-
1
-
-
33750597717
-
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
-
Rigaud S., Fondanèche M.-C., Lambert N., Pasquier B., Mateo V., Soulas P., Galicier L., Le Deist F., Rieux-Laucat F., Revy P., Fischer A., de Saint-Basile G., Latour S. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature 2006, 444:110-114.
-
(2006)
Nature
, vol.444
, pp. 110-114
-
-
Rigaud, S.1
Fondanèche, M.-C.2
Lambert, N.3
Pasquier, B.4
Mateo, V.5
Soulas, P.6
Galicier, L.7
Le Deist, F.8
Rieux-Laucat, F.9
Revy, P.10
Fischer, A.11
de Saint-Basile, G.12
Latour, S.13
-
2
-
-
13144278345
-
Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome
-
Nichols K.E., Harkin D.P., Levitz S., Krainer M., Kolquist K.A., Genovese C., Bernard A., Ferguson M., Zuo L., Snyder E., Buckler A.J., Wise C., Ashley J., Lovett M., Valentine M.B., Look A.T., Gerald W., Housman D.E., Haber D.A. Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc. Natl. Acad. Sci. U. S. A. 1998, 95:13765-13770.
-
(1998)
Proc. Natl. Acad. Sci. U. S. A.
, vol.95
, pp. 13765-13770
-
-
Nichols, K.E.1
Harkin, D.P.2
Levitz, S.3
Krainer, M.4
Kolquist, K.A.5
Genovese, C.6
Bernard, A.7
Ferguson, M.8
Zuo, L.9
Snyder, E.10
Buckler, A.J.11
Wise, C.12
Ashley, J.13
Lovett, M.14
Valentine, M.B.15
Look, A.T.16
Gerald, W.17
Housman, D.E.18
Haber, D.A.19
-
3
-
-
17344372694
-
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
-
Coffey A.J., Brooksbank R.A., Brandau O., Oohashi T., Howell G.R., Bye J.M., Cahn A.P., Durham J., Heath P., Wray P., Pavitt R., Wilkinson J., Leversha M., Huckle E., Shaw-Smith C.J., Dunham A., Rhodes S., Schuster V., Porta G., Yin L., Serafini P., Sylla B., Zollo M., Franco B., Bolino A., Seri M., Lanyi A., Davis J.R., Webster D., Harris A., Lenoir G., de St Basile G., Jones A., Behloradsky B.H., Achatz H., Murken J., Fassler R., Sumegi J., Romeo G., Vaudin M., Ross M.T., Meindl A., Bentley D.R. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat. Genet. 1998, 20:129-135.
-
(1998)
Nat. Genet.
, vol.20
, pp. 129-135
-
-
Coffey, A.J.1
Brooksbank, R.A.2
Brandau, O.3
Oohashi, T.4
Howell, G.R.5
Bye, J.M.6
Cahn, A.P.7
Durham, J.8
Heath, P.9
Wray, P.10
Pavitt, R.11
Wilkinson, J.12
Leversha, M.13
Huckle, E.14
Shaw-Smith, C.J.15
Dunham, A.16
Rhodes, S.17
Schuster, V.18
Porta, G.19
Yin, L.20
Serafini, P.21
Sylla, B.22
Zollo, M.23
Franco, B.24
Bolino, A.25
Seri, M.26
Lanyi, A.27
Davis, J.R.28
Webster, D.29
Harris, A.30
Lenoir, G.31
de St Basile, G.32
Jones, A.33
Behloradsky, B.H.34
Achatz, H.35
Murken, J.36
Fassler, R.37
Sumegi, J.38
Romeo, G.39
Vaudin, M.40
Ross, M.T.41
Meindl, A.42
Bentley, D.R.43
more..
-
4
-
-
0032190081
-
The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
-
Sayos J., Wu C., Morra M., Wang N., Zhang X., Allen D., van Schaik S., Notarangelo L., Geha R., Roncarolo M.G., Oettgen H., De Vries J.E., Aversa G., Terhorst C. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature 1998, 395:462-469.
-
(1998)
Nature
, vol.395
, pp. 462-469
-
-
Sayos, J.1
Wu, C.2
Morra, M.3
Wang, N.4
Zhang, X.5
Allen, D.6
van Schaik, S.7
Notarangelo, L.8
Geha, R.9
Roncarolo, M.G.10
Oettgen, H.11
De Vries, J.E.12
Aversa, G.13
Terhorst, C.14
-
5
-
-
79551644967
-
XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency
-
Pachlopnik Schmid J., Canioni D., Moshous D., Touzot F., Mahlaoui N., Hauck F., Kanegane H., Lopez-Granados E., Mejstrikova E., Pellier I., Galicier L., Galambrun C., Barlogis V., Bordigoni P., Fourmaintraux A., Hamidou M., Dabadie A., Le Deist F., Haerynck F., Ouachée-Chardin M., Rohrlich P., Stephan J.-L., Lenoir C., Rigaud S., Lambert N., Milili M., Schiff C., Chapel H., Picard C., de Saint-Basile G., Blanche S., Fischer A., Latour S. Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1. Blood 2011, 117:1522-1529.
-
(2011)
Blood
, vol.117
, pp. 1522-1529
-
-
Pachlopnik Schmid, J.1
Canioni, D.2
Moshous, D.3
Touzot, F.4
Mahlaoui, N.5
Hauck, F.6
Kanegane, H.7
Lopez-Granados, E.8
Mejstrikova, E.9
Pellier, I.10
Galicier, L.11
Galambrun, C.12
Barlogis, V.13
Bordigoni, P.14
Fourmaintraux, A.15
Hamidou, M.16
Dabadie, A.17
Le Deist, F.18
Haerynck, F.19
Ouachée-Chardin, M.20
Rohrlich, P.21
Stephan, J.-L.22
Lenoir, C.23
Rigaud, S.24
Lambert, N.25
Milili, M.26
Schiff, C.27
Chapel, H.28
Picard, C.29
de Saint-Basile, G.30
Blanche, S.31
Fischer, A.32
Latour, S.33
more..
-
6
-
-
77956508441
-
XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease
-
Marsh R.A., Madden L., Kitchen B.J., Mody R., McClimon B., Jordan M.B., Bleesing J.J., Zhang K., Filipovich A.H. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood 2010, 116:1079-1082.
-
(2010)
Blood
, vol.116
, pp. 1079-1082
-
-
Marsh, R.A.1
Madden, L.2
Kitchen, B.J.3
Mody, R.4
McClimon, B.5
Jordan, M.B.6
Bleesing, J.J.7
Zhang, K.8
Filipovich, A.H.9
-
7
-
-
78149356369
-
X-linked lymphoproliferative syndromes: brothers or distant cousins?
-
Filipovich A.H., Zhang K., Snow A.L., Marsh R.A. X-linked lymphoproliferative syndromes: brothers or distant cousins?. Blood 2010, 116:3398-3408.
-
(2010)
Blood
, vol.116
, pp. 3398-3408
-
-
Filipovich, A.H.1
Zhang, K.2
Snow, A.L.3
Marsh, R.A.4
-
8
-
-
79251645624
-
Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
-
Worthey E.A., Mayer A.N., Syverson G.D., Helbling D., Bonacci B.B., Decker B., Serpe J.M., Dasu T., Tschannen M.R., Veith R.L., Basehore M.J., Broeckel U., Tomita-Mitchell A., Arca M.J., Casper J.T., Margolis D.A., Bick D.P., Hessner M.J., Routes J.M., Verbsky J.W., Jacob H.J., Dimmock D.P. Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease. Genet. Med. 2011, 13:255-262.
-
(2011)
Genet. Med.
, vol.13
, pp. 255-262
-
-
Worthey, E.A.1
Mayer, A.N.2
Syverson, G.D.3
Helbling, D.4
Bonacci, B.B.5
Decker, B.6
Serpe, J.M.7
Dasu, T.8
Tschannen, M.R.9
Veith, R.L.10
Basehore, M.J.11
Broeckel, U.12
Tomita-Mitchell, A.13
Arca, M.J.14
Casper, J.T.15
Margolis, D.A.16
Bick, D.P.17
Hessner, M.J.18
Routes, J.M.19
Verbsky, J.W.20
Jacob, H.J.21
Dimmock, D.P.22
more..
-
9
-
-
84861478482
-
Clinical and genetic characteristics of XIAP deficiency in Japan
-
Yang X., Kanegane H., Nishida N., Imamura T., Hamamoto K., Miyashita R., Imai K., Nonoyama S., Sanayama K., Yamaide A., Kato F., Nagai K., Ishii E., van Zelm M.C., Latour S., Zhao X.-D., Miyawaki T. Clinical and genetic characteristics of XIAP deficiency in Japan. J. Clin. Immunol. 2012, 32:411-420.
-
(2012)
J. Clin. Immunol.
, vol.32
, pp. 411-420
-
-
Yang, X.1
Kanegane, H.2
Nishida, N.3
Imamura, T.4
Hamamoto, K.5
Miyashita, R.6
Imai, K.7
Nonoyama, S.8
Sanayama, K.9
Yamaide, A.10
Kato, F.11
Nagai, K.12
Ishii, E.13
van Zelm, M.C.14
Latour, S.15
Zhao, X.-D.16
Miyawaki, T.17
-
10
-
-
84873606153
-
Outcome of hematopoietic stem cell transplantation for adenosine deaminase deficient severe combined immunodeficiency
-
Marsh R.A., Rao K., Satwani P., Lehmberg K., Müller I., Li D., Kim M.-O., Fischer A., Latour S., Sedlacek P., Barlogis V., Hamamoto K., Kanegane H., Milanovich S., Margolis D.A., Dimmock D., Casper J., Douglas D.N., Amrolia P.J., Veys P., Kumar A.R., Jordan M.B., Bleesing J.J., Filipovich A.H. Outcome of hematopoietic stem cell transplantation for adenosine deaminase deficient severe combined immunodeficiency. Blood 2012, 121:877-883.
-
(2012)
Blood
, vol.121
, pp. 877-883
-
-
Marsh, R.A.1
Rao, K.2
Satwani, P.3
Lehmberg, K.4
Müller, I.5
Li, D.6
Kim, M.-O.7
Fischer, A.8
Latour, S.9
Sedlacek, P.10
Barlogis, V.11
Hamamoto, K.12
Kanegane, H.13
Milanovich, S.14
Margolis, D.A.15
Dimmock, D.16
Casper, J.17
Douglas, D.N.18
Amrolia, P.J.19
Veys, P.20
Kumar, A.R.21
Jordan, M.B.22
Bleesing, J.J.23
Filipovich, A.H.24
more..
-
11
-
-
84858812138
-
A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes
-
Bryceson Y.T., Pende D., Maul-Pavicic A., Gilmour K.C., Ufheil H., Vraetz T., Chiang S.C., Marcenaro S., Meazza R., Bondzio I., Walshe D., Janka G., Lehmberg K., Beutel K., zur Stadt U., Binder N., Arico M., Moretta L., Henter J.-I., Ehl S. A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood 2012, 119:2754-2763.
-
(2012)
Blood
, vol.119
, pp. 2754-2763
-
-
Bryceson, Y.T.1
Pende, D.2
Maul-Pavicic, A.3
Gilmour, K.C.4
Ufheil, H.5
Vraetz, T.6
Chiang, S.C.7
Marcenaro, S.8
Meazza, R.9
Bondzio, I.10
Walshe, D.11
Janka, G.12
Lehmberg, K.13
Beutel, K.14
zur Stadt, U.15
Binder, N.16
Arico, M.17
Moretta, L.18
Henter, J.-I.19
Ehl, S.20
more..
-
12
-
-
67349171083
-
Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations
-
Marsh R.A., Villanueva J., Kim M.-O., Zhang K., Marmer D., Risma K.A., Jordan M.B., Bleesing J.J., Filipovich A.H. Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations. Clin. Immunol. 2009, 132:116-123.
-
(2009)
Clin. Immunol.
, vol.132
, pp. 116-123
-
-
Marsh, R.A.1
Villanueva, J.2
Kim, M.-O.3
Zhang, K.4
Marmer, D.5
Risma, K.A.6
Jordan, M.B.7
Bleesing, J.J.8
Filipovich, A.H.9
-
13
-
-
79551487087
-
Two new families with X-linked inhibitor of apoptosis deficiency and a review of all 26 published cases
-
Horn P.C., Belohradsky B.H., Urban C., Weber-Mzell D., Meindl A., Schuster V. Two new families with X-linked inhibitor of apoptosis deficiency and a review of all 26 published cases. J. Allergy Clin. Immunol. 2011, 127:544-546.
-
(2011)
J. Allergy Clin. Immunol.
, vol.127
, pp. 544-546
-
-
Horn, P.C.1
Belohradsky, B.H.2
Urban, C.3
Weber-Mzell, D.4
Meindl, A.5
Schuster, V.6
-
14
-
-
79953699947
-
Autoimmunity in primary immune deficiency: taking lessons from our patients
-
Cunningham-Rundles C. Autoimmunity in primary immune deficiency: taking lessons from our patients. Clin. Exp. Immunol. 2011, 164(Suppl. 2):6-11.
-
(2011)
Clin. Exp. Immunol.
, vol.164
, Issue.SUPPL. 2
, pp. 6-11
-
-
Cunningham-Rundles, C.1
-
16
-
-
70949087383
-
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor
-
Glocker E.-O., Kotlarz D., Boztug K., Gertz E.M., Schäffer A.A., Noyan F., Perro M., Diestelhorst J., Allroth A., Murugan D., Hätscher N., Pfeifer D., Sykora K.-W., Sauer M., Kreipe H., Lacher M., Nustede R., Woellner C., Baumann U., Salzer U., Koletzko S., Shah N., Segal A.W., Sauerbrey A., Buderus S., Snapper S.B., Grimbacher B., Klein C. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N. Engl. J. Med. 2009, 361:2033-2045.
-
(2009)
N. Engl. J. Med.
, vol.361
, pp. 2033-2045
-
-
Glocker, E.-O.1
Kotlarz, D.2
Boztug, K.3
Gertz, E.M.4
Schäffer, A.A.5
Noyan, F.6
Perro, M.7
Diestelhorst, J.8
Allroth, A.9
Murugan, D.10
Hätscher, N.11
Pfeifer, D.12
Sykora, K.-W.13
Sauer, M.14
Kreipe, H.15
Lacher, M.16
Nustede, R.17
Woellner, C.18
Baumann, U.19
Salzer, U.20
Koletzko, S.21
Shah, N.22
Segal, A.W.23
Sauerbrey, A.24
Buderus, S.25
Snapper, S.B.26
Grimbacher, B.27
Klein, C.28
more..
-
17
-
-
84855318412
-
IL-10 and IL-10 receptor defects in humans
-
Glocker E.-O., Kotlarz D., Klein C., Shah N., Grimbacher B. IL-10 and IL-10 receptor defects in humans. Ann. N. Y. Acad. Sci. 2011, 1246:102-107.
-
(2011)
Ann. N. Y. Acad. Sci.
, vol.1246
, pp. 102-107
-
-
Glocker, E.-O.1
Kotlarz, D.2
Klein, C.3
Shah, N.4
Grimbacher, B.5
-
18
-
-
0035978651
-
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
-
Hugot J.P., Chamaillard M., Zouali H., Lesage S., Cézard J.P., Belaiche J., Almer S., Tysk C., O'Morain C.A., Gassull M., Binder V., Finkel Y., Cortot A., Modigliani R., Laurent-Puig P., Gower-Rousseau C., Macry J., Colombel J.F., Sahbatou M., Thomas G. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 2001, 411:599-603.
-
(2001)
Nature
, vol.411
, pp. 599-603
-
-
Hugot, J.P.1
Chamaillard, M.2
Zouali, H.3
Lesage, S.4
Cézard, J.P.5
Belaiche, J.6
Almer, S.7
Tysk, C.8
O'Morain, C.A.9
Gassull, M.10
Binder, V.11
Finkel, Y.12
Cortot, A.13
Modigliani, R.14
Laurent-Puig, P.15
Gower-Rousseau, C.16
Macry, J.17
Colombel, J.F.18
Sahbatou, M.19
Thomas, G.20
more..
-
19
-
-
65249170106
-
Crohn's disease-associated Nod2 mutants reduce IL10 transcription
-
Philpott D.J., Girardin S.E. Crohn's disease-associated Nod2 mutants reduce IL10 transcription. Nat. Immunol. 2009, 10:455-457.
-
(2009)
Nat. Immunol.
, vol.10
, pp. 455-457
-
-
Philpott, D.J.1
Girardin, S.E.2
-
20
-
-
65249115914
-
A Crohn's disease-associated NOD2 mutation suppresses transcription of human IL10 by inhibiting activity of the nuclear ribonucleoprotein hnRNP-A1
-
Noguchi E., Homma Y., Kang X., Netea M.G., Ma X. A Crohn's disease-associated NOD2 mutation suppresses transcription of human IL10 by inhibiting activity of the nuclear ribonucleoprotein hnRNP-A1. Nat. Immunol. 2009, 10:471-479.
-
(2009)
Nat. Immunol.
, vol.10
, pp. 471-479
-
-
Noguchi, E.1
Homma, Y.2
Kang, X.3
Netea, M.G.4
Ma, X.5
-
21
-
-
84863000898
-
The ubiquitin ligase XIAP recruits LUBAC for NOD2 signaling in inflammation and innate immunity
-
Damgaard R.B., Nachbur U., Yabal M., Wong W.W.-L., Fiil B.K., Kastirr M., Rieser E., Rickard J.A., Bankovacki A., Peschel C., Ruland J., Bekker-Jensen S., Mailand N., Kaufmann T., Strasser A., Walczak H., Silke J., Jost P.J., Gyrd-Hansen M. The ubiquitin ligase XIAP recruits LUBAC for NOD2 signaling in inflammation and innate immunity. Mol. Cell 2012, 46:746-758.
-
(2012)
Mol. Cell
, vol.46
, pp. 746-758
-
-
Damgaard, R.B.1
Nachbur, U.2
Yabal, M.3
Wong, W.W.-L.4
Fiil, B.K.5
Kastirr, M.6
Rieser, E.7
Rickard, J.A.8
Bankovacki, A.9
Peschel, C.10
Ruland, J.11
Bekker-Jensen, S.12
Mailand, N.13
Kaufmann, T.14
Strasser, A.15
Walczak, H.16
Silke, J.17
Jost, P.J.18
Gyrd-Hansen, M.19
-
22
-
-
84880950097
-
Flow cytometric measurement of SLAM-associated protein and X-linked inhibitor of apoptosis
-
Marsh R.A., Bleesing J.J., Filipovich A.H. Flow cytometric measurement of SLAM-associated protein and X-linked inhibitor of apoptosis. Methods Mol. Biol. 2013, 979:189-197.
-
(2013)
Methods Mol. Biol.
, vol.979
, pp. 189-197
-
-
Marsh, R.A.1
Bleesing, J.J.2
Filipovich, A.H.3
-
23
-
-
77954930632
-
IAPs: from caspase inhibitors to modulators of NF-kappaB, inflammation and cancer
-
Gyrd-Hansen M., Meier P. IAPs: from caspase inhibitors to modulators of NF-kappaB, inflammation and cancer. Nat. Rev. Cancer 2010, 10:561-574.
-
(2010)
Nat. Rev. Cancer
, vol.10
, pp. 561-574
-
-
Gyrd-Hansen, M.1
Meier, P.2
|