-
1
-
-
0016383913
-
Letter: Fatal infectious mononucleosis in familial lymphohistiocytosis
-
Purtilo DT, Cassel C, Yang JP. Letter: fatal infectious mononucleosis in familial lymphohistiocytosis. N Engl J Med. 1974;291(14):736.
-
(1974)
N Engl J Med
, vol.291
, Issue.14
, pp. 736
-
-
Purtilo, D.T.1
Cassel, C.2
Yang, J.P.3
-
2
-
-
0016772968
-
X-linked recessive progressive combined variable immunodeficiency (Duncan's disease)
-
Purtilo DT, Cassel CK, Yang JP, Harper R. X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet. 1975;1(7913):935-940.
-
(1975)
Lancet
, vol.1
, Issue.7913
, pp. 935-940
-
-
Purtilo, D.T.1
Cassel, C.K.2
Yang, J.P.3
Harper, R.4
-
3
-
-
0029161779
-
X-linked lymphoproliferative disease: Twenty-five years after the discovery
-
Seemayer TA, Gross TG, Egeler RM, et al. X-linked lymphoproliferative disease: twenty-five years after the discovery. Pediatr Res. 1995;38(4):471-478.
-
(1995)
Pediatr Res
, vol.38
, Issue.4
, pp. 471-478
-
-
Seemayer, T.A.1
Gross, T.G.2
Egeler, R.M.3
-
4
-
-
33845619137
-
HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
-
Henter JI, Horne A, Arico M, et al. HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):124-131.
-
(2007)
Pediatr Blood Cancer
, vol.48
, Issue.2
, pp. 124-131
-
-
Henter, J.I.1
Horne, A.2
Arico, M.3
-
5
-
-
0032190081
-
The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
-
Sayos J, Wu C, Morra M, et al. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature. 1998;395(6701):462-469.
-
(1998)
Nature
, vol.395
, Issue.6701
, pp. 462-469
-
-
Sayos, J.1
Wu, C.2
Morra, M.3
-
6
-
-
17344372694
-
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
-
Coffey AJ, Brooksbank RA, Brandau O, et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet. 1998;20(2):129-135.
-
(1998)
Nat Genet
, vol.20
, Issue.2
, pp. 129-135
-
-
Coffey, A.J.1
Brooksbank, R.A.2
Brandau, O.3
-
7
-
-
33750597717
-
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
-
Rigaud S, Fondaneche MC, Lambert N, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006;444(7115):110-114.
-
(2006)
Nature
, vol.444
, Issue.7115
, pp. 110-114
-
-
Rigaud, S.1
Fondaneche, M.C.2
Lambert, N.3
-
8
-
-
77950640045
-
Anovel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly
-
Zhao M, Kanegane H, Ouchi K, Imamura T, Latour S, Miyawaki T.Anovel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly. Haematologica. 2009;95(4):688-689.
-
(2009)
Haematologica
, vol.95
, Issue.4
, pp. 688-689
-
-
Zhao, M.1
Kanegane, H.2
Ouchi, K.3
Imamura, T.4
Latour, S.5
Miyawaki, T.6
-
9
-
-
77956508441
-
XIAP deficiency: A unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease
-
Marsh RA, Madden L, Kitchen BJ, et al. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010;7(116):1079-1082.
-
(2010)
Blood
, vol.7
, Issue.116
, pp. 1079-1082
-
-
Marsh, R.A.1
Madden, L.2
Kitchen, B.J.3
-
10
-
-
0036434912
-
X-linked lymphoproliferative disease: Clinical, diagnostic and molecular perspective
-
Gaspar HB, Sharifi R, Gilmour KC, Thrasher AJ. X-linked lymphoproliferative disease: clinical, diagnostic and molecular perspective. Br J Haematol. 2002;119(3):585-595.
-
(2002)
Br J Haematol
, vol.119
, Issue.3
, pp. 585-595
-
-
Gaspar, H.B.1
Sharifi, R.2
Gilmour, K.C.3
Thrasher, A.J.4
-
11
-
-
13144302865
-
Molecular and cellular pathogenesis of X-linked lymphoproliferative disease
-
Nichols KE, Ma CS, Cannons JL, Schwartzberg PL, Tangye SG. Molecular and cellular pathogenesis of X-linked lymphoproliferative disease. Immunol Rev. 2005;203:180-199.
-
(2005)
Immunol Rev
, vol.203
, pp. 180-199
-
-
Nichols, K.E.1
Ma, C.S.2
Cannons, J.L.3
Schwartzberg, P.L.4
Tangye, S.G.5
-
12
-
-
0025860510
-
Immunoglobulin class and subclass deficiencies prior to Epstein-Barr virus infection in males with X-linked lymphoproliferative disease
-
Grierson HL, Skare J, Hawk J, Pauza M, Purtilo DT. Immunoglobulin class and subclass deficiencies prior to Epstein-Barr virus infection in males with X-linked lymphoproliferative disease. Am J Med Genet. 1991;40(3):294-297.
-
(1991)
Am J Med Genet
, vol.40
, Issue.3
, pp. 294-297
-
-
Grierson, H.L.1
Skare, J.2
Hawk, J.3
Pauza, M.4
Purtilo, D.T.5
-
13
-
-
0035171816
-
Lymphocytic vasculitis in X-linked lymphoproliferative disease
-
Dutz JP, Benoit L, Wang X, et al. Lymphocytic vasculitis in X-linked lymphoproliferative disease. Blood. 2001;97(1):95-100.
-
(2001)
Blood
, vol.97
, Issue.1
, pp. 95-100
-
-
Dutz, J.P.1
Benoit, L.2
Wang, X.3
-
14
-
-
34247892632
-
Regulation of cellular and humoral immune responses by the SLAM and SAP families of molecules
-
Ma CS, Nichols KE, Tangye SG. Regulation of cellular and humoral immune responses by the SLAM and SAP families of molecules. Annu Rev Immunol. 2007;25:337-379.
-
(2007)
Annu Rev Immunol
, vol.25
, pp. 337-379
-
-
Ma, C.S.1
Nichols, K.E.2
Tangye, S.G.3
-
15
-
-
33749252583
-
Human inhibitor of apoptosis proteins: Why XIAP is the black sheep of the family
-
Eckelman BP, Salvesen GS, Scott FL. Human inhibitor of apoptosis proteins: why XIAP is the black sheep of the family. EMBO Rep. 2006;7(10):988-994.
-
(2006)
EMBO Rep
, vol.7
, Issue.10
, pp. 988-994
-
-
Eckelman, B.P.1
Salvesen, G.S.2
Scott, F.L.3
-
16
-
-
77449136104
-
XIAP as a ubiquitin ligase in cellular signaling
-
Galban S, Duckett CS. XIAP as a ubiquitin ligase in cellular signaling. Cell Death Differ. 2009;17(1):54-60.
-
(2009)
Cell Death Differ
, vol.17
, Issue.1
, pp. 54-60
-
-
Galban, S.1
Duckett, C.S.2
-
17
-
-
34447342831
-
Limbic encephalitis as presentation of a SAP deficiency
-
Verhelst H, Van Coster R, Bockaert N, et al. Limbic encephalitis as presentation of a SAP deficiency. Neurology. 2007;69(2):218-219.
-
(2007)
Neurology
, vol.69
, Issue.2
, pp. 218-219
-
-
Verhelst, H.1
Van Coster, R.2
Bockaert, N.3
-
18
-
-
73449119611
-
Hepatobiliary associations with inflammatory bowel disease
-
Knight C, Murray KF. Hepatobiliary associations with inflammatory bowel disease. Expert Rev Gastroenterol Hepatol. 2009;3(6):681-691.
-
(2009)
Expert Rev Gastroenterol Hepatol
, vol.3
, Issue.6
, pp. 681-691
-
-
Knight, C.1
Murray, K.F.2
-
19
-
-
73149100111
-
An atypical case of X-linked lymphoproliferative disease revealed as a late cerebral lymphoma
-
Hervier B, Latour S, Loussouarn D, et al. An atypical case of X-linked lymphoproliferative disease revealed as a late cerebral lymphoma. J Neuroimmunol. 2010;218(1-2):125-128.
-
(2010)
J Neuroimmunol
, vol.218
, Issue.1-2
, pp. 125-128
-
-
Hervier, B.1
Latour, S.2
Loussouarn, D.3
-
20
-
-
38649116029
-
Chronic active gastritis in X-linked lymphoproliferative disease
-
Rougemont AL, Fournet JC, Martin SR, et al. Chronic active gastritis in X-linked lymphoproliferative disease. Am J Surg Pathol. 2008;32(2):323-328.
-
(2008)
Am J Surg Pathol
, vol.32
, Issue.2
, pp. 323-328
-
-
Rougemont, A.L.1
Fournet, J.C.2
Martin, S.R.3
-
21
-
-
0034331249
-
Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease
-
Sumegi J, Huang D, Lanyi A, et al. Correlation of mutations of the SH2D1A gene and Epstein-Barr virus infection with clinical phenotype and outcome in X-linked lymphoproliferative disease. Blood. 2000;96(9):3118-3125.
-
(2000)
Blood
, vol.96
, Issue.9
, pp. 3118-3125
-
-
Sumegi, J.1
Huang, D.2
Lanyi, A.3
-
22
-
-
69049110783
-
Essential function for SAP family adaptors in the surveillance of hematopoietic cells by natural killer cells
-
Dong Z, Cruz-Munoz ME, Zhong MC, Chen R, Latour S, Veillette A. Essential function for SAP family adaptors in the surveillance of hematopoietic cells by natural killer cells. Nat Immunol. 2009;10(9):973-980.
-
(2009)
Nat Immunol
, vol.10
, Issue.9
, pp. 973-980
-
-
Dong, Z.1
Cruz-Munoz, M.E.2
Zhong, M.C.3
Chen, R.4
Latour, S.5
Veillette, A.6
-
23
-
-
22344436371
-
Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn
-
Bloch-Queyrat C, Fondaneche MC, Chen R, et al. Regulation of natural cytotoxicity by the adaptor SAP and the Src-related kinase Fyn. J Exp Med. 2005;202(1):181-192.
-
(2005)
J Exp Med
, vol.202
, Issue.1
, pp. 181-192
-
-
Bloch-Queyrat, C.1
Fondaneche, M.C.2
Chen, R.3
-
24
-
-
0034618065
-
X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells
-
Parolini S, Bottino C, Falco M, et al. X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. J Exp Med. 2000;192(3):337-346.
-
(2000)
J Exp Med
, vol.192
, Issue.3
, pp. 337-346
-
-
Parolini, S.1
Bottino, C.2
Falco, M.3
-
25
-
-
19344372415
-
SAP controls the cytolytic activity of CD8+ T cells against EBV-infected cells
-
Dupre L, Andolfi G, Tangye SG, et al. SAP controls the cytolytic activity of CD8+ T cells against EBV-infected cells. Blood. 2005;105(11):4383-4389.
-
(2005)
Blood
, vol.105
, Issue.11
, pp. 4383-4389
-
-
Dupre, L.1
Andolfi, G.2
Tangye, S.G.3
-
26
-
-
2342565731
-
SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease
-
Sharifi R, Sinclair JC, Gilmour KC, et al. SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease. Blood. 2004;103(10):3821-3827.
-
(2004)
Blood
, vol.103
, Issue.10
, pp. 3821-3827
-
-
Sharifi, R.1
Sinclair, J.C.2
Gilmour, K.C.3
-
27
-
-
78049368414
-
Impaired Epstein-Barr virus-specific CD8+ T cell function in X-linked lymphoproliferative disease is restricted to SLAM family positive B cell targets
-
Blood
-
Hislop AD, Palendira U, Leese AM, et al. Impaired Epstein-Barr virus-specific CD8+ T cell function in X-linked lymphoproliferative disease is restricted to SLAM family positive B cell targets. Blood. Blood. 2010;116(17):3249-3257.
-
(2010)
Blood
, vol.116
, Issue.17
, pp. 3249-3257
-
-
Hislop, A.D.1
Palendira, U.2
Leese, A.M.3
-
29
-
-
70350367120
-
Importance and mechanism of 'switch' function of SAP family adapters
-
Veillette A, Dong Z, Perez-Quintero LA, Zhong MC, Cruz-Munoz ME. Importance and mechanism of 'switch' function of SAP family adapters. Immunol Rev. 2009;232(1):229-239.
-
(2009)
Immunol Rev
, vol.232
, Issue.1
, pp. 229-239
-
-
Veillette, A.1
Dong, Z.2
Perez-Quintero, L.A.3
Zhong, M.C.4
Cruz-Munoz, M.E.5
-
30
-
-
70149099161
-
XIAP mediates NOD signaling via interaction with RIP2
-
Krieg A, Correa RG, Garrison JB, et al. XIAP mediates NOD signaling via interaction with RIP2. Proc Natl Acad Sci U S A. 2009;106(34):14524-14529.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, Issue.34
, pp. 14524-14529
-
-
Krieg, A.1
Correa, R.G.2
Garrison, J.B.3
-
31
-
-
0035978651
-
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
-
Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 2001;411(6837):599-603.
-
(2001)
Nature
, vol.411
, Issue.6837
, pp. 599-603
-
-
Hugot, J.P.1
Chamaillard, M.2
Zouali, H.3
-
32
-
-
70349678683
-
Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency
-
Snow AL, Marsh RA, Krummey SM, et al. Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency. J Clin Invest. 2009;119(10):2976-2989.
-
(2009)
J Clin Invest
, vol.119
, Issue.10
, pp. 2976-2989
-
-
Snow, A.L.1
Marsh, R.A.2
Krummey, S.M.3
-
33
-
-
23444433656
-
Signaling lymphocyte activation molecule-associated protein is a negative regulator of the CD8 T cell response in mice
-
Chen G, Tai AK, Lin M, Chang F, Terhorst C, Huber BT. Signaling lymphocyte activation molecule-associated protein is a negative regulator of the CD8 T cell response in mice. J Immunol. 2005;175(4):2212-2218.
-
(2005)
J Immunol
, vol.175
, Issue.4
, pp. 2212-2218
-
-
Chen, G.1
Tai, A.K.2
Lin, M.3
Chang, F.4
Terhorst, C.5
Huber, B.T.6
-
34
-
-
0037448564
-
SAP is required for generating long-term humoral immunity
-
Crotty S, Kersh EN, Cannons J, Schwartzberg PL, Ahmed R. SAP is required for generating long-term humoral immunity. Nature. 2003;421(6920):282-287.
-
(2003)
Nature
, vol.421
, Issue.6920
, pp. 282-287
-
-
Crotty, S.1
Kersh, E.N.2
Cannons, J.3
Schwartzberg, P.L.4
Ahmed, R.5
-
35
-
-
53649107278
-
SAP-controlled T-B cell interactions underlie germinal centre formation
-
Qi H, Cannons JL, Klauschen F, Schwartzberg PL, Germain RN. SAP-controlled T-B cell interactions underlie germinal centre formation. Nature. 2008;455(7214):764-769.
-
(2008)
Nature
, vol.455
, Issue.7214
, pp. 764-769
-
-
Qi, H.1
Cannons, J.L.2
Klauschen, F.3
Schwartzberg, P.L.4
Germain, R.N.5
-
36
-
-
16844385039
-
Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells
-
Ma CS, Hare NJ, Nichols KE, et al. Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells. J Clin Invest. 2005;115(4):1049-1059.
-
(2005)
J Clin Invest
, vol.115
, Issue.4
, pp. 1049-1059
-
-
Ma, C.S.1
Hare, N.J.2
Nichols, K.E.3
|