-
1
-
-
0028110928
-
Fas and perforin pathways as major mechanisms of T cell-mediated cytotoxicity
-
Kagi D., Vignaux F., Ledermann B., Burki K., Depraetere V., Nagata S., Hengartner H., Golstein P. Fas and perforin pathways as major mechanisms of T cell-mediated cytotoxicity. Science 1994, 265:528-530.
-
(1994)
Science
, vol.265
, pp. 528-530
-
-
Kagi, D.1
Vignaux, F.2
Ledermann, B.3
Burki, K.4
Depraetere, V.5
Nagata, S.6
Hengartner, H.7
Golstein, P.8
-
2
-
-
0027937745
-
Cytolytic T-cell cytotoxicity is mediated through perforin and Fas lytic pathways
-
Lowin B., Hahne M., Mattmann C., Tschopp J. Cytolytic T-cell cytotoxicity is mediated through perforin and Fas lytic pathways. Nature 1994, 370:650-652.
-
(1994)
Nature
, vol.370
, pp. 650-652
-
-
Lowin, B.1
Hahne, M.2
Mattmann, C.3
Tschopp, J.4
-
3
-
-
0025787766
-
Hypercytokinemia in familial hemophagocytic lymphohistiocytosis
-
Henter J.I., Elinder G., Soder O., Hansson M., Andersson B., Andersson U. Hypercytokinemia in familial hemophagocytic lymphohistiocytosis. Blood 1991, 78:2918-2922.
-
(1991)
Blood
, vol.78
, pp. 2918-2922
-
-
Henter, J.I.1
Elinder, G.2
Soder, O.3
Hansson, M.4
Andersson, B.5
Andersson, U.6
-
4
-
-
33845619137
-
HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
-
Henter J.I., Horne A., Arico M., Egeler R.M., Filipovich A.H., Imashuku S., Ladisch S., McClain K., Webb D., Winiarski J., Janka G. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr. Blood Cancer 2007, 48:124-131.
-
(2007)
Pediatr. Blood Cancer
, vol.48
, pp. 124-131
-
-
Henter, J.I.1
Horne, A.2
Arico, M.3
Egeler, R.M.4
Filipovich, A.H.5
Imashuku, S.6
Ladisch, S.7
McClain, K.8
Webb, D.9
Winiarski, J.10
Janka, G.11
-
5
-
-
0033520970
-
Perforin gene defects in familial hemophagocytic lymphohistiocytosis
-
Stepp S.E., Dufourcq-Lagelouse R., Le Deist F., Bhawan S., Certain S., Mathew P.A., Henter J.I., Bennett M., Fischer A., de Saint Basile G., Kumar V. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 1999, 286:1957-1959.
-
(1999)
Science
, vol.286
, pp. 1957-1959
-
-
Stepp, S.E.1
Dufourcq-Lagelouse, R.2
Le Deist, F.3
Bhawan, S.4
Certain, S.5
Mathew, P.A.6
Henter, J.I.7
Bennett, M.8
Fischer, A.9
de Saint Basile, G.10
Kumar, V.11
-
6
-
-
0029025441
-
Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome
-
Fisher G.H., Rosenberg F.J., Straus S.E., Dale J.K., Middleton L.A., Lin A.Y., Strober W., Lenardo M.J., Puck J.M. Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome. Cell 1995, 81:935-946.
-
(1995)
Cell
, vol.81
, pp. 935-946
-
-
Fisher, G.H.1
Rosenberg, F.J.2
Straus, S.E.3
Dale, J.K.4
Middleton, L.A.5
Lin, A.Y.6
Strober, W.7
Lenardo, M.J.8
Puck, J.M.9
-
7
-
-
77957746866
-
Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop
-
Oliveira J.B., Bleesing J.J., Dianzani U., Fleisher T.A., Jaffe E.S., Lenardo M.J., Rieux-Laucat F., Siegel R.M., Su H.C., Teachey D.T., Rao V.K. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood 2010, 116:e35-e40.
-
(2010)
Blood
, vol.116
-
-
Oliveira, J.B.1
Bleesing, J.J.2
Dianzani, U.3
Fleisher, T.A.4
Jaffe, E.S.5
Lenardo, M.J.6
Rieux-Laucat, F.7
Siegel, R.M.8
Su, H.C.9
Teachey, D.T.10
Rao, V.K.11
-
8
-
-
10744224641
-
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3)
-
Feldmann J., Callebaut I., Raposo G., Certain S., Bacq D., Dumont C., Lambert N., Ouachee-Chardin M., Chedeville G., Tamary H., Minard-Colin V., Vilmer E., Blanche S., Le Deist F., Fischer A., de Saint Basile G. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell 2003, 115:461-473.
-
(2003)
Cell
, vol.115
, pp. 461-473
-
-
Feldmann, J.1
Callebaut, I.2
Raposo, G.3
Certain, S.4
Bacq, D.5
Dumont, C.6
Lambert, N.7
Ouachee-Chardin, M.8
Chedeville, G.9
Tamary, H.10
Minard-Colin, V.11
Vilmer, E.12
Blanche, S.13
Le Deist, F.14
Fischer, A.15
de Saint Basile, G.16
-
9
-
-
20144363940
-
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11
-
zur Stadt U., Schmidt S., Kasper B., Beutel K., Diler A.S., Henter J.I., Kabisch H., Schneppenheim R., Nurnberg P., Janka G., Hennies H.C. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum. Mol. Genet. 2005, 14:827-834.
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 827-834
-
-
zur Stadt, U.1
Schmidt, S.2
Kasper, B.3
Beutel, K.4
Diler, A.S.5
Henter, J.I.6
Kabisch, H.7
Schneppenheim, R.8
Nurnberg, P.9
Janka, G.10
Hennies, H.C.11
-
10
-
-
70350500464
-
Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11
-
zur Stadt U., Rohr J., Seifert W., Koch F., Grieve S., Pagel J., Strauss J., Kasper B., Nurnberg G., Becker C., Maul-Pavicic A., Beutel K., Janka G., Griffiths G., Ehl S., Hennies H.C. Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11. Am. J. Hum. Genet. 2009, 85:482-492.
-
(2009)
Am. J. Hum. Genet.
, vol.85
, pp. 482-492
-
-
zur Stadt, U.1
Rohr, J.2
Seifert, W.3
Koch, F.4
Grieve, S.5
Pagel, J.6
Strauss, J.7
Kasper, B.8
Nurnberg, G.9
Becker, C.10
Maul-Pavicic, A.11
Beutel, K.12
Janka, G.13
Griffiths, G.14
Ehl, S.15
Hennies, H.C.16
-
11
-
-
72849125357
-
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells
-
Cote M., Menager M.M., Burgess A., Mahlaoui N., Picard C., Schaffner C., Al-Manjomi F., Al-Harbi M., Alangari A., Le Deist F., Gennery A.R., Prince N., Cariou A., Nitschke P., Blank U., El-Ghazali G., Menasche G., Latour S., Fischer A., de Saint Basile G. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J. Clin. Investig. 2009, 119:3765-3773.
-
(2009)
J. Clin. Investig.
, vol.119
, pp. 3765-3773
-
-
Cote, M.1
Menager, M.M.2
Burgess, A.3
Mahlaoui, N.4
Picard, C.5
Schaffner, C.6
Al-Manjomi, F.7
Al-Harbi, M.8
Alangari, A.9
Le Deist, F.10
Gennery, A.R.11
Prince, N.12
Cariou, A.13
Nitschke, P.14
Blank, U.15
El-Ghazali, G.16
Menasche, G.17
Latour, S.18
Fischer, A.19
de Saint Basile, G.20
more..
-
12
-
-
34548814973
-
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients
-
Bryceson Y.T., Rudd E., Zheng C., Edner J., Ma D., Wood S.M., Bechensteen A.G., Boelens J.J., Celkan T., Farah R.A., Hultenby K., Winiarski J., Roche P.A., Nordenskjold M., Henter J.I., Long E.O., Ljunggren H.G. Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood 2007, 110:1906-1915.
-
(2007)
Blood
, vol.110
, pp. 1906-1915
-
-
Bryceson, Y.T.1
Rudd, E.2
Zheng, C.3
Edner, J.4
Ma, D.5
Wood, S.M.6
Bechensteen, A.G.7
Boelens, J.J.8
Celkan, T.9
Farah, R.A.10
Hultenby, K.11
Winiarski, J.12
Roche, P.A.13
Nordenskjold, M.14
Henter, J.I.15
Long, E.O.16
Ljunggren, H.G.17
-
13
-
-
84874436476
-
Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production
-
Chiang S.C., Theorell J., Entesarian M., Meeths M., Mastafa M., Al-Herz W., Frisk P., Gilmour K.C., Ifversen M., Langenskiold C., Machaczka M., Naqvi A., Payne J., Perez-Martinez A., Sabel M., Unal E., Unal S., Winiarski J., Nordenskjold M., Ljunggren H.G., Henter J.I., Bryceson Y.T. Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production. Blood 2013, 121:1345-1356.
-
(2013)
Blood
, vol.121
, pp. 1345-1356
-
-
Chiang, S.C.1
Theorell, J.2
Entesarian, M.3
Meeths, M.4
Mastafa, M.5
Al-Herz, W.6
Frisk, P.7
Gilmour, K.C.8
Ifversen, M.9
Langenskiold, C.10
Machaczka, M.11
Naqvi, A.12
Payne, J.13
Perez-Martinez, A.14
Sabel, M.15
Unal, E.16
Unal, S.17
Winiarski, J.18
Nordenskjold, M.19
Ljunggren, H.G.20
Henter, J.I.21
Bryceson, Y.T.22
more..
-
14
-
-
0344002689
-
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
-
Menasche G., Pastural E., Feldmann J., Certain S., Ersoy F., Dupuis S., Wulffraat N., Bianchi D., Fischer A., Le Deist F., de Saint Basile G. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat.Genet. 2000, 25:173-176.
-
(2000)
Nat.Genet.
, vol.25
, pp. 173-176
-
-
Menasche, G.1
Pastural, E.2
Feldmann, J.3
Certain, S.4
Ersoy, F.5
Dupuis, S.6
Wulffraat, N.7
Bianchi, D.8
Fischer, A.9
Le Deist, F.10
de Saint Basile, G.11
-
15
-
-
15844397403
-
Identification of the homologous beige and Chediak-Higashi syndrome genes
-
Barbosa M.D., Nguyen Q.A., Tchernev V.T., Ashley J.A., Detter J.C., Blaydes S.M., Brandt S.J., Chotai D., Hodgman C., Solari R.C., Lovett M., Kingsmore S.F. Identification of the homologous beige and Chediak-Higashi syndrome genes. Nature 1996, 382:262-265.
-
(1996)
Nature
, vol.382
, pp. 262-265
-
-
Barbosa, M.D.1
Nguyen, Q.A.2
Tchernev, V.T.3
Ashley, J.A.4
Detter, J.C.5
Blaydes, S.M.6
Brandt, S.J.7
Chotai, D.8
Hodgman, C.9
Solari, R.C.10
Lovett, M.11
Kingsmore, S.F.12
-
16
-
-
0018868919
-
A new immunodeficiency disorder in humans involving NK cells
-
Roder J.C., Haliotis T., Klein M., Korec S., Jett J.R., Ortaldo J., Heberman R.B., Katz P., Fauci A.S. A new immunodeficiency disorder in humans involving NK cells. Nature 1980, 284:553-555.
-
(1980)
Nature
, vol.284
, pp. 553-555
-
-
Roder, J.C.1
Haliotis, T.2
Klein, M.3
Korec, S.4
Jett, J.R.5
Ortaldo, J.6
Heberman, R.B.7
Katz, P.8
Fauci, A.S.9
-
17
-
-
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..
-
18
-
-
33750597717
-
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
-
Rigaud S., Fondaneche 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
Fondaneche, 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
-
19
-
-
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..
-
20
-
-
0021270576
-
Cytolytic T cell granules. Isolation, structural, biochemical, and functional characterization
-
Podack E.R., Konigsberg P.J. Cytolytic T cell granules. Isolation, structural, biochemical, and functional characterization. J. Exp. Med. 1984, 160:695-710.
-
(1984)
J. Exp. Med.
, vol.160
, pp. 695-710
-
-
Podack, E.R.1
Konigsberg, P.J.2
-
21
-
-
84876174174
-
Perforin forms transient pores on the target cell plasma membrane to facilitate rapid access of granzymes during killer cell attack
-
Lopez J.A., Susanto O., Jenkins M.R., Lukoyanova N., Sutton V.R., Law R.H., Johnston A., Bird C.H., Bird P.I., Whisstock J.C., Trapani J.A., Saibil H.R., Voskoboinik I. Perforin forms transient pores on the target cell plasma membrane to facilitate rapid access of granzymes during killer cell attack. Blood 2013, 121:2659-2668.
-
(2013)
Blood
, vol.121
, pp. 2659-2668
-
-
Lopez, J.A.1
Susanto, O.2
Jenkins, M.R.3
Lukoyanova, N.4
Sutton, V.R.5
Law, R.H.6
Johnston, A.7
Bird, C.H.8
Bird, P.I.9
Whisstock, J.C.10
Trapani, J.A.11
Saibil, H.R.12
Voskoboinik, I.13
-
22
-
-
84886817310
-
Surface CD107a/LAMP-1 protects natural killer cells from degranulation-associated damage
-
Cohnen A., Chiang S.C., Stojanovic A., Schmidt H., Claus M., Saftig P., Janssen O., Cerwenka A., Bryceson Y.T., Watzl C. Surface CD107a/LAMP-1 protects natural killer cells from degranulation-associated damage. Blood 2013, 122:1411-1418.
-
(2013)
Blood
, vol.122
, pp. 1411-1418
-
-
Cohnen, A.1
Chiang, S.C.2
Stojanovic, A.3
Schmidt, H.4
Claus, M.5
Saftig, P.6
Janssen, O.7
Cerwenka, A.8
Bryceson, Y.T.9
Watzl, C.10
-
23
-
-
0036779576
-
Functional significance of the perforin/granzyme cell death pathway
-
Trapani J.A., Smyth M.J. Functional significance of the perforin/granzyme cell death pathway. Nat. Rev. Immunol. 2002, 2:735-747.
-
(2002)
Nat. Rev. Immunol.
, vol.2
, pp. 735-747
-
-
Trapani, J.A.1
Smyth, M.J.2
-
24
-
-
84892143506
-
Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice
-
Jessen B., Kogl T., Sepulveda F.E., de Saint Basile G., Aichele P., Ehl S. Graded defects in cytotoxicity determine severity of hemophagocytic lymphohistiocytosis in humans and mice. Front. Immunol. 2013, 4:448.
-
(2013)
Front. Immunol.
, vol.4
, pp. 448
-
-
Jessen, B.1
Kogl, T.2
Sepulveda, F.E.3
de Saint Basile, G.4
Aichele, P.5
Ehl, S.6
-
25
-
-
0242539818
-
Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse
-
Clark R.H., Stinchcombe J.C., Day A., Blott E., Booth S., Bossi G., Hamblin T., Davies E.G., Griffiths G.M. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nat. Immunol. 2003, 4:1111-1120.
-
(2003)
Nat. Immunol.
, vol.4
, pp. 1111-1120
-
-
Clark, R.H.1
Stinchcombe, J.C.2
Day, A.3
Blott, E.4
Booth, S.5
Bossi, G.6
Hamblin, T.7
Davies, E.G.8
Griffiths, G.M.9
-
26
-
-
84860330652
-
Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex
-
Kurowska M., Goudin N., Nehme N.T., Court M., Garin J., Fischer A., de Saint Basile G., Menasche G. Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex. Blood 2012, 119:3879-3889.
-
(2012)
Blood
, vol.119
, pp. 3879-3889
-
-
Kurowska, M.1
Goudin, N.2
Nehme, N.T.3
Court, M.4
Garin, J.5
Fischer, A.6
de Saint Basile, G.7
Menasche, G.8
-
27
-
-
34247880547
-
Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4
-
Menager M.M., Menasche G., Romao M., Knapnougel P., Ho C.H., Garfa M., Raposo G., Feldmann J., Fischer A., de Saint Basile G. Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4. Nat. Immunol. 2007, 8:257-267.
-
(2007)
Nat. Immunol.
, vol.8
, pp. 257-267
-
-
Menager, M.M.1
Menasche, G.2
Romao, M.3
Knapnougel, P.4
Ho, C.H.5
Garfa, M.6
Raposo, G.7
Feldmann, J.8
Fischer, A.9
de Saint Basile, G.10
-
28
-
-
72949100151
-
Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity
-
Wood S.M., Meeths M., Chiang S.C., Bechensteen A.G., Boelens J.J., Heilmann C., Horiuchi H., Rosthoj S., Rutynowska O., Winiarski J., Stow J.L., Nordenskjold M., Henter J.I., Ljunggren H.G., Bryceson Y.T. Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. Blood 2009, 114:4117-4127.
-
(2009)
Blood
, vol.114
, pp. 4117-4127
-
-
Wood, S.M.1
Meeths, M.2
Chiang, S.C.3
Bechensteen, A.G.4
Boelens, J.J.5
Heilmann, C.6
Horiuchi, H.7
Rosthoj, S.8
Rutynowska, O.9
Winiarski, J.10
Stow, J.L.11
Nordenskjold, M.12
Henter, J.I.13
Ljunggren, H.G.14
Bryceson, Y.T.15
-
29
-
-
84893617834
-
Syntaxin11 serves as a t-SNARE for the fusion of lytic granules in human cytotoxic T lymphocytes
-
Halimani M., Pattu V., Marshall M.R., Chang H.F., Matti U., Jung M., Becherer U., Krause E., Hoth M., Schwarz E.C., Rettig J. Syntaxin11 serves as a t-SNARE for the fusion of lytic granules in human cytotoxic T lymphocytes. Eur. J. Immunol. 2014, 44:573-584.
-
(2014)
Eur. J. Immunol.
, vol.44
, pp. 573-584
-
-
Halimani, M.1
Pattu, V.2
Marshall, M.R.3
Chang, H.F.4
Matti, U.5
Jung, M.6
Becherer, U.7
Krause, E.8
Hoth, M.9
Schwarz, E.C.10
Rettig, J.11
-
30
-
-
84888110341
-
Syntaxin binding mechanism and disease-causing mutations in Munc18-2
-
Hackmann Y., Graham S.C., Ehl S., Honing S., Lehmberg K., Arico M., Owen D.J., Griffiths G.M. Syntaxin binding mechanism and disease-causing mutations in Munc18-2. Proc. Natl. Acad. Sci. U S A 2013, 110:E4482-4491.
-
(2013)
Proc. Natl. Acad. Sci. U S A
, vol.110
-
-
Hackmann, Y.1
Graham, S.C.2
Ehl, S.3
Honing, S.4
Lehmberg, K.5
Arico, M.6
Owen, D.J.7
Griffiths, G.M.8
-
31
-
-
84987800370
-
An N-terminal missense mutation in STX11 causative of FHL4 abrogates syntaxin-11 binding to Munc18-2
-
Müller M.L., Chiang S.C., Meeths M., Tesi B., Entesarian M., Nilsson D., Wood S.M., Nordenskjold M., Henter J.I., Naqvi A., Bryceson.Y.T. An N-terminal missense mutation in STX11 causative of FHL4 abrogates syntaxin-11 binding to Munc18-2. Front. Immunol. 2014, 5(4):e515.
-
(2014)
Front. Immunol.
, vol.5
, Issue.4
-
-
Müller, M.L.1
Chiang, S.C.2
Meeths, M.3
Tesi, B.4
Entesarian, M.5
Nilsson, D.6
Wood, S.M.7
Nordenskjold, M.8
Henter, J.I.9
Naqvi, A.10
Bryceson, Y.T.11
-
32
-
-
84872438906
-
Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effectors PRF1, RAB27A, and STX11
-
Sepulveda F.E., Debeurme F., Menasche G., Kurowska M., Cote M., Pachlopnik Schmid J., Fischer A., de Saint Basile G. Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effectors PRF1, RAB27A, and STX11. Blood 2013, 121:595-603.
-
(2013)
Blood
, vol.121
, pp. 595-603
-
-
Sepulveda, F.E.1
Debeurme, F.2
Menasche, G.3
Kurowska, M.4
Cote, M.5
Pachlopnik Schmid, J.6
Fischer, A.7
de Saint Basile, G.8
-
33
-
-
73249140312
-
A role for endobrevin/VAMP8 in CTL lytic granule exocytosis
-
Loo L.S., Hwang L.A., Ong Y.M., Tay H.S., Wang C.C., Hong W. A role for endobrevin/VAMP8 in CTL lytic granule exocytosis. Eur. J. Immunol. 2009, 39:3520-3528.
-
(2009)
Eur. J. Immunol.
, vol.39
, pp. 3520-3528
-
-
Loo, L.S.1
Hwang, L.A.2
Ong, Y.M.3
Tay, H.S.4
Wang, C.C.5
Hong, W.6
-
34
-
-
77955507742
-
The exocytosis of lytic granules is impaired in Vti1b- or Vamp8-deficient CTL leading to a reduced cytotoxic activity following antigen-specific activation
-
Dressel R., Elsner L., Novota P., Kanwar N., Fischer von Mollard G. The exocytosis of lytic granules is impaired in Vti1b- or Vamp8-deficient CTL leading to a reduced cytotoxic activity following antigen-specific activation. J. Immunol. 2010, 185:1005-1014.
-
(2010)
J. Immunol.
, vol.185
, pp. 1005-1014
-
-
Dressel, R.1
Elsner, L.2
Novota, P.3
Kanwar, N.4
Fischer von Mollard, G.5
-
35
-
-
84874629394
-
Synaptobrevin2 is the v-SNARE required for cytotoxic T-lymphocyte lytic granule fusion
-
Matti U., Pattu V., Halimani M., Schirra C., Krause E., Liu Y., Weins L., Chang H.F., Guzman R., Olausson J., Freichel M., Schmitz F., Pasche M., Becherer U., Bruns D., Rettig J. Synaptobrevin2 is the v-SNARE required for cytotoxic T-lymphocyte lytic granule fusion. Nat. Commun. 2013, 4:1439.
-
(2013)
Nat. Commun.
, vol.4
, pp. 1439
-
-
Matti, U.1
Pattu, V.2
Halimani, M.3
Schirra, C.4
Krause, E.5
Liu, Y.6
Weins, L.7
Chang, H.F.8
Guzman, R.9
Olausson, J.10
Freichel, M.11
Schmitz, F.12
Pasche, M.13
Becherer, U.14
Bruns, D.15
Rettig, J.16
-
36
-
-
3242752040
-
An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder
-
Jordan M.B., Hildeman D., Kappler J., Marrack P. An animal model of hemophagocytic lymphohistiocytosis (HLH): CD8+ T cells and interferon gamma are essential for the disorder. Blood 2004, 104:735-743.
-
(2004)
Blood
, vol.104
, pp. 735-743
-
-
Jordan, M.B.1
Hildeman, D.2
Kappler, J.3
Marrack, P.4
-
37
-
-
79959242566
-
Disruption of MyD88 signaling suppresses hemophagocytic lymphohistiocytosis in mice
-
Krebs P., Crozat K., Popkin D., Oldstone M.B., Beutler B. Disruption of MyD88 signaling suppresses hemophagocytic lymphohistiocytosis in mice. Blood 2011, 117:6582-6588.
-
(2011)
Blood
, vol.117
, pp. 6582-6588
-
-
Krebs, P.1
Crozat, K.2
Popkin, D.3
Oldstone, M.B.4
Beutler, B.5
-
38
-
-
79958292813
-
Hemophagocytosis causes a consumptive anemia of inflammation
-
Zoller E.E., Lykens J.E., Terrell C.E., Aliberti J., Filipovich A.H., Henson P.M., Jordan M.B. Hemophagocytosis causes a consumptive anemia of inflammation. J. Exp. Med. 2011, 208:1203-1214.
-
(2011)
J. Exp. Med.
, vol.208
, pp. 1203-1214
-
-
Zoller, E.E.1
Lykens, J.E.2
Terrell, C.E.3
Aliberti, J.4
Filipovich, A.H.5
Henson, P.M.6
Jordan, M.B.7
-
39
-
-
84879876563
-
Interferon-gamma mediates anemia but is dispensable for fulminant toll-like receptor 9-induced macrophage activation syndrome and hemophagocytosis in mice
-
Canna S.W., Wrobel J., Chu N., Kreiger P.A., Paessler M., Behrens E.M. Interferon-gamma mediates anemia but is dispensable for fulminant toll-like receptor 9-induced macrophage activation syndrome and hemophagocytosis in mice. Arthritis Rheumatol. 2013, 65:1764-1775.
-
(2013)
Arthritis Rheumatol.
, vol.65
, pp. 1764-1775
-
-
Canna, S.W.1
Wrobel, J.2
Chu, N.3
Kreiger, P.A.4
Paessler, M.5
Behrens, E.M.6
-
40
-
-
33846238173
-
Perforin and granzymes have distinct roles in defensive immunity and immunopathology
-
van Dommelen S.L., Sumaria N., Schreiber R.D., Scalzo A.A., Smyth M.J., Degli-Esposti M.A. Perforin and granzymes have distinct roles in defensive immunity and immunopathology. Immunity 2006, 25:835-848.
-
(2006)
Immunity
, vol.25
, pp. 835-848
-
-
van Dommelen, S.L.1
Sumaria, N.2
Schreiber, R.D.3
Scalzo, A.A.4
Smyth, M.J.5
Degli-Esposti, M.A.6
-
41
-
-
80055087431
-
Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome
-
Jessen B., Maul-Pavicic A., Ufheil H., Vraetz T., Enders A., Lehmberg K., Längler A., Gross-Wieltsch U., Bay A., Kaya Z., Bryceson Y.T., Koscielinak E., Badaway S., Davies G., Schmitt-Gräff A., Aichele P., zur Stadt U., Schwarz K., Ehl S. Subtle differences in CTL cytotoxicity determine susceptibility to hemophagocytic lymphohistiocytosis in mice and humans with Chediak-Higashi syndrome. Blood 2011, 118:4620-4629.
-
(2011)
Blood
, vol.118
, pp. 4620-4629
-
-
Jessen, B.1
Maul-Pavicic, A.2
Ufheil, H.3
Vraetz, T.4
Enders, A.5
Lehmberg, K.6
Längler, A.7
Gross-Wieltsch, U.8
Bay, A.9
Kaya, Z.10
Bryceson, Y.T.11
Koscielinak, E.12
Badaway, S.13
Davies, G.14
Schmitt-Gräff, A.15
Aichele, P.16
zur Stadt, U.17
Schwarz, K.18
Ehl, S.19
-
42
-
-
84855999478
-
Natural killer cells act as rheostats modulating antiviral T cells
-
Waggoner S.N., Cornberg M., Selin L.K., Welsh R.M. Natural killer cells act as rheostats modulating antiviral T cells. Nature 2012, 481:394-398.
-
(2012)
Nature
, vol.481
, pp. 394-398
-
-
Waggoner, S.N.1
Cornberg, M.2
Selin, L.K.3
Welsh, R.M.4
-
43
-
-
0026061971
-
Incidence in Sweden and clinical features of familial hemophagocytic lymphohistiocytosis
-
Henter J.I., Elinder G., Soder O., Ost A. Incidence in Sweden and clinical features of familial hemophagocytic lymphohistiocytosis. Acta Paediatr. Scand. 1991, 80:428-435.
-
(1991)
Acta Paediatr. Scand.
, vol.80
, pp. 428-435
-
-
Henter, J.I.1
Elinder, G.2
Soder, O.3
Ost, A.4
-
44
-
-
84862249006
-
Newborn screening for severe combined immunodeficiency: the Wisconsin experience (2008-2011)
-
Verbsky J.W., Baker M.W., Grossman W.J., Hintermeyer M., Dasu T., Bonacci B., Reddy S., Margolis D., Casper J., Gries M., Desantes K., Hoffman G.L., Brokopp C.D., Seroogy C.M., Routes J.M. Newborn screening for severe combined immunodeficiency: the Wisconsin experience (2008-2011). J. Clin. Immunol. 2012, 32:82-88.
-
(2012)
J. Clin. Immunol.
, vol.32
, pp. 82-88
-
-
Verbsky, J.W.1
Baker, M.W.2
Grossman, W.J.3
Hintermeyer, M.4
Dasu, T.5
Bonacci, B.6
Reddy, S.7
Margolis, D.8
Casper, J.9
Gries, M.10
Desantes, K.11
Hoffman, G.L.12
Brokopp, C.D.13
Seroogy, C.M.14
Routes, J.M.15
-
45
-
-
51249096022
-
Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis
-
Horne A., Ramme K.G., Rudd E., Zheng C., Wali Y., al-Lamki Z., Gurgey A., Yalman N., Nordenskjold M., Henter J.I. Characterization of PRF1, STX11 and UNC13D genotype-phenotype correlations in familial hemophagocytic lymphohistiocytosis. Br. J. Haematol. 2008, 143:75-83.
-
(2008)
Br. J. Haematol.
, vol.143
, pp. 75-83
-
-
Horne, A.1
Ramme, K.G.2
Rudd, E.3
Zheng, C.4
Wali, Y.5
al-Lamki, Z.6
Gurgey, A.7
Yalman, N.8
Nordenskjold, M.9
Henter, J.I.10
-
46
-
-
79955540994
-
Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3
-
Sieni E., Cetica V., Santoro A., Beutel K., Mastrodicasa E., Meeths M., Ciambotti B., Brugnolo F., zur Stadt U., Pende D., Moretta L., Griffiths G.M., Henter J.I., Janka G., Arico M. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3. J. Med. Genet. 2011, 48:343-352.
-
(2011)
J. Med. Genet.
, vol.48
, pp. 343-352
-
-
Sieni, E.1
Cetica, V.2
Santoro, A.3
Beutel, K.4
Mastrodicasa, E.5
Meeths, M.6
Ciambotti, B.7
Brugnolo, F.8
zur Stadt, U.9
Pende, D.10
Moretta, L.11
Griffiths, G.M.12
Henter, J.I.13
Janka, G.14
Arico, M.15
-
47
-
-
82155184541
-
Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial hemophagocytic lymphohistiocytosis
-
Zhang K., Jordan M.B., Marsh R.A., Johnson J.A., Kissell D., Meller J., Villanueva J., Risma K.A., Wei Q., Klein P.S., Filipovich A.H. Hypomorphic mutations in PRF1, MUNC13-4, and STXBP2 are associated with adult-onset familial hemophagocytic lymphohistiocytosis. Blood 2011, 118:5794-5798.
-
(2011)
Blood
, vol.118
, pp. 5794-5798
-
-
Zhang, K.1
Jordan, M.B.2
Marsh, R.A.3
Johnson, J.A.4
Kissell, D.5
Meller, J.6
Villanueva, J.7
Risma, K.A.8
Wei, Q.9
Klein, P.S.10
Filipovich, A.H.11
-
48
-
-
77957954413
-
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis (FHL) type 5 patients with mutations in STXBP2
-
Meeths M., Entesarian M., Al-Herz W., Chiang S.C., Wood S.M., Al-Ateeqi W., Almazan F., Boelens J.J., Hasle H., Ifversen M., Lund B., van den Berg J.M., Gustafsson B., Hjelmqvist H., Nordenskjold M., Bryceson Y.T., Henter J.I. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis (FHL) type 5 patients with mutations in STXBP2. Blood 2010, 116:2635-2643.
-
(2010)
Blood
, vol.116
, pp. 2635-2643
-
-
Meeths, M.1
Entesarian, M.2
Al-Herz, W.3
Chiang, S.C.4
Wood, S.M.5
Al-Ateeqi, W.6
Almazan, F.7
Boelens, J.J.8
Hasle, H.9
Ifversen, M.10
Lund, B.11
van den Berg, J.M.12
Gustafsson, B.13
Hjelmqvist, H.14
Nordenskjold, M.15
Bryceson, Y.T.16
Henter, J.I.17
-
49
-
-
67649836342
-
Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer
-
Chia J., Yeo K.P., Whisstock J.C., Dunstone M.A., Trapani J.A., Voskoboinik I. Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer. Proc. Natl. Acad. Sci. U S A 2009, 106:9809-9814.
-
(2009)
Proc. Natl. Acad. Sci. U S A
, vol.106
, pp. 9809-9814
-
-
Chia, J.1
Yeo, K.P.2
Whisstock, J.C.3
Dunstone, M.A.4
Trapani, J.A.5
Voskoboinik, I.6
-
50
-
-
84891505988
-
Mixed hematopoietic or T-cell chimerism above a minimal threshold restores perforin-dependent immune regulation in perforin-deficient mice
-
Terrell C.E., Jordan M.B. Mixed hematopoietic or T-cell chimerism above a minimal threshold restores perforin-dependent immune regulation in perforin-deficient mice. Blood 2013, 122:2618-2621.
-
(2013)
Blood
, vol.122
, pp. 2618-2621
-
-
Terrell, C.E.1
Jordan, M.B.2
-
51
-
-
79953059789
-
Natural innate and adaptive immunity to cancer
-
Vesely M.D., Kershaw M.H., Schreiber R.D., Smyth M.J. Natural innate and adaptive immunity to cancer. Annu. Rev. Immunol. 2011, 29:235-271.
-
(2011)
Annu. Rev. Immunol.
, vol.29
, pp. 235-271
-
-
Vesely, M.D.1
Kershaw, M.H.2
Schreiber, R.D.3
Smyth, M.J.4
-
52
-
-
0034605122
-
Perforin-mediated cytotoxicity is critical for surveillance of spontaneous lymphoma
-
Smyth M.J., Thia K.Y., Street S.E., MacGregor D., Godfrey D.I., Trapani J.A. Perforin-mediated cytotoxicity is critical for surveillance of spontaneous lymphoma. J. Exp. Med. 2000, 192:755-760.
-
(2000)
J. Exp. Med.
, vol.192
, pp. 755-760
-
-
Smyth, M.J.1
Thia, K.Y.2
Street, S.E.3
MacGregor, D.4
Godfrey, D.I.5
Trapani, J.A.6
-
53
-
-
21144435788
-
A proportion of patients with lymphoma may harbor mutations of the perforin gene
-
Clementi R., Locatelli F., Dupre L., Garaventa A., Emmi L., Bregni M., Cefalo G., Moretta A., Danesino C., Comis M., Pession A., Ramenghi U., Maccario R., Arico M., Roncarolo M.G. A proportion of patients with lymphoma may harbor mutations of the perforin gene. Blood 2005, 105:4424-4428.
-
(2005)
Blood
, vol.105
, pp. 4424-4428
-
-
Clementi, R.1
Locatelli, F.2
Dupre, L.3
Garaventa, A.4
Emmi, L.5
Bregni, M.6
Cefalo, G.7
Moretta, A.8
Danesino, C.9
Comis, M.10
Pession, A.11
Ramenghi, U.12
Maccario, R.13
Arico, M.14
Roncarolo, M.G.15
-
54
-
-
84862749911
-
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lmphohistiocytosis type 5 (FHL5)
-
Pagel J., Beutel K., Lehmberg K., Koch F., Maul-Pavicic A., Rohlfs A.K., Al-Jefri A., Beier R., Bomme Ousager L., Ehlert K., Gross-Wieltsch U., Jorch N., Kremens B., Pekrun A., Sparber-Sauer M., Mejstrikova E., Wawer A., Ehl S., Zur Stadt U., Janka G. Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lmphohistiocytosis type 5 (FHL5). Blood 2012, 119:6016-6024.
-
(2012)
Blood
, vol.119
, pp. 6016-6024
-
-
Pagel, J.1
Beutel, K.2
Lehmberg, K.3
Koch, F.4
Maul-Pavicic, A.5
Rohlfs, A.K.6
Al-Jefri, A.7
Beier, R.8
Bomme Ousager, L.9
Ehlert, K.10
Gross-Wieltsch, U.11
Jorch, N.12
Kremens, B.13
Pekrun, A.14
Sparber-Sauer, M.15
Mejstrikova, E.16
Wawer, A.17
Ehl, S.18
Zur Stadt, U.19
Janka, G.20
more..
-
55
-
-
84877057853
-
Development of classical Hodgkin[U+05F3]s lymphoma in an adult with biallelic STXBP2 mutations
-
Machaczka M., Klimkowska M., Chiang S.C., Meeths M., Muller M.L., Gustafsson B., Henter J.I., Bryceson Y.T. Development of classical Hodgkin[U+05F3]s lymphoma in an adult with biallelic STXBP2 mutations. Haematologica 2013, 98:760-764.
-
(2013)
Haematologica
, vol.98
, pp. 760-764
-
-
Machaczka, M.1
Klimkowska, M.2
Chiang, S.C.3
Meeths, M.4
Muller, M.L.5
Gustafsson, B.6
Henter, J.I.7
Bryceson, Y.T.8
-
56
-
-
33745052933
-
Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies
-
Rudd E., Goransdotter Ericson K., Zheng C., Uysal Z., Ozkan A., Gurgey A., Fadeel B., Nordenskjold M., Henter J.I. Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies. J. Med. Genet. 2006, 43:e14.
-
(2006)
J. Med. Genet.
, vol.43
-
-
Rudd, E.1
Goransdotter Ericson, K.2
Zheng, C.3
Uysal, Z.4
Ozkan, A.5
Gurgey, A.6
Fadeel, B.7
Nordenskjold, M.8
Henter, J.I.9
-
57
-
-
84881504826
-
Clinical characteristics and outcomes of chediak-Higashi syndrome: a nationwide survey of Japan
-
Nagai K., Ochi F., Terui K., Maeda M., Ohga S., Kanegane H., Kitoh T., Kogawa K., Suzuki N., Ohta S., Ishida Y., Okamura T., Wakiguchi H., Yasukawa M., Ishii E. Clinical characteristics and outcomes of chediak-Higashi syndrome: a nationwide survey of Japan. Pediatr. Blood Cancer 2013, 60:1582-1586.
-
(2013)
Pediatr. Blood Cancer
, vol.60
, pp. 1582-1586
-
-
Nagai, K.1
Ochi, F.2
Terui, K.3
Maeda, M.4
Ohga, S.5
Kanegane, H.6
Kitoh, T.7
Kogawa, K.8
Suzuki, N.9
Ohta, S.10
Ishida, Y.11
Okamura, T.12
Wakiguchi, H.13
Yasukawa, M.14
Ishii, E.15
-
58
-
-
0015013588
-
Chediak-Higashi syndrome in a child with Hodgkin[U+05F3]s disease
-
Tan C., Etcubanas E., Lieberman P., Isenberg H., Murphy M.L., King O. Chediak-Higashi syndrome in a child with Hodgkin[U+05F3]s disease. Am. J. Dis. Child. 1971, 121:135-139.
-
(1971)
Am. J. Dis. Child.
, vol.121
, pp. 135-139
-
-
Tan, C.1
Etcubanas, E.2
Lieberman, P.3
Isenberg, H.4
Murphy, M.L.5
King, O.6
-
59
-
-
84861685616
-
Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment
-
Ravelli A., Grom A.A., Behrens E.M., Cron R.Q. Macrophage activation syndrome as part of systemic juvenile idiopathic arthritis: diagnosis, genetics, pathophysiology and treatment. Genes Immun. 2012, 13:289-298.
-
(2012)
Genes Immun.
, vol.13
, pp. 289-298
-
-
Ravelli, A.1
Grom, A.A.2
Behrens, E.M.3
Cron, R.Q.4
-
60
-
-
39749185953
-
Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis
-
Hazen M.M., Woodward A.L., Hofmann I., Degar B.A., Grom A., Filipovich A.H., Binstadt B.A. Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis. Arthritis Rheum. 2008, 58:567-570.
-
(2008)
Arthritis Rheum.
, vol.58
, pp. 567-570
-
-
Hazen, M.M.1
Woodward, A.L.2
Hofmann, I.3
Degar, B.A.4
Grom, A.5
Filipovich, A.H.6
Binstadt, B.A.7
-
61
-
-
49749127387
-
Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms
-
Zhang K., Biroschak J., Glass D.N., Thompson S.D., Finkel T., Passo M.H., Binstadt B.A., Filipovich A., Grom A.A. Macrophage activation syndrome in patients with systemic juvenile idiopathic arthritis is associated with MUNC13-4 polymorphisms. Arthritis Rheum. 2008, 58:2892-2896.
-
(2008)
Arthritis Rheum.
, vol.58
, pp. 2892-2896
-
-
Zhang, K.1
Biroschak, J.2
Glass, D.N.3
Thompson, S.D.4
Finkel, T.5
Passo, M.H.6
Binstadt, B.A.7
Filipovich, A.8
Grom, A.A.9
-
62
-
-
77950531755
-
Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis
-
Vastert S.J., van Wijk R., D'Urbano L.E., de Vooght K.M., de Jager W., Ravelli A., Magni-Manzoni S., Insalaco A., Cortis E., van Solinge W.W., Prakken B.J., Wulffraat N.M., de Benedetti F., Kuis W. Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis. Rheumatology 2010, 49:441-449.
-
(2010)
Rheumatology
, vol.49
, pp. 441-449
-
-
Vastert, S.J.1
van Wijk, R.2
D'Urbano, L.E.3
de Vooght, K.M.4
de Jager, W.5
Ravelli, A.6
Magni-Manzoni, S.7
Insalaco, A.8
Cortis, E.9
van Solinge, W.W.10
Prakken, B.J.11
Wulffraat, N.M.12
de Benedetti, F.13
Kuis, W.14
-
63
-
-
84880303609
-
Recurrent macrophage activation syndrome associated with heterozygous perforin W374X gene mutation in a child with systemic juvenile idiopathic arthritis
-
Unal S., Balta G., Okur H., Aytac S., Cetin M., Gumruk F., Ozen S., Gurgey A. Recurrent macrophage activation syndrome associated with heterozygous perforin W374X gene mutation in a child with systemic juvenile idiopathic arthritis. J. Pediatr.Hematol. Oncol. 2013, 35:e205-208.
-
(2013)
J. Pediatr.Hematol. Oncol.
, vol.35
-
-
Unal, S.1
Balta, G.2
Okur, H.3
Aytac, S.4
Cetin, M.5
Gumruk, F.6
Ozen, S.7
Gurgey, A.8
-
64
-
-
42449112039
-
Variations of the perforin gene in patients with type 1 diabetes
-
Orilieri E., Cappellano G., Clementi R., Cometa A., Ferretti M., Cerutti E., Cadario F., Martinetti M., Larizza D., Calcaterra V., D'Annunzio G., Lorini R., Cerutti F., Bruno G., Chiocchetti A., Dianzani U. Variations of the perforin gene in patients with type 1 diabetes. Diabetes 2008, 57:1078-1083.
-
(2008)
Diabetes
, vol.57
, pp. 1078-1083
-
-
Orilieri, E.1
Cappellano, G.2
Clementi, R.3
Cometa, A.4
Ferretti, M.5
Cerutti, E.6
Cadario, F.7
Martinetti, M.8
Larizza, D.9
Calcaterra, V.10
D'Annunzio, G.11
Lorini, R.12
Cerutti, F.13
Bruno, G.14
Chiocchetti, A.15
Dianzani, U.16
-
65
-
-
48349133309
-
Variations of the perforin gene in patients with multiple sclerosis
-
Cappellano G., Orilieri E., Comi C., Chiocchetti A., Bocca S., Boggio E., Bernardone I.S., Cometa A., Clementi R., Barizzone N., D'Alfonso S., Corrado L., Galimberti D., Scarpini E., Guerini F.R., Caputo D., Paolicelli D., Trojano M., Figa-Talamanca L., Salvetti M., Perla F., Leone M., Monaco F., Dianzani U. Variations of the perforin gene in patients with multiple sclerosis. Genes Immun. 2008, 9:438-444.
-
(2008)
Genes Immun.
, vol.9
, pp. 438-444
-
-
Cappellano, G.1
Orilieri, E.2
Comi, C.3
Chiocchetti, A.4
Bocca, S.5
Boggio, E.6
Bernardone, I.S.7
Cometa, A.8
Clementi, R.9
Barizzone, N.10
D'Alfonso, S.11
Corrado, L.12
Galimberti, D.13
Scarpini, E.14
Guerini, F.R.15
Caputo, D.16
Paolicelli, D.17
Trojano, M.18
Figa-Talamanca, L.19
Salvetti, M.20
Perla, F.21
Leone, M.22
Monaco, F.23
Dianzani, U.24
more..
-
66
-
-
38349139194
-
Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis
-
Horne A., Trottestam H., Arico M., Egeler R.M., Filipovich A.H., Gadner H., Imashuku S., Ladisch S., Webb D., Janka G., Henter J.I. Frequency and spectrum of central nervous system involvement in 193 children with haemophagocytic lymphohistiocytosis. Br. J. Haematol. 2008, 140:327-335.
-
(2008)
Br. J. Haematol.
, vol.140
, pp. 327-335
-
-
Horne, A.1
Trottestam, H.2
Arico, M.3
Egeler, R.M.4
Filipovich, A.H.5
Gadner, H.6
Imashuku, S.7
Ladisch, S.8
Webb, D.9
Janka, G.10
Henter, J.I.11
-
67
-
-
84860783333
-
CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis
-
Deiva K., Mahlaoui N., Beaudonnet F., de Saint Basile G., Caridade G., Moshous D., Mikaeloff Y., Blanche S., Fischer A., Tardieu M. CNS involvement at the onset of primary hemophagocytic lymphohistiocytosis. Neurology 2012, 78:1150-1156.
-
(2012)
Neurology
, vol.78
, pp. 1150-1156
-
-
Deiva, K.1
Mahlaoui, N.2
Beaudonnet, F.3
de Saint Basile, G.4
Caridade, G.5
Moshous, D.6
Mikaeloff, Y.7
Blanche, S.8
Fischer, A.9
Tardieu, M.10
-
68
-
-
20144389453
-
Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity
-
Feldmann J., Menasche G., Callebaut I., Minard-Colin V., Bader-Meunier B., Le Clainche L., Fischer A., Le Deist F., Tardieu M., de Saint Basile G. Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity. Blood 2005, 105:2658-2663.
-
(2005)
Blood
, vol.105
, pp. 2658-2663
-
-
Feldmann, J.1
Menasche, G.2
Callebaut, I.3
Minard-Colin, V.4
Bader-Meunier, B.5
Le Clainche, L.6
Fischer, A.7
Le Deist, F.8
Tardieu, M.9
de Saint Basile, G.10
-
69
-
-
58049168372
-
Diagnostic challenges in a child with familial hemophagocytic lymphohistiocytosis type 3 (FHLH3) presenting with fulminant neurological disease
-
Weisfeld-Adams J.D., Frank Y., Havalad V., Hojsak J.M., Posada R., Kaicker S.M., Wistinghausen B. Diagnostic challenges in a child with familial hemophagocytic lymphohistiocytosis type 3 (FHLH3) presenting with fulminant neurological disease. Childs Nerv. Syst. 2009, 25:153-159.
-
(2009)
Childs Nerv. Syst.
, vol.25
, pp. 153-159
-
-
Weisfeld-Adams, J.D.1
Frank, Y.2
Havalad, V.3
Hojsak, J.M.4
Posada, R.5
Kaicker, S.M.6
Wistinghausen, B.7
-
70
-
-
33947158178
-
Primary necrotizing lymphocytic central nervous system vasculitis due to perforin deficiency in a four-year-old girl
-
Moshous D., Feyen O., Lankisch P., Schwarz K., Schaper J., Schneider M., Dilloo D., Laws H.J., Schwahn B.C., Niehues T. Primary necrotizing lymphocytic central nervous system vasculitis due to perforin deficiency in a four-year-old girl. Arthritis Rheumatol. 2007, 56:995-999.
-
(2007)
Arthritis Rheumatol.
, vol.56
, pp. 995-999
-
-
Moshous, D.1
Feyen, O.2
Lankisch, P.3
Schwarz, K.4
Schaper, J.5
Schneider, M.6
Dilloo, D.7
Laws, H.J.8
Schwahn, B.C.9
Niehues, T.10
-
71
-
-
78649897442
-
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases
-
Rohr J., Beutel K., Maul-Pavicic A., Vraetz T., Thiel J., Warnatz K., Bondzio I., Gross-Wieltsch U., Schundeln M., Schutz B., Woessmann W., Groll A.H., Strahm B., Pagel J., Speckmann C., Janka G., Griffiths G., Schwarz K., Zur Stadt U., Ehl S. Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. Haematologica 2010.
-
(2010)
Haematologica
-
-
Rohr, J.1
Beutel, K.2
Maul-Pavicic, A.3
Vraetz, T.4
Thiel, J.5
Warnatz, K.6
Bondzio, I.7
Gross-Wieltsch, U.8
Schundeln, M.9
Schutz, B.10
Woessmann, W.11
Groll, A.H.12
Strahm, B.13
Pagel, J.14
Speckmann, C.15
Janka, G.16
Griffiths, G.17
Schwarz, K.18
Zur Stadt, U.19
Ehl, S.20
more..
-
72
-
-
82155184553
-
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D
-
Meeths M., Chiang S.C., Wood S.M., Entesarian M., Schlums H., Bang B., Nordenskjold E., Bjorklund C., Jakovljevic G., Jazbec J., Hasle H., Holmqvist B.M., Rajic L., Pfeifer S., Rosthoj S., Sabel M., Salmi T.T., Stokland T., Winiarski J., Ljunggren H.G., Fadeel B., Nordenskjold M., Henter J.I., Bryceson Y.T. Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D. Blood 2011, 118:5783-5793.
-
(2011)
Blood
, vol.118
, pp. 5783-5793
-
-
Meeths, M.1
Chiang, S.C.2
Wood, S.M.3
Entesarian, M.4
Schlums, H.5
Bang, B.6
Nordenskjold, E.7
Bjorklund, C.8
Jakovljevic, G.9
Jazbec, J.10
Hasle, H.11
Holmqvist, B.M.12
Rajic, L.13
Pfeifer, S.14
Rosthoj, S.15
Sabel, M.16
Salmi, T.T.17
Stokland, T.18
Winiarski, J.19
Ljunggren, H.G.20
Fadeel, B.21
Nordenskjold, M.22
Henter, J.I.23
Bryceson, Y.T.24
more..
-
73
-
-
84901773831
-
-
Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency in press.
-
F. Cichocki, H. Schlums, H. Li, V. Stache, T. Holmes, T.R. Lenvik, S.C.C. Chiang, J.S. Miller, M. Meeths, S.K. Anderson Y.T. Bryceson, Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency, J. Exp. Med. (2014) in press.
-
(2014)
J. Exp. Med.
-
-
Cichocki, F.1
Schlums, H.2
Li, H.3
Stache, V.4
Holmes, T.5
Lenvik, T.R.6
Chiang, S.C.C.7
Miller, J.S.8
Meeths, M.9
Anderson, S.K.10
Bryceson, Y.T.11
|