-
1
-
-
4344609133
-
Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency
-
Eastwood D., Gilmour K.C., Nistala K., Meaney C., Chapel H., Sherrell Z., Webster A.D., Davies E.G., Jones A., and Gaspar H.B. Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency. Clin. Exp. Immunol. 137 3 (2004) 584-588
-
(2004)
Clin. Exp. Immunol.
, vol.137
, Issue.3
, pp. 584-588
-
-
Eastwood, D.1
Gilmour, K.C.2
Nistala, K.3
Meaney, C.4
Chapel, H.5
Sherrell, Z.6
Webster, A.D.7
Davies, E.G.8
Jones, A.9
Gaspar, H.B.10
-
2
-
-
0035883052
-
SH2D1A mutations in Japanese males with severe Epstein Barr virus-associated illnesses
-
Sumazagi R., Kanegane H., Osaki M., Fukushima T., Tsuchida M., Matsukura H., Shinozaki K., Kimura H., Matsui A., and Miyawaki T. SH2D1A mutations in Japanese males with severe Epstein Barr virus-associated illnesses. Blood 98 4 (2001) 1268-1270
-
(2001)
Blood
, vol.98
, Issue.4
, pp. 1268-1270
-
-
Sumazagi, R.1
Kanegane, H.2
Osaki, M.3
Fukushima, T.4
Tsuchida, M.5
Matsukura, H.6
Shinozaki, K.7
Kimura, H.8
Matsui, A.9
Miyawaki, T.10
-
3
-
-
17044424680
-
Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members
-
Tabata Y., Villanueva J., Molleran L.S., Zhang K., Kanegane H., Miyawaki T., Sumegi J., and Filipovich A.H. Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. Blood 105 8 (2005) 3066-3071
-
(2005)
Blood
, vol.105
, Issue.8
, pp. 3066-3071
-
-
Tabata, Y.1
Villanueva, J.2
Molleran, L.S.3
Zhang, K.4
Kanegane, H.5
Miyawaki, T.6
Sumegi, J.7
Filipovich, A.H.8
-
4
-
-
0016391672
-
Fatal infectious mononucleosis in a family
-
Bar R.S., DeLor C.J., Clausen K.P., Hurtubise P., Henle W., and Hewetson J.F. Fatal infectious mononucleosis in a family. N. Engl. J. Med. 290 (1974) 363-367
-
(1974)
N. Engl. J. Med.
, vol.290
, pp. 363-367
-
-
Bar, R.S.1
DeLor, C.J.2
Clausen, K.P.3
Hurtubise, P.4
Henle, W.5
Hewetson, J.F.6
-
5
-
-
0016772968
-
X-linked recessive progressive combined variable immunodeficiency (Duncan's disease)
-
Purtilo D.T., Cassel C.K., Yang J.P., and Harper R. X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet 1 (1975) 935-940
-
(1975)
Lancet
, vol.1
, pp. 935-940
-
-
Purtilo, D.T.1
Cassel, C.K.2
Yang, J.P.3
Harper, R.4
-
6
-
-
0017666924
-
Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome
-
Purtilo D.T., DeFlorio D.J., Hutt L.M., Bhawan J., Yang J.P., Otto R., and Edwards W. Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome. N. Engl. J. Med. 297 (1977) 1077-1080
-
(1977)
N. Engl. J. Med.
, vol.297
, pp. 1077-1080
-
-
Purtilo, D.T.1
DeFlorio, D.J.2
Hutt, L.M.3
Bhawan, J.4
Yang, J.P.5
Otto, R.6
Edwards, W.7
-
7
-
-
0023244981
-
Epstein-Barr virus infections in males with the X-linked lymphoproliferative syndrome
-
Grierson H., and Purtilo D.T. Epstein-Barr virus infections in males with the X-linked lymphoproliferative syndrome. Ann. Intern. Med. 106 (1987) 538-545
-
(1987)
Ann. Intern. Med.
, vol.106
, pp. 538-545
-
-
Grierson, H.1
Purtilo, D.T.2
-
8
-
-
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., and Terhorst C. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature 395 (1998) 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
-
9
-
-
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., and Bentley D.R. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat. Genet. 20 (1998) 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
Bentley, D.R.25
more..
-
10
-
-
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., and Haber D.A. Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome. Proc. Natl. Acad. Sci .U. S. A. 95 (1998) 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
-
11
-
-
0035992264
-
A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses
-
Sumegi J., Seemayer T.A., Huang D., Davis J.R., Morra M., Gross T.G., Yin L., Romco G., Klein E., Terhorst C., and Lanyi A. A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses. Leuk. Lymphoma 43 (2002) 1189-1201
-
(2002)
Leuk. Lymphoma
, vol.43
, pp. 1189-1201
-
-
Sumegi, J.1
Seemayer, T.A.2
Huang, D.3
Davis, J.R.4
Morra, M.5
Gross, T.G.6
Yin, L.7
Romco, G.8
Klein, E.9
Terhorst, C.10
Lanyi, A.11
-
12
-
-
13144259647
-
Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis
-
Menasche G., Feldmann J., Fischer A., and de Saint B.G. Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis. Immunol. Rev. 203 (2005) 165-179
-
(2005)
Immunol. Rev.
, vol.203
, pp. 165-179
-
-
Menasche, G.1
Feldmann, J.2
Fischer, A.3
de Saint, B.G.4
-
13
-
-
0019972807
-
Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP): update on studies of the registry
-
Purtilo D.T., Sakamoto K., Barnabei V., Seeley J., Bechtold T., Rogers G., Yetz J., and Harada S. Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP): update on studies of the registry. Am. J. Med. 73 (1982) 49-56
-
(1982)
Am. J. Med.
, vol.73
, pp. 49-56
-
-
Purtilo, D.T.1
Sakamoto, K.2
Barnabei, V.3
Seeley, J.4
Bechtold, T.5
Rogers, G.6
Yetz, J.7
Harada, S.8
-
14
-
-
0030702854
-
Clinical spectrum of X-linked hyper-IgM syndrome
-
Levy J., Espanol-Boren T., Thomas C., Fischer A., Tovo P., Bordigoni P., Resnick I., Fasth A., Baer M., Gomez L., Sanders E.A., Tabone M.D., Plantaz D., Etzioni A., Monafo V., Abinun M., Hammarstrom L., Abrabamsen T., Jones A., Finn A., Klemola T., DeVries E., Sanal O., Peitsch M.C., and Notarangelo L.D. Clinical spectrum of X-linked hyper-IgM syndrome. J. Pediatr. 131 (1997) 47-54
-
(1997)
J. Pediatr.
, vol.131
, pp. 47-54
-
-
Levy, J.1
Espanol-Boren, T.2
Thomas, C.3
Fischer, A.4
Tovo, P.5
Bordigoni, P.6
Resnick, I.7
Fasth, A.8
Baer, M.9
Gomez, L.10
Sanders, E.A.11
Tabone, M.D.12
Plantaz, D.13
Etzioni, A.14
Monafo, V.15
Abinun, M.16
Hammarstrom, L.17
Abrabamsen, T.18
Jones, A.19
Finn, A.20
Klemola, T.21
DeVries, E.22
Sanal, O.23
Peitsch, M.C.24
Notarangelo, L.D.25
more..
-
15
-
-
0345276650
-
The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients
-
Winkelstein J.A., Marino M.C., Ochs H., Fuleihan R., Scholl P.R., Geha R., Stiehm E.R., and Conley M.E. The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore) 82 (2003) 373-384
-
(2003)
Medicine (Baltimore)
, vol.82
, pp. 373-384
-
-
Winkelstein, J.A.1
Marino, M.C.2
Ochs, H.3
Fuleihan, R.4
Scholl, P.R.5
Geha, R.6
Stiehm, E.R.7
Conley, M.E.8
-
16
-
-
17044424680
-
Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members
-
Tabata Y., Villanueva J., Lee S.M., Zhang K., Kanegane H., Miyawaki T., Sumegi J., and Filipovich A.H. Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members. Blood 105 (2005) 3066-3071
-
(2005)
Blood
, vol.105
, pp. 3066-3071
-
-
Tabata, Y.1
Villanueva, J.2
Lee, S.M.3
Zhang, K.4
Kanegane, H.5
Miyawaki, T.6
Sumegi, J.7
Filipovich, A.H.8
-
17
-
-
0016772968
-
X-linked recessive progressive combined variable immunodeficiency (Duncan's disease)
-
Purtilo D.T., Cassel C.K., Yang J.P.S., Harper P., Stephensen S.R., Landing B.H., and Vawter G.F. X-linked recessive progressive combined variable immunodeficiency (Duncan's disease). Lancet 1 (1975) 935-941
-
(1975)
Lancet
, vol.1
, pp. 935-941
-
-
Purtilo, D.T.1
Cassel, C.K.2
Yang, J.P.S.3
Harper, P.4
Stephensen, S.R.5
Landing, B.H.6
Vawter, G.F.7
-
18
-
-
13144302865
-
Molecular and cellular pathogenesis of X-linked lymphoproliferative disease
-
Nichols K.E., Ma C.S., Cannons J., Schwartzberg P.L., and Tangye S.G. Molecular and cellular pathogenesis of X-linked lymphoproliferative disease. Immunol. Rev. 203 (2005) 180-199
-
(2005)
Immunol. Rev.
, vol.203
, pp. 180-199
-
-
Nichols, K.E.1
Ma, C.S.2
Cannons, J.3
Schwartzberg, P.L.4
Tangye, S.G.5
-
19
-
-
12844253028
-
Use of B-cell directed therapy to treat primary Epstein-Barr virus (EBV) infection in patients with X-linked lymphoproliferative disease (XLP)
-
Milone M., Tsai D.E., Hodinka R., Silverman L.B., Stadtmauer E.A., Malbran A., Wasik M., and Nichols K.E. Use of B-cell directed therapy to treat primary Epstein-Barr virus (EBV) infection in patients with X-linked lymphoproliferative disease (XLP). Blood 105 (2005) 994-996
-
(2005)
Blood
, vol.105
, pp. 994-996
-
-
Milone, M.1
Tsai, D.E.2
Hodinka, R.3
Silverman, L.B.4
Stadtmauer, E.A.5
Malbran, A.6
Wasik, M.7
Nichols, K.E.8
-
20
-
-
33646389867
-
-
http://www.genetests.org/.
-
-
-
-
21
-
-
20144387328
-
Regulation of NKT cell development by SAP, the protein defective in X-linked lymphoproliferative disease
-
Nichols K.E., Hom J., Gong S.-Y., Ganguly A., Ma C., Cannons J., Tangye S.G., Schwartzberg P.L., Koretzky G.A., and Stein P.L. Regulation of NKT cell development by SAP, the protein defective in X-linked lymphoproliferative disease. Nat. Med. 11 (2005) 340-345
-
(2005)
Nat. Med.
, vol.11
, pp. 340-345
-
-
Nichols, K.E.1
Hom, J.2
Gong, S.-Y.3
Ganguly, A.4
Ma, C.5
Cannons, J.6
Tangye, S.G.7
Schwartzberg, P.L.8
Koretzky, G.A.9
Stein, P.L.10
-
22
-
-
16844385039
-
+ T cells
-
+ T cells. J. Clin. Invest. 115 (2005) 1049-1059
-
(2005)
J. Clin. Invest.
, vol.115
, pp. 1049-1059
-
-
Ma, C.S.1
Hare, N.J.2
Nichols, K.E.3
Dupre, L.4
Andolfi, G.5
Roncarolo, M.G.6
Adelstein, S.7
Hodgkin, P.D.8
Tangye, S.G.9
|