti, E. Maggi, K. Nagata, and S. Romagnani. 2000. CRTH2 is the most reliable marker for the detection of circulating human type 2 Th and type 2 T cytotoxic cells in health and disease. Eur. J. Immunol. 30:2972-2979. http://dx.doi.org/10.1002/1521-4141(200010)30.:10<2972::AID-IMMU2972>3.0.CO;2-#
-
(2000)
Eur. J. Immunol
, vol.30
, pp. 2972-2979
-
-
Cosmi, L.1
Annunziato, F.2
Iwasaki, M.3
Galli, G.4
Manetti, R.5
Maggi, E.6
Nagata, K.7
Romagnani, S.8
-
18
-
-
84881109340
-
Differential expression and function of human IL-12Rβ2. polymorphic variants
-
de Paus, R.A., M.A. Geilenkirchen, S. van Riet, J.T. van Dissel, and E. van de Vosse. 2013. Differential expression and function of human IL-12Rβ2. polymorphic variants. Mol. Immunol. 56:380-389. http://dx.doi.org/10.1016/j.molimm.2013.07.002.
-
(2013)
Mol. Immunol
, vol.56
, pp. 380-389
-
-
de Paus, R.A.1
Geilenkirchen, M.A.2
van Riet, S.3
van Dissel, J.T.4
van de Vosse, E.5
-
19
-
-
9244245196
-
Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4-and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes
-
Feinberg, J., C. Fieschi, R. Doffinger, M. Feinberg, T. Leclerc, S. Boisson-Dupuis, C. Picard, J. Bustamante, A. Chapgier, O. Filipe-Santos, et al. 2004. Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4-and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes. Eur. J. Immunol. 34:3276-3284. http://dx.doi.org/10.1002/eji.200425221.
-
(2004)
Eur. J. Immunol
, vol.34
, pp. 3276-3284
-
-
Feinberg, J.1
Fieschi, C.2
Doffinger, R.3
Feinberg, M.4
Leclerc, T.5
Boisson-Dupuis, S.6
Picard, C.7
Bustamante, J.8
Chapgier, A.9
Filipe-Santos, O.10
-
20
-
-
45949108693
-
Herpesvirus saimiri transformation of human T lymphocytes
-
Fleckenstein, B., and A. Ensser. 2004. Herpesvirus saimiri transformation of human T lymphocytes. Curr. Protoc. Immunol. Chapter 7:7.21.1-7.21.11. http://dx.doi.org/10.1002/0471142735.im0721s63.
-
(2004)
Curr. Protoc. Immunol. Chapter
, vol.7
, Issue.21
, pp. 1-11
-
-
Fleckenstein, B.1
Ensser, A.2
-
21
-
-
0031985903
-
Regulation of monocyte IL-10 synthesis by endogenous IL-1 and TNF-a: role of the p38 and p42/44 mitogen-activated protein kinases
-
Foey, A.D., S.L. Parry, L.M. Williams, M. Feldmann, B.M. Foxwell, and F.M. Brennan. 1998. Regulation of monocyte IL-10 synthesis by endogenous IL-1 and TNF-a: role of the p38 and p42/44 mitogen-activated protein kinases. J. Immunol. 160:920-928.
-
(1998)
J. Immunol
, vol.160
, pp. 920-928
-
-
Foey, A.D.1
Parry, S.L.2
Williams, L.M.3
Feldmann, M.4
Foxwell, B.M.5
Brennan, F.M.6
-
22
-
-
84876918036
-
Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency
-
Greil, J., T. Rausch, T. Giese, O.R. Bandapalli, V. Daniel, I. Bekeredjian-Ding, A.M. Stütz, C. Drees, S. Roth, J. Ruland, et al. 2013. Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency. J. Allergy Clin. Immunol. 131:1376-1383.e3. http://dx.doi.org/10.1016/j.jaci.2013.02.012.
-
(2013)
J. Allergy Clin. Immunol
, vol.131
, pp. 1376-1383
-
-
Greil, J.1
Rausch, T.2
Giese, T.3
Bandapalli, O.R.4
Daniel, V.5
Bekeredjian-Ding, I.6
Stütz, A.M.7
Drees, C.8
Roth, S.9
Ruland, J.10
-
23
-
-
0037490078
-
The MAG UK family protein CARD11 is essential for lymphocyte activation
-
Hara, H., T. Wada, C. Bakal, I. Kozieradzki, S. Suzuki, N. Suzuki, M. Nghiem, E.K. Griffiths, C. Krawczyk, B. Bauer, et al. 2003. The MAG UK family protein CARD11 is essential for lymphocyte activation. Immunity. 18:763-775. http://dx.doi.org/10.1016/S1074-7613(03)00148-1.
-
(2003)
Immunity
, vol.18
, pp. 763-775
-
-
Hara, H.1
Wada, T.2
Bakal, C.3
Kozieradzki, I.4
Suzuki, S.5
Suzuki, N.6
Nghiem, M.7
Griffiths, E.K.8
Krawczyk, C.9
Bauer, B.10
-
24
-
-
0035077708
-
Mycobacterium bovis BCG-induced granuloma formation depends on gamma interferon and CD40 ligand but does not require CD28
-
Hogan, L.H., W. Markofski, A. Bock, B. Barger, J.D. Morrissey, and M. Sandor. 2001. Mycobacterium bovis BCG-induced granuloma formation depends on gamma interferon and CD40 ligand but does not require CD28. Infect. Immun. 69:2596-2603. http://dx.doi.org/10.1128/IAI.69.4.2596-2603.2001.
-
(2001)
Infect. Immun
, vol.69
, pp. 2596-2603
-
-
Hogan, L.H.1
Markofski, W.2
Bock, A.3
Barger, B.4
Morrissey, J.D.5
Sandor, M.6
-
25
-
-
44949272730
-
A time-efficient, linear-space local similarity algorithm
-
Huang, X., and W. Miller. 1991. A time-efficient, linear-space local similarity algorithm. Adv. Appl. Math. 12:337-357. http://dx.doi.org/10.1016./0196-8858(91)90017-D
-
(1991)
Adv. Appl. Math
, vol.12
, pp. 337-357
-
-
Huang, X.1
Miller, W.2
-
26
-
-
84946595515
-
The human gene damage index as a gene-level approach to prioritizing exome variants
-
Itan, Y., L. Shang, B. Boisson, E. Patin, A. Bolze, M. Moncada-Vélez, E. Scott, M.J. Ciancanelli, F.G. Lafaille, J.G. Markle, et al. 2015. The human gene damage index as a gene-level approach to prioritizing exome variants. Proc. Natl. Acad. Sci. USA. 112:13615-13620. http://dx.doi.org/10.1073./pnas.1518646112.
-
(2015)
Proc. Natl. Acad. Sci. USA
, vol.112
, pp. 13615-13620
-
-
Itan, Y.1
Shang, L.2
Boisson, B.3
Patin, E.4
Bolze, A.5
Moncada-Vélez, M.6
Scott, E.7
Ciancanelli, M.J.8
Lafaille, F.G.9
Markle, J.G.10
-
27
-
-
84961309083
-
The mutation significance cutoff: gene-level thresholds for variant predictions
-
Itan, Y., L. Shang, B. Boisson, M.J. Ciancanelli, J.G. Markle, R. Martinez-Barricarte, E. Scott, I. Shah, P.D. Stenson, J. Gleeson, et al. 2016. The mutation significance cutoff: gene-level thresholds for variant predictions. Nat. Methods. 13:109-110. http://dx.doi.org/10.1038/nmeth.3739.
-
(2016)
Nat. Methods
, vol.13
, pp. 109-110
-
-
Itan, Y.1
Shang, L.2
Boisson, B.3
Ciancanelli, M.J.4
Markle, J.G.5
Martinez-Barricarte, R.6
Scott, E.7
Shah, I.8
Stenson, P.D.9
Gleeson, J.10
-
28
-
-
84882912219
-
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency
-
Jabara, H.H., T. Ohsumi, J. Chou, M.J. Massaad, H. Benson, A. Megarbane, E. Chouery, R. Mikhael, O. Gorka, A. Gewies, et al. 2013. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. J. Allergy Clin. Immunol. 132:151-158. http://dx.doi.org/10.1016/j.jaci.2013.04.047.
-
(2013)
J. Allergy Clin. Immunol
, vol.132
, pp. 151-158
-
-
Jabara, H.H.1
Ohsumi, T.2
Chou, J.3
Massaad, M.J.4
Benson, H.5
Megarbane, A.6
Chouery, E.7
Mikhael, R.8
Gorka, O.9
Gewies, A.10
-
29
-
-
84977487188
-
Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation
-
Keles, S., L.M. Charbonnier, V. Kabaleeswaran, I. Reisli, F. Genel, N. Gulez, W. Al-Herz, N. Ramesh, A. Perez-Atayde, N.K. Eeder, et al. 2016. Dedicator of cytokinesis 8 regulates signal transducer and activator of transcription 3 activation and promotes TH17 cell differentiation. J. Allergy Clin. Immunol. S0091-6749:30352-30359. http://dx.doi.org/10.1016/j.jaci.2016.04.023.
-
(2016)
J. Allergy Clin. Immunol. S0091
, vol.6749
, pp. 30352-30359
-
-
Keles, S.1
Charbonnier, L.M.2
Kabaleeswaran, V.3
Reisli, I.4
Genel, F.5
Gulez, N.6
Al-Herz, W.7
Ramesh, N.8
Perez-Atayde, A.9
Eeder, N.K.10
-
30
-
-
84895858942
-
A general framework for estimating the relative pathogenicity of human genetic variants
-
Kircher, M., D.M. Witten, P. Jain, B.J. O'Roak, G.M. Cooper, and J. Shendure. 2014. A general framework for estimating the relative pathogenicity of human genetic variants. Nat. Genet. 46:310-315. http://dx.doi.org/10.1038/ng.2892.
-
(2014)
Nat. Genet
, vol.46
, pp. 310-315
-
-
Kircher, M.1
Witten, D.M.2
Jain, P.3
O'Roak, B.J.4
Cooper, G.M.5
Shendure, J.6
-
31
-
-
84944807941
-
Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome
-
Kreins, A.Y., M.J. Ciancanelli, S. Okada, X.-F. Kong, N. Ramírez-Alejo, S.S. Kilic, J. El Baghdadi, S. Nonoyama, S.A. Mahdaviani, F. Ailal, et al. 2015. Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. J. Exp. Med. 212:1641-1662. http://dx.doi.org/10.1084/jem.20140280.
-
(2015)
J. Exp. Med
, vol.212
, pp. 1641-1662
-
-
Kreins, A.Y.1
Ciancanelli, M.J.2
Okada, S.3
Kong, X.-F.4
Ramírez-Alejo, N.5
Kilic, S.S.6
El Baghdadi, J.7
Nonoyama, S.8
Mahdaviani, S.A.9
Ailal, F.10
-
32
-
-
84907909000
-
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4
-
Kuehn, H.S., W. Ouyang, B. Lo, E.K. Deenick, J.E. Niemela, D.T. Avery, J.-N. Schickel, D.Q. Tran, J. Stoddard, Y. Zhang, et al. 2014. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. 345:1623-1627. http://dx.doi.org/10.1126/science.1255904.
-
(2014)
Science
, vol.345
, pp. 1623-1627
-
-
Kuehn, H.S.1
Ouyang, W.2
Lo, B.3
Deenick, E.K.4
Niemela, J.E.5
Avery, D.T.6
Schickel, J.-N.7
Tran, D.Q.8
Stoddard, J.9
Zhang, Y.10
-
33
-
-
77949587649
-
Fast and accurate long-read alignment with Burrows-Wheeler transform
-
Li, H., and R. Durbin. 2010. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 26:589-595. http://dx.doi.org/10.1093/bioinformatics/btp698.
-
(2010)
Bioinformatics
, vol.26
, pp. 589-595
-
-
Li, H.1
Durbin, R.2
-
34
-
-
68549104404
-
The sequence alignment/map format and SAMtools
-
Li, H., B. Handsaker, A. Wysoker, T. Fennell, J. Ruan, N. Homer, G. Marth, G. Abecasis, and R. Durbin. 1000 Genome Project Data Processing Subgroup. 2009. The sequence alignment/map format and SAMtools. Bioinformatics. 25:2078-2079. http://dx.doi.org/10.1093/bioinformatics/btp352.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
Fennell, T.4
Ruan, J.5
Homer, N.6
Marth, G.7
Abecasis, G.8
Durbin, R.9
-
35
-
-
73849090221
-
Distinct roles for CAR MIL isoforms in cell migration
-
Liang, Y., H. Niederstrasser, M. Edwards, C.E. Jackson, and J.A. Cooper. 2009. Distinct roles for CAR MIL isoforms in cell migration. Mol. Biol. Cell. 20:5290-5305. http://dx.doi.org/10.1091/mbc.E08-10-1071.
-
(2009)
Mol. Biol. Cell
, vol.20
, pp. 5290-5305
-
-
Liang, Y.1
Niederstrasser, H.2
Edwards, M.3
Jackson, C.E.4
Cooper, J.A.5
-
36
-
-
84880830434
-
The lymphoid lineage-specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells
-
Liang, Y., M. Cucchetti, R. Roncagalli, T. Yokosuka, A. Malzac, E. Bertosio, J. Imbert, I.J. Nijman, M. Suchanek, T. Saito, et al. 2013. The lymphoid lineage-specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells. Nat. Immunol. 14:858-866. http://dx.doi.org/10.1038/ni.2634.
-
(2013)
Nat. Immunol
, vol.14
, pp. 858-866
-
-
Liang, Y.1
Cucchetti, M.2
Roncagalli, R.3
Yokosuka, T.4
Malzac, A.5
Bertosio, E.6
Imbert, J.7
Nijman, I.J.8
Suchanek, M.9
Saito, T.10
-
37
-
-
46949089128
-
Deficiency of Th17. cells in hyper IgE syndrome due to mutations in STAT3
-
Ma, C.S., G.Y.J. Chew, N. Simpson, A. Priyadarshi, M. Wong, B. Grimbacher, D.A. Fulcher, S.G. Tangye, and M.C. Cook. 2008. Deficiency of Th17. cells in hyper IgE syndrome due to mutations in STAT3. J. Exp. Med. 205:1551-1557. http://dx.doi.org/10.1084/jem.20080218.
-
(2008)
J. Exp. Med
, vol.205
, pp. 1551-1557
-
-
Ma, C.S.1
Chew, G.Y.J.2
Simpson, N.3
Priyadarshi, A.4
Wong, M.5
Grimbacher, B.6
Fulcher, D.A.7
Tangye, S.G.8
Cook, M.C.9
-
38
-
-
84859711557
-
Functional STAT3 deficiency compromises the generation of human T follicular helper cells
-
Ma, C.S., D.T. Avery, A. Chan, M. Batten, J. Bustamante, S. Boisson-Dupuis, P.D. Arkwright, A.Y. Kreins, D. Averbuch, D. Engelhard, et al. 2012. Functional STAT3 deficiency compromises the generation of human T follicular helper cells. Blood. 119:3997-4008. http://dx.doi.org/10.1182./blood-2011-11-392985.
-
(2012)
Blood
, vol.119
, pp. 3997-4008
-
-
Ma, C.S.1
Avery, D.T.2
Chan, A.3
Batten, M.4
Bustamante, J.5
Boisson-Dupuis, S.6
Arkwright, P.D.7
Kreins, A.Y.8
Averbuch, D.9
Engelhard, D.10
-
39
-
-
84943454615
-
Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies
-
Ma, C.S., N. Wong, G. Rao, D.T. Avery, J. Torpy, T. Hambridge, J. Bustamante, S. Okada, J.L. Stoddard, E.K. Deenick, et al. 2015. Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies. J. Allergy Clin. Immunol. 136:993-1006.e1. http://dx.doi.org/10.1016/j.jaci.2015.05.036.
-
(2015)
J. Allergy Clin. Immunol
, vol.136
, pp. 993-1006
-
-
Ma, C.S.1
Wong, N.2
Rao, G.3
Avery, D.T.4
Torpy, J.5
Hambridge, T.6
Bustamante, J.7
Okada, S.8
Stoddard, J.L.9
Deenick, E.K.10
-
40
-
-
84982938276
-
Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets
-
Ma, C.S., N. Wong, G. Rao, A. Nguyen, D.T. Avery, K. Payne, J. Torpy, P. O'Young, E. Deenick, J. Bustamante, et al. 2016. Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets. J. Exp. Med. 213:1589-1608. http://dx.doi.org/10.1084/jem.20151467.
-
(2016)
J. Exp. Med
, vol.213
, pp. 1589-1608
-
-
Ma, C.S.1
Wong, N.2
Rao, G.3
Nguyen, A.4
Avery, D.T.5
Payne, K.6
Torpy, J.7
O'Young, P.8
Deenick, E.9
Bustamante, J.10
-
41
-
-
9944230432
-
Identification, expression analysis and polymorphism of a novel RLT PR gene encoding a RGD motif, tropomodulin domain and proline/leucine-rich regions
-
Matsuzaka, Y., K. Okamoto, T. Mabuchi, M. Iizuka, A. Ozawa, A. Oka, G. Tamiya, J.K. Kulski, and H. Inoko. 2004. Identification, expression analysis and polymorphism of a novel RLT PR gene encoding a RGD motif, tropomodulin domain and proline/leucine-rich regions. Gene. 343:291-304. http://dx.doi.org/10.1016/j.gene.2004.09.004.
-
(2004)
Gene
, vol.343
, pp. 291-304
-
-
Matsuzaka, Y.1
Okamoto, K.2
Mabuchi, T.3
Iizuka, M.4
Ozawa, A.5
Oka, A.6
Tamiya, G.7
Kulski, J.K.8
Inoko, H.9
-
42
-
-
77956295988
-
The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data
-
McKenna, A., M. Hanna, E. Banks, A. Sivachenko, K. Cibulskis, A. Kernytsky, K. Garimella, D. Altshuler, S. Gabriel, M. Daly, and M.A. DePristo. 2010. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 20:1297-1303. http://dx.doi.org/10.1101/gr.107524.110.
-
(2010)
Genome Res
, vol.20
, pp. 1297-1303
-
-
McKenna, A.1
Hanna, M.2
Banks, E.3
Sivachenko, A.4
Cibulskis, K.5
Kernytsky, A.6
Garimella, K.7
Altshuler, D.8
Gabriel, S.9
Daly, M.10
DePristo, M.A.11
-
43
-
-
84899620444
-
Combined immunodeficiency associated with homozygous MALT1. mutations
-
McKinnon, M.L., J. Rozmus, S.-Y. Fung, A.F. Hirschfeld, K.L. Del Bel, L. Thomas, N. Marr, S.D. Martin, A.K. Marwaha, J.J. Priatel, et al. 2014. Combined immunodeficiency associated with homozygous MALT1. mutations. J. Allergy Clin. Immunol. 133:1458-1462.e7. http://dx.doi.org/10.1016/j.jaci.2013.10.045.
-
(2014)
J. Allergy Clin. Immunol
, vol.133
, pp. 1458-1462
-
-
McKinnon, M.L.1
Rozmus, J.2
Fung, S.-Y.3
Hirschfeld, A.F.4
Del Bel, K.L.5
Thomas, L.6
Marr, N.7
Martin, S.D.8
Marwaha, A.K.9
Priatel, J.J.10
-
44
-
-
50949106932
-
Runs of homozygosity in European populations
-
McQuillan, R., A.-L. Leutenegger, R. Abdel-Rahman, C.S. Franklin, M. Pericic, L. Barac-Lauc, N. Smolej-Narancic, B. Janicijevic, O. Polasek, A. Tenesa, et al. 2008. Runs of homozygosity in European populations. Am. J. Hum. Genet. 83:359-372. http://dx.doi.org/10.1016/j.ajhg.2008.08.007.
-
(2008)
Am. J. Hum. Genet
, vol.83
, pp. 359-372
-
-
McQuillan, R.1
Leutenegger, A.-L.2
Abdel-Rahman, R.3
Franklin, C.S.4
Pericic, M.5
Barac-Lauc, L.6
Smolej-Narancic, N.7
Janicijevic, B.8
Polasek, O.9
Tenesa, A.10
-
45
-
-
33744910592
-
CAR MA1 is critical for the development of allergic airway inflammation in a murine model of asthma
-
Medoff, B.D., B. Seed, R. Jackobek, J. Zora, Y. Yang, A.D. Luster, and R. Xavier. 2006. CAR MA1 is critical for the development of allergic airway inflammation in a murine model of asthma. J. Immunol. 176:7272-7277. http://dx.doi.org/10.4049/jimmunol.176.12.7272.
-
(2006)
J. Immunol
, vol.176
, pp. 7272-7277
-
-
Medoff, B.D.1
Seed, B.2
Jackobek, R.3
Zora, J.4
Yang, Y.5
Luster, A.D.6
Xavier, R.7
-
46
-
-
33846287885
-
Lymphopenic mice reconstituted with limited repertoire T cells develop severe, multiorgan, Th2-associated inflammatory disease
-
Milner, J.D., J.M. Ward, A. Keane-Myers, and W.E. Paul. 2007. Lymphopenic mice reconstituted with limited repertoire T cells develop severe, multiorgan, Th2-associated inflammatory disease. Proc. Natl. Acad. Sci. USA. 104:576-581. http://dx.doi.org/10.1073/pnas.0610289104.
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 576-581
-
-
Milner, J.D.1
Ward, J.M.2
Keane-Myers, A.3
Paul, W.E.4
-
47
-
-
41449110468
-
Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome
-
Milner, J.D., J.M. Brenchley, A. Laurence, A.F. Freeman, B.J. Hill, K.M. Elias, Y. Kanno, C. Spalding, H.Z. Elloumi, M.L. Paulson, et al. 2008. Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome. Nature. 452:773-776. http://dx.doi.org/10.1038/nature06764.
-
(2008)
Nature
, vol.452
, pp. 773-776
-
-
Milner, J.D.1
Brenchley, J.M.2
Laurence, A.3
Freeman, A.F.4
Hill, B.J.5
Elias, K.M.6
Kanno, Y.7
Spalding, C.8
Elloumi, H.Z.9
Paulson, M.L.10
-
48
-
-
0344614706
-
Critical role of CD28 in protective immunity against Salmonella typhimurium
-
Mittrücker, H.-W., A. Köhler, T.W. Mak, and S.H.E. Kaufmann. 1999. Critical role of CD28 in protective immunity against Salmonella typhimurium. J. Immunol. 163:6769-6776.
-
(1999)
J. Immunol
, vol.163
, pp. 6769-6776
-
-
Mittrücker, H.-W.1
Köhler, A.2
Mak, T.W.3
Kaufmann, S.H.E.4
-
49
-
-
0035889910
-
Role of CD28 for the generation and expansion of antigen-specific CD8+ T lymphocytes during infection with Listeria monocytogenes
-
Mittrücker, H.-W., M. Kursar, A. Köhler, R. Hurwitz, and S.H.E. Kaufmann. 2001. Role of CD28 for the generation and expansion of antigen-specific CD8+ T lymphocytes during infection with Listeria monocytogenes. J. Immunol. 167:5620-5627. http://dx.doi.org/10.4049/jimmunol.167.10.5620.
-
(2001)
J. Immunol
, vol.167
, pp. 5620-5627
-
-
Mittrücker, H.-W.1
Kursar, M.2
Köhler, A.3
Hurwitz, R.4
Kaufmann, S.H.E.5
-
50
-
-
0036884607
-
B7/CD28-dependent CD4+CD25+ regulatory T cells are essential components of the memory-protective immunity to Candida albicans
-
Montagnoli, C., A. Bacci, S. Bozza, R. Gaziano, P. Mosci, A.H. Sharpe, and L. Romani. 2002. B7/CD28-dependent CD4+CD25+ regulatory T cells are essential components of the memory-protective immunity to Candida albicans. J. Immunol. 169:6298-6308. http://dx.doi.org/10.4049/jimmunol.169.11.6298.
-
(2002)
J. Immunol
, vol.169
, pp. 6298-6308
-
-
Montagnoli, C.1
Bacci, A.2
Bozza, S.3
Gaziano, R.4
Mosci, P.5
Sharpe, A.H.6
Romani, L.7
-
51
-
-
25444436686
-
The Molecular Biology Toolkit (MBT): a modular platform for developing molecular visualization applications
-
Moreland, J.L., A. Gramada, O.V. Buzko, Q. Zhang, and P.E. Bourne. 2005. The Molecular Biology Toolkit (MBT): a modular platform for developing molecular visualization applications. BMC Bioinformatics. 6:21. http://dx.doi.org/10.1186/1471-2105-6-21.
-
(2005)
BMC Bioinformatics
, vol.6
, pp. 21
-
-
Moreland, J.L.1
Gramada, A.2
Buzko, O.V.3
Zhang, Q.4
Bourne, P.E.5
-
52
-
-
0033083112
-
Selective expression of a novel surface molecule by human Th2 cells in vivo
-
Nagata, K., K. Tanaka, K. Ogawa, K. Kemmotsu, T. Imai, O. Yoshie, H. Abe, K. Tada, M. Nakamura, K. Sugamura, and S. Takano. 1999. Selective expression of a novel surface molecule by human Th2 cells in vivo. J. Immunol. 162:1278-1286.
-
(1999)
J. Immunol
, vol.162
, pp. 1278-1286
-
-
Nagata, K.1
Tanaka, K.2
Ogawa, K.3
Kemmotsu, K.4
Imai, T.5
Yoshie, O.6
Abe, H.7
Tada, K.8
Nakamura, M.9
Sugamura, K.10
Takano, S.11
-
53
-
-
0035026704
-
Predicting deleterious amino acid substitutions
-
Ng, P.C., and S. Henikoff. 2001. Predicting deleterious amino acid substitutions. Genome Res. 11:863-874. http://dx.doi.org/10.1101/gr.176601.
-
(2001)
Genome Res
, vol.11
, pp. 863-874
-
-
Ng, P.C.1
Henikoff, S.2
-
54
-
-
84891356675
-
Combined Immunodeficiencies with Nonfunctional T Lymphocytes
-
F.W. Alt, editor. Academic Press, Cambridge, MA
-
Notarangelo, L.D. 2014. Combined Immunodeficiencies with Nonfunctional T Lymphocytes. In Advances in Immunology. F.W. Alt, editor. Academic Press, Cambridge, MA. 121-190.
-
(2014)
Advances in Immunology
, pp. 121-190
-
-
Notarangelo, L.D.1
-
55
-
-
77649220954
-
Mechanisms underlying lineage commitment and plasticity of helper CD4+ T cells
-
O'Shea, J.J., and W.E. Paul. 2010. Mechanisms underlying lineage commitment and plasticity of helper CD4+ T cells. Science. 327:1098-1102. http://dx.doi.org/10.1126/science.1178334.
-
(2010)
Science
, vol.327
, pp. 1098-1102
-
-
O'Shea, J.J.1
Paul, W.E.2
-
56
-
-
84939154723
-
Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations
-
Okada, S., J.G. Markle, E.K. Deenick, F. Mele, D. Averbuch, M. Lagos, M. Alzahrani, S. Al-Muhsen, R. Halwani, C.S. Ma, et al. 2015. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations. Science. 349:606-613. http://dx.doi.org/10.1126/science.aaa4282.
-
(2015)
Science
, vol.349
, pp. 606-613
-
-
Okada, S.1
Markle, J.G.2
Deenick, E.K.3
Mele, F.4
Averbuch, D.5
Lagos, M.6
Alzahrani, M.7
Al-Muhsen, S.8
Halwani, R.9
Ma, C.S.10
-
57
-
-
57149128460
-
Primary immune deficiencies with aberrant IgE production
-
Ozcan, E., L.D. Notarangelo, and R.S. Geha. 2008. Primary immune deficiencies with aberrant IgE production. J. Allergy Clin. Immunol. 122:1054-1062. http://dx.doi.org/10.1016/j.jaci.2008.10.023.
-
(2008)
J. Allergy Clin. Immunol
, vol.122
, pp. 1054-1062
-
-
Ozcan, E.1
Notarangelo, L.D.2
Geha, R.S.3
-
58
-
-
0035889896
-
The development of a Th1-type response and resistance to Leishmania major infection in the absence of CD40-CD40L costimulation
-
Padigel, U.M., P.J. Perrin, and J.P. Farrell. 2001. The development of a Th1-type response and resistance to Leishmania major infection in the absence of CD40-CD40L costimulation. J. Immunol. 167:5874-5879. http://dx.doi.org/10.4049/jimmunol.167.10.5874.
-
(2001)
J. Immunol
, vol.167
, pp. 5874-5879
-
-
Padigel, U.M.1
Perrin, P.J.2
Farrell, J.P.3
-
59
-
-
85027937448
-
Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphomatranslocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity
-
Pérez de Diego, R., S. Sánchez-Ramón, E. López-Collazo, R. Martínez-Barricarte, C. Cubillos-Zapata, A. Ferreira Cerdán, J.-L. Casanova, and A. Puel. 2015. Genetic errors of the human caspase recruitment domain-B-cell lymphoma 10-mucosa-associated lymphoid tissue lymphomatranslocation gene 1 (CBM) complex: Molecular, immunologic, and clinical heterogeneity. J. Allergy Clin. Immunol. 136:1139-1149. http://dx.doi.org/10.1016/j.jaci.2015.06.031.
-
(2015)
J. Allergy Clin. Immunol
, vol.136
, pp. 1139-1149
-
-
Pérez de Diego, R.1
Sánchez-Ramón, S.2
López-Collazo, E.3
Martínez-Barricarte, R.4
Cubillos-Zapata, C.5
Ferreira Cerdán, A.6
Casanova, J.-L.7
Puel, A.8
-
60
-
-
84948581722
-
Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency 2015
-
Picard, C., W. Al-Herz, A. Bousfiha, J.-L. Casanova, T. Chatila, M.E. Conley, C. Cunningham-Rundles, A. Etzioni, S.M. Holland, C. Klein, et al. 2015. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency 2015. J. Clin. Immunol. 35:696-726. http://dx.doi.org/10.1007/s10875-015-0201-1.
-
(2015)
J. Clin. Immunol
, vol.35
, pp. 696-726
-
-
Picard, C.1
Al-Herz, W.2
Bousfiha, A.3
Casanova, J.-L.4
Chatila, T.5
Conley, M.E.6
Cunningham-Rundles, C.7
Etzioni, A.8
Holland, S.M.9
Klein, C.10
-
61
-
-
40449106777
-
Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6
-
Puel, A., C. Picard, M. Lorrot, C. Pons, M. Chrabieh, L. Lorenzo, M. Mamani-Matsuda, E. Jouanguy, D. Gendrel, and J.L. Casanova. 2008. Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6. J. Immunol. 180:647-654. http://dx.doi.org/10.4049/jimmunol.180.1.647.
-
(2008)
J. Immunol
, vol.180
, pp. 647-654
-
-
Puel, A.1
Picard, C.2
Lorrot, M.3
Pons, C.4
Chrabieh, M.5
Lorenzo, L.6
Mamani-Matsuda, M.7
Jouanguy, E.8
Gendrel, D.9
Casanova, J.L.10
-
62
-
-
79953284685
-
Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity
-
Puel, A., S. Cypowyj, J. Bustamante, J.F. Wright, L. Liu, H.K. Lim, M. Migaud, L. Israel, M. Chrabieh, M. Audry, et al. 2011. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science. 332:65-68. http://dx.doi.org/10.1126/science.1200439.
-
(2011)
Science
, vol.332
, pp. 65-68
-
-
Puel, A.1
Cypowyj, S.2
Bustamante, J.3
Wright, J.F.4
Liu, L.5
Lim, H.K.6
Migaud, M.7
Israel, L.8
Chrabieh, M.9
Audry, M.10
-
63
-
-
84871321329
-
Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis
-
Puel, A., S. Cypowyj, L. Maródi, L. Abel, C. Picard, and J.L. Casanova. 2012. Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. Curr. Opin. Allergy Clin. Immunol. 12:616-622. http://dx.doi.org/10.1097/ACI.0b013e328358cc0b
-
(2012)
Curr. Opin. Allergy Clin. Immunol
, vol.12
, pp. 616-622
-
-
Puel, A.1
Cypowyj, S.2
Maródi, L.3
Abel, L.4
Picard, C.5
Casanova, J.L.6
-
64
-
-
84925533763
-
Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation
-
Punwani, D., H. Wang, A.Y. Chan, M.J. Cowan, J. Mallott, U. Sunderam, M. Mollenauer, R. Srinivasan, S.E. Brenner, A. Mulder, et al. 2015. Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation. J. Clin. Immunol. 35:135-146. http://dx.doi.org/10.1007/s10875-014-0125-1.
-
(2015)
J. Clin. Immunol
, vol.35
, pp. 135-146
-
-
Punwani, D.1
Wang, H.2
Chan, A.Y.3
Cowan, M.J.4
Mallott, J.5
Sunderam, U.6
Mollenauer, M.7
Srinivasan, R.8
Brenner, S.E.9
Mulder, A.10
-
65
-
-
34548292504
-
PLI NK: a tool set for whole-genome association and population-based linkage analyses
-
Purcell, S., B. Neale, K. Todd-Brown, L. Thomas, M.A.R. Ferreira, D. Bender, J. Maller, P. Sklar, P.I.W. de Bakker, M.J. Daly, and P.C. Sham. 2007. PLI NK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81:559-575. http://dx.doi.org/10.1086/519795.
-
(2007)
Am. J. Hum. Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.R.5
Bender, D.6
Maller, J.7
Sklar, P.8
de Bakker, P.I.W.9
Daly, M.J.10
Sham, P.C.11
-
66
-
-
33947687864
-
Four functionally distinct populations of human effector-memory CD8+ T lymphocytes
-
Romero, P., A. Zippelius, I. Kurth, M.J. Pittet, C. Touvrey, E.M. Iancu, P. Corthesy, E. Devevre, D.E. Speiser, and N. Rufer. 2007. Four functionally distinct populations of human effector-memory CD8+ T lymphocytes. J. Immunol. 178:4112-4119. http://dx.doi.org/10.4049/jimmunol.178.7.4112.
-
(2007)
J. Immunol
, vol.178
, pp. 4112-4119
-
-
Romero, P.1
Zippelius, A.2
Kurth, I.3
Pittet, M.J.4
Touvrey, C.5
Iancu, E.M.6
Corthesy, P.7
Devevre, E.8
Speiser, D.E.9
Rufer, N.10
-
67
-
-
85008149494
-
The scaffolding function of the RLT PR protein explains its essential role for CD28 costimulation in mouse and human T cells
-
Roncagalli, R., M. Cucchetti, N. Jarmuzynski, C. Gregoire, E. Bergot, S. Audebert, E. Baudelet, M. Goncalves Menoita, A. Joachim, S. Durand, et al. 2016. The scaffolding function of the RLT PR protein explains its essential role for CD28 costimulation in mouse and human T cells. J. Exp. Med. http://dx.doi.org/10.1084/jem.20160579.
-
(2016)
J. Exp. Med
-
-
Roncagalli, R.1
Cucchetti, M.2
Jarmuzynski, N.3
Gregoire, C.4
Bergot, E.5
Audebert, S.6
Baudelet, E.7
Goncalves Menoita, M.8
Joachim, A.9
Durand, S.10
-
68
-
-
17744386318
-
Bcl10 is a positive regulator of antigen receptor-induced activation of NF-κ B and neural tube closure
-
Ruland, J., G.S. Duncan, A. Elia, I. del Barco Barrantes, L. Nguyen, S. Plyte, D.G. Millar, D. Bouchard, A. Wakeham, P.S. Ohashi, and T.W. Mak. 2001. Bcl10 is a positive regulator of antigen receptor-induced activation of NF-κ B and neural tube closure. Cell. 104:33-42. http://dx.doi.org/10.1016/S0092-8674(01)00189-1.
-
(2001)
Cell
, vol.104
, pp. 33-42
-
-
Ruland, J.1
Duncan, G.S.2
Elia, A.3
del Barco Barrantes, I.4
Nguyen, L.5
Plyte, S.6
Millar, D.G.7
Bouchard, D.8
Wakeham, A.9
Ohashi, P.S.10
Mak, T.W.11
-
69
-
-
84874537855
-
Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27
-
Salzer, E., S. Daschkey, S. Choo, M. Gombert, E. Santos-Valente, S. Ginzel, M. Schwendinger, O.A. Haas, G. Fritsch, W.F. Pickl, et al. 2013. Combined immunodeficiency with life-threatening EBV-associated lymphoproliferative disorder in patients lacking functional CD27. Haematologica. 98:473-478. http://dx.doi.org/10.3324/haematol.2012.068791.
-
(2013)
Haematologica
, vol.98
, pp. 473-478
-
-
Salzer, E.1
Daschkey, S.2
Choo, S.3
Gombert, M.4
Santos-Valente, E.5
Ginzel, S.6
Schwendinger, M.7
Haas, O.A.8
Fritsch, G.9
Pickl, W.F.10
-
70
-
-
84938070889
-
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations
-
Schubert, D., C. Bode, R. Kenefeck, T.Z. Hou, J.B. Wing, A. Kennedy, A. Bulashevska, B.-S. Petersen, A.A. Schäffer, B.A. Grüning, et al. 2014. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat. Med. 20:1410-1416. http://dx.doi.org/10.1038./nm.3746.
-
(2014)
Nat. Med
, vol.20
, pp. 1410-1416
-
-
Schubert, D.1
Bode, C.2
Kenefeck, R.3
Hou, T.Z.4
Wing, J.B.5
Kennedy, A.6
Bulashevska, A.7
Petersen, B.-S.8
Schäffer, A.A.9
Grüning, B.A.10
-
71
-
-
84978705937
-
Capture of greater middle eastern genetic variation enhances disease gene discovery
-
In press
-
Scott, E.M., A. Halees, Y. Itan, E.G. Spencer, Y. He, M. Abdellateef, S.B. Gabriel, A. Belkadi, B. Boisson, L. Abel, et al. Middle East Variome Consortium. 2016. Capture of greater middle eastern genetic variation enhances disease gene discovery. Nat. Genet. In press.
-
(2016)
Nat. Genet
-
-
Scott, E.M.1
Halees, A.2
Itan, Y.3
Spencer, E.G.4
He, Y.5
Abdellateef, M.6
Gabriel, S.B.7
Belkadi, A.8
Boisson, B.9
Abel, L.10
-
72
-
-
0027281691
-
Differential T cell costimulatory requirements in CD28-deficient mice
-
Shahinian, A., K. Pfeffer, K.P. Lee, T.M. Kündig, K. Kishihara, A. Wakeham, K. Kawai, P.S. Ohashi, C.B. Thompson, and T.W. Mak. 1993. Differential T cell costimulatory requirements in CD28-deficient mice. Science. 261:609-612. http://dx.doi.org/10.1126/science.7688139.
-
(1993)
Science
, vol.261
, pp. 609-612
-
-
Shahinian, A.1
Pfeffer, K.2
Lee, K.P.3
Kündig, T.M.4
Kishihara, K.5
Wakeham, A.6
Kawai, K.7
Ohashi, P.S.8
Thompson, C.B.9
Mak, T.W.10
-
73
-
-
0031770186
-
Differential requirements for CD28 and CD40 ligand in the induction of experimental autoimmune myasthenia gravis
-
Shi, F.D., B. He, H. Li, D. Matusevicius, H. Link, and H.G. Ljunggren. 1998. Differential requirements for CD28 and CD40 ligand in the induction of experimental autoimmune myasthenia gravis. Eur. J. Immunol. 28:3587-3593. http://dx.doi.org/10.1002/(SICI)1521-4141(199811)28.:11<3587::AID-IMMU3587>3.0.CO;2-Y
-
(1998)
Eur. J. Immunol
, vol.28
, pp. 3587-3593
-
-
Shi, F.D.1
He, B.2
Li, H.3
Matusevicius, D.4
Link, H.5
Ljunggren, H.G.6
-
74
-
-
84873348862
-
Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects
-
Stepensky, P., B. Keller, M. Buchta, A.-K. Kienzler, O. Elpeleg, R. Somech, S. Cohen, I. Shachar, L.A. Miosge, M. Schlesier, et al. 2013. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. J. Allergy Clin. Immunol. 131:477-485.e1. http://dx.doi.org/10.1016/j.jaci.2012.11.050.
-
(2013)
J. Allergy Clin. Immunol
, vol.131
, pp. 477-485
-
-
Stepensky, P.1
Keller, B.2
Buchta, M.3
Kienzler, A.-K.4
Elpeleg, O.5
Somech, R.6
Cohen, S.7
Shachar, I.8
Miosge, L.A.9
Schlesier, M.10
-
75
-
-
78650445284
-
Estimation of the neutrality index
-
Stoletzki, N., and A. Eyre-Walker. 2011. Estimation of the neutrality index. Mol. Biol. Evol. 28:63-70. http://dx.doi.org/10.1093/molbev/msq249.
-
(2011)
Mol. Biol. Evol
, vol.28
, pp. 63-70
-
-
Stoletzki, N.1
Eyre-Walker, A.2
-
76
-
-
0032963292
-
CD28-deficient mice are highly resistant to collagen-induced arthritis
-
Tada, Y., K. Nagasawa, A. Ho, F. Morito, O. Ushiyama, N. Suzuki, H. Ohta, and T.W. Mak. 1999. CD28-deficient mice are highly resistant to collagen-induced arthritis. J. Immunol. 162:203-208.
-
(1999)
J. Immunol
, vol.162
, pp. 203-208
-
-
Tada, Y.1
Nagasawa, K.2
Ho, A.3
Morito, F.4
Ushiyama, O.5
Suzuki, N.6
Ohta, H.7
Mak, T.W.8
-
77
-
-
84930898417
-
XLP: clinical features and molecular etiology due to mutations in SH2D1A encoding SAP
-
Tangye, S.G. 2014. XLP: clinical features and molecular etiology due to mutations in SH2D1A encoding SAP. J. Clin. Immunol. 34:772-779. http://dx.doi.org/10.1007/s10875-014-0083-7.
-
(2014)
J. Clin. Immunol
, vol.34
, pp. 772-779
-
-
Tangye, S.G.1
-
78
-
-
84878257992
-
The good, the bad and the ugly-TFH cells in human health and disease
-
Tangye, S.G., C.S. Ma, R. Brink, and E.K. Deenick. 2013. The good, the bad and the ugly-TFH cells in human health and disease. Nat. Rev. Immunol. 13:412-426. http://dx.doi.org/10.1038/nri3447.
-
(2013)
Nat. Rev. Immunol
, vol.13
, pp. 412-426
-
-
Tangye, S.G.1
Ma, C.S.2
Brink, R.3
Deenick, E.K.4
-
79
-
-
84994545621
-
DOCK8-deficient CD4+ T cells are biased to a Th2 effector fate at the expense of Th1 and Th17 cells
-
Tangye, S.G., B. Pillay, K.L. Randall, D.T. Avery, T.G. Phan, P. Gray, J.B. Ziegler, J.M. Smart, J. Peake, P.D. Arkwright, et al. 2016. DOCK8-deficient CD4+ T cells are biased to a Th2 effector fate at the expense of Th1 and Th17 cells. J. Allergy Clin. Immunol. http://dx.doi.org/10.1016/j.jaci.2016.07.016.
-
(2016)
J. Allergy Clin. Immunol
-
-
Tangye, S.G.1
Pillay, B.2
Randall, K.L.3
Avery, D.T.4
Phan, T.G.5
Gray, P.6
Ziegler, J.B.7
Smart, J.M.8
Peake, J.9
Arkwright, P.D.10
-
80
-
-
84919917796
-
TCR and CD28 activate the transcription factor NF-κB in T-cells via distinct adaptor signaling complexes
-
Thaker, Y.R., H. Schneider, and C.E. Rudd. 2015. TCR and CD28 activate the transcription factor NF-κB in T-cells via distinct adaptor signaling complexes. Immunol. Lett. 163:113-119. http://dx.doi.org/10.1016/j.imlet.2014.10.020.
-
(2015)
Immunol. Lett
, vol.163
, pp. 113-119
-
-
Thaker, Y.R.1
Schneider, H.2
Rudd, C.E.3
-
81
-
-
84915745173
-
Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity
-
Torres, J.M., R. Martinez-Barricarte, S. García-Gómez, M.S. Mazariegos, Y. Itan, B. Boisson, R. Rholvarez, A. Jiménez-Reinoso, L. del Pino, R. Rodríguez-Pena, et al. 2014. Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity. J. Clin. Invest. 124:5239-5248. http://dx.doi.org/10.1172/JCI77493.
-
(2014)
J. Clin. Invest
, vol.124
, pp. 5239-5248
-
-
Torres, J.M.1
Martinez-Barricarte, R.2
García-Gómez, S.3
Mazariegos, M.S.4
Itan, Y.5
Boisson, B.6
Rholvarez, R.7
Jiménez-Reinoso, A.8
del Pino, L.9
Rodríguez-Pena, R.10
-
82
-
-
84857800335
-
CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia
-
van Montfrans, J.M., A.I.M. Hoepelman, S. Otto, M. van Gijn, L. van de Corput, R.A. de Weger, L. Monaco-Shawver, P.P. Banerjee, E.A.M. Sanders, C.M. Jol-van der Zijde, et al. 2012. CD27 deficiency is associated with combined immunodeficiency and persistent symptomatic EBV viremia. J. Allergy Clin. Immunol. 129:787-793.e6. http://dx.doi.org/10.1016/j.jaci.2011.11.013.
-
(2012)
J. Allergy Clin. Immunol
, vol.129
, pp. 787-793
-
-
van Montfrans, J.M.1
Hoepelman, A.I.M.2
Otto, S.3
van Gijn, M.4
van de Corput, L.5
de Weger, R.A.6
Monaco-Shawver, L.7
Banerjee, P.P.8
Sanders, E.A.M.9
Jol-van der Zijde, C.M.10
-
83
-
-
0035163909
-
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
-
Wildin, R.S., F. Ramsdell, J. Peake, F. Faravelli, J.L. Casanova, N. Buist, E. Levy-Lahad, M. Mazzella, O. Goulet, L. Perroni, et al. 2001. X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy. Nat. Genet. 27:18-20. http://dx.doi.org/10.1038/83707.
-
(2001)
Nat. Genet
, vol.27
, pp. 18-20
-
-
Wildin, R.S.1
Ramsdell, F.2
Peake, J.3
Faravelli, F.4
Casanova, J.L.5
Buist, N.6
Levy-Lahad, E.7
Mazzella, M.8
Goulet, O.9
Perroni, L.10
-
84
-
-
70949098060
-
Combined immunodeficiency associated with DOCK8 mutations
-
Zhang, Q., J.C. Davis, I.T. Lamborn, A.F. Freeman, H. Jing, A.J. Favreau, H.F. Matthews, J. Davis, M.L. Turner, G. Uzel, et al. 2009. Combined immunodeficiency associated with DOCK8 mutations. N. Engl. J. Med. 361:2046-2055. http://dx.doi.org/10.1056/NEJMoa0905506.
-
(2009)
N. Engl. J. Med
, vol.361
, pp. 2046-2055
-
-
Zhang, Q.1
Davis, J.C.2
Lamborn, I.T.3
Freeman, A.F.4
Jing, H.5
Favreau, A.J.6
Matthews, H.F.7
Davis, J.8
Turner, M.L.9
Uzel, G.10
-
85
-
-
84969930907
-
Recent advances in DOCK8. immunodeficiency syndrome
-
Zhang, Q., H. Jing, and H.C. Su. 2016. Recent advances in DOCK8. immunodeficiency syndrome. J. Clin. Immunol. 36:441-449. http://dx.doi.org/10.1007/s10875-016-0296-z
-
(2016)
J. Clin. Immunol
, vol.36
, pp. 441-449
-
-
Zhang, Q.1
Jing, H.2
Su, H.C.3
-
86
-
-
84873337168
-
An obligate cell-intrinsic function for CD28 in Tregs
-
Zhang, R., A. Huynh, G. Whitcher, J. Chang, J.S. Maltzman, and L.A. Turka. 2013. An obligate cell-intrinsic function for CD28 in Tregs. J. Clin. Invest. 123:580-593. http://dx.doi.org/10.1172/JCI65013.
-
(2013)
J. Clin. Invest
, vol.123
, pp. 580-593
-
-
Zhang, R.1
Huynh, A.2
Whitcher, G.3
Chang, J.4
Maltzman, J.S.5
Turka, L.A.6
-
87
-
-
84941964216
-
Genomics is rapidly advancing precision medicine for immunological disorders
-
Zhang, Y., H.C. Su, and M.J. Lenardo. 2015. Genomics is rapidly advancing precision medicine for immunological disorders. Nat. Immunol. 16:1001-1004. http://dx.doi.org/10.1038/ni.3275.
-
(2015)
Nat. Immunol
, vol.16
, pp. 1001-1004
-
-
Zhang, Y.1
Su, H.C.2
Lenardo, M.J.3
-
88
-
-
84885148208
-
CAR MIL leading edge localization depends on a non-canonical PH domain and dimerization
-
Zwolak, A., C. Yang, E.A. Feeser, E.M. Ostap, T. Svitkina, and R. Dominguez. 2013. CAR MIL leading edge localization depends on a non-canonical PH domain and dimerization. Nat. Commun. 4:2523. http://dx.doi.org/10.1038/ncomms3523.
-
(2013)
Nat. Commun
, vol.4
, pp. 2523
-
-
Zwolak, A.1
Yang, C.2
Feeser, E.A.3
Ostap, E.M.4
Svitkina, T.5
Dominguez, R.6
|