-
1
-
-
34547691044
-
Hemophagocytic syndromes
-
DOI 10.1016/j.blre.2007.05.001, PII S0268960X07000240
-
Janka GE. Hemophagocytic syndromes. Blood Rev. 2007;21(5):245-253. (Pubitemid 47212601)
-
(2007)
Blood Reviews
, vol.21
, Issue.5
, pp. 245-253
-
-
Janka, G.E.1
-
2
-
-
77649169379
-
Primary and secondary hemophagocytic lymphohistiocytosis: Clinical features, pathogenesis and therapy
-
Gupta S, Weitzman S. Primary and secondary hemophagocytic lymphohistiocytosis: clinical features, pathogenesis and therapy. Expert Rev Clin Immunol. 2010;6(1):137-154.
-
(2010)
Expert Rev Clin Immunol
, vol.6
, Issue.1
, pp. 137-154
-
-
Gupta, S.1
Weitzman, S.2
-
3
-
-
47149093903
-
When T cells and macrophages do not talk: The hemophagocytic syndromes
-
Arceci RJ. When T cells and macrophages do not talk: the hemophagocytic syndromes. Curr Opin Hematol. 2008;15(4):359-367.
-
(2008)
Curr Opin Hematol
, vol.15
, Issue.4
, pp. 359-367
-
-
Arceci, R.J.1
-
4
-
-
0033520970
-
Perform gene defects in familial hemophagocytic lymphohistiocytosis
-
Stepp SE, Dufourcq-Lagelouse R, Le Deist F, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999;286(5446):1957- 1959. (Pubitemid 129515904)
-
(1999)
Science
, vol.286
, Issue.5446
, pp. 1957-1959
-
-
Stepp, S.E.1
Dufourcq-Lagelouse, R.2
Le, D.F.3
Bhawan, S.4
Certain, S.5
Mathew, P.A.6
Henter, J.-I.7
Bennett, M.8
Fischer, A.9
De Saint, B.G.10
Kumar, V.11
-
5
-
-
10744224641
-
Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3)
-
DOI 10.1016/S0092-8674(03)00855-9
-
Feldmann J, Callebaut I, Raposo G, et al. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell. 2003; 115(4):461-473. (Pubitemid 37456808)
-
(2003)
Cell
, vol.115
, Issue.4
, 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, D.F.14
Fischer, A.15
De Saint, B.G.16
-
6
-
-
20144363940
-
Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11
-
DOI 10.1093/hmg/ddi076
-
zur Stadt U, Schmidt S, Kasper B, et al. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet. 2005;14(6):827-834. (Pubitemid 40403278)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.6
, pp. 827-834
-
-
Zur, S.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
-
7
-
-
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, et al. 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(4):482-492.
-
(2009)
Am J Hum Genet
, vol.85
, Issue.4
, pp. 482-492
-
-
Zur Stadt, U.1
Rohr, J.2
Seifert, W.3
-
8
-
-
72849125357
-
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells
-
Côte M, Menager MM, Burgess A, et al. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest. 2009; 119(12):3765-3773.
-
(2009)
J Clin Invest
, vol.119
, Issue.12
, pp. 3765-3773
-
-
Côte, M.1
Menager, M.M.2
Burgess, A.3
-
9
-
-
77954956416
-
Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules
-
de Saint Basile G, Menasche G, Fischer A. Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules. Nat Rev Immunol. 2010; 10(8):568-579.
-
(2010)
Nat Rev Immunol
, vol.10
, Issue.8
, pp. 568-579
-
-
De Saint Basile, G.1
Menasche, G.2
Fischer, A.3
-
10
-
-
77950656593
-
Molecular basis of familial hemophagocytic lymphohistiocytosis
-
Cetica V, Pende D, Griffiths GM, Arico M. Molecular basis of familial hemophagocytic lymphohistiocytosis. Haematologica. 2010;95(4):538-541.
-
(2010)
Haematologica
, vol.95
, Issue.4
, pp. 538-541
-
-
Cetica, V.1
Pende, D.2
Griffiths, G.M.3
Arico, M.4
-
11
-
-
0344002689
-
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome
-
DOI 10.1038/76024
-
Ménasché G, Pastural E, Feldmann J, et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet. 2000;25(2):173-176. (Pubitemid 30394987)
-
(2000)
Nature Genetics
, vol.25
, Issue.2
, 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, D.F.10
De Saint, B.G.11
-
12
-
-
15844397403
-
Identification of the homologous beige and Chediak-Higashi syndrome genes
-
DOI 10.1038/382262a0
-
Barbosa MD, Nguyen QA, Tchernev VT, et al. Identification of the homologous beige and Chediak- Higashi syndrome genes. Nature. 1996; 382(6588):262-265. (Pubitemid 26251362)
-
(1996)
Nature
, vol.382
, Issue.6588
, pp. 262-265
-
-
Barbosa, M.D.F.S.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.E.10
Lovett, M.11
Kingsmore, S.F.12
-
13
-
-
0018868919
-
A new immunodeficiency disorder in humans involving NK cells
-
Roder JC, Haliotis T, Klein M, et al. A new immunodeficiency disorder in humans involving NK cells. Nature. 1980;284(5756):553-555. (Pubitemid 10070335)
-
(1980)
Nature
, vol.284
, Issue.5756
, pp. 553-555
-
-
Roder, J.C.1
Haliotis, T.2
Klein, M.3
-
14
-
-
72949100151
-
Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity
-
Wood SM, Meeths M, Chiang SC, et al. Different NK cell-activating receptors preferentially recruit Rab27a or Munc13-4 to perforin-containing granules for cytotoxicity. Blood. 2009;114(19):4117- 4127.
-
(2009)
Blood
, vol.114
, Issue.19
, pp. 4117-4127
-
-
Wood, S.M.1
Meeths, M.2
Chiang, S.C.3
-
15
-
-
17344372694
-
Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
-
DOI 10.1038/2424
-
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. (Pubitemid 28455444)
-
(1998)
Nature Genetics
, vol.20
, Issue.2
, 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 Basile, G.S.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..
-
16
-
-
33750597717
-
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome
-
DOI 10.1038/nature05257, PII NATURE05257
-
Rigaud S, Fondaneche MC, Lambert N, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006; 444(7115):110-114. (Pubitemid 44684766)
-
(2006)
Nature
, vol.444
, Issue.7115
, 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, D.F.8
Rieux-Laucat, F.9
Revy, P.10
Fischer, A.11
De Saint, B.G.12
Latour, S.13
-
17
-
-
78650984696
-
X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: A multicenter study on the manifestations, management and outcome of the disease
-
Booth C, Gilmour KC, Veys P, et al. X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood. 2011;117(1):53-62.
-
(2011)
Blood
, vol.117
, Issue.1
, pp. 53-62
-
-
Booth, C.1
Gilmour, K.C.2
Veys, P.3
-
18
-
-
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;116(7): 1079-1082.
-
(2010)
Blood
, vol.116
, Issue.7
, pp. 1079-1082
-
-
Marsh, R.A.1
Madden, L.2
Kitchen, B.J.3
-
19
-
-
0031926347
-
Infection- and malignancy-associated hemophagocytic syndromes: Secondary hemophagocytic lymphohistiocytosis
-
DOI 10.1016/S0889-8588(05)70521-9
-
Janka G, Imashuku S, Elinder G, Schneider M, Henter JI. Infection- and malignancy-associated hemophagocytic syndromes. Secondary hemophagocytic lymphohistiocytosis. Hematol Oncol Clin North Am. 1998;12(2):435-444. (Pubitemid 28175891)
-
(1998)
Hematology/Oncology Clinics of North America
, vol.12
, Issue.2
, pp. 435-444
-
-
Janka, G.1
Imashuku, S.2
Elinder, G.3
Schneider, M.4
Henter, J.-I.5
-
20
-
-
0036707740
-
Macrophage activation syndrome
-
DOI 10.1097/00002281-200209000-00012
-
Ravelli A. Macrophage activation syndrome. Curr Opin Rheumatol. 2002;14(5):548-552. (Pubitemid 34953793)
-
(2002)
Current Opinion in Rheumatology
, vol.14
, Issue.5
, pp. 548-552
-
-
Ravelli, A.1
-
21
-
-
77649155207
-
Viral infections associated with haemophagocytic syndrome
-
Maakaroun NR, Moanna A, Jacob JT, Albrecht H. Viral infections associated with haemophagocytic syndrome. Rev Med Virol. 2010;20(2):93-105.
-
(2010)
Rev Med Virol
, vol.20
, Issue.2
, pp. 93-105
-
-
Maakaroun, N.R.1
Moanna, A.2
Jacob, J.T.3
Albrecht, H.4
-
22
-
-
54349115607
-
Hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis: A journey of a thousand miles begins with a single (big) step
-
Jordan MB, Filipovich AH. Hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis: a journey of a thousand miles begins with a single (big) step. Bone Marrow Transplant. 2008;42(7):433-437.
-
(2008)
Bone Marrow Transplant
, vol.42
, Issue.7
, pp. 433-437
-
-
Jordan, M.B.1
Filipovich, A.H.2
-
23
-
-
33845619137
-
HLH-2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis
-
DOI 10.1002/pbc.21039
-
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. (Pubitemid 44958267)
-
(2007)
Pediatric Blood and Cancer
, vol.48
, Issue.2
, 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
-
24
-
-
78650811211
-
Contemporary diagnostic methods for hemophagocytic lymphohistiocytic disorders
-
Johnson TS, Villanueva J, Filipovich AH, Marsh RA, Bleesing JJ. Contemporary diagnostic methods for hemophagocytic lymphohistiocytic disorders. J Immunol Methods. 2011; 364(1-2):1-13.
-
(2011)
J Immunol Methods
, vol.364
, Issue.1-2
, pp. 1-13
-
-
Johnson, T.S.1
Villanueva, J.2
Filipovich, A.H.3
Marsh, R.A.4
Bleesing, J.J.5
-
25
-
-
20444455073
-
Subtyping of natural killer cell cytotoxicity deficiencies in haemophagocytic lymphohistocytosis provides therapeutic guidance
-
DOI 10.1111/j.1365-2141.2005.05502.x
-
Horne A, Zheng C, Lorenz I, et al. Subtyping of natural killer cell cytotoxicity deficiencies in haemophagocytic lymphohistocytosis provides therapeutic guidance. Br J Haematol. 2005;129(5): 658-666. (Pubitemid 40825828)
-
(2005)
British Journal of Haematology
, vol.129
, Issue.5
, pp. 658-666
-
-
Horne, A.1
Zheng, C.2
Lorenz, I.3
Lofstedt, M.4
Montgomery, S.M.5
Janka, G.6
Henter, J.-I.7
Schneider, E.M.8
-
26
-
-
0036095443
-
Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members
-
Kogawa K, Lee SM, Villanueva J, Marmer D, Sumegi J, Filipovich AH. Perforin expression in cytotoxic lymphocytes from patients with hemophagocytic lymphohistiocytosis and their family members. Blood. 2002;99(1):61-66.
-
(2002)
Blood
, vol.99
, Issue.1
, pp. 61-66
-
-
Kogawa, K.1
Lee, S.M.2
Villanueva, J.3
Marmer, D.4
Sumegi, J.5
Filipovich, A.H.6
-
27
-
-
0036796371
-
Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection
-
Shinozaki K, Kanegane H, Matsukura H, et al. Activation-dependent T cell expression of the X-linked lymphoproliferative disease gene product SLAM-associated protein and its assessment for patient detection. Int Immunol. 2002;14(10): 1215-1223. (Pubitemid 35175228)
-
(2002)
International Immunology
, vol.14
, Issue.10
, pp. 1215-1223
-
-
Shinozaki, K.1
Kanegane, H.2
Matsukura, H.3
Sumazaki, R.4
Tsuchida, M.5
Makita, M.6
Kimoto, Y.7
Kanai, R.8
Tsumura, K.9
Kondoh, T.10
Moriuchi, H.11
Miyawaki, T.12
-
28
-
-
74849095435
-
A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency
-
Marsh RA, Villanueva J, Zhang K, et al. A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency. Cytometry B Clin Cytom. 2009;76(5):334-344.
-
(2009)
Cytometry B Clin Cytom
, vol.76
, Issue.5
, pp. 334-344
-
-
Marsh, R.A.1
Villanueva, J.2
Zhang, K.3
-
29
-
-
33749349937
-
Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): Defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease
-
Marcenaro S, Gallo F, Martini S, et al. Analysis of natural killer-cell function in familial hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease. Blood. 2006;108(7):2316- 2323.
-
(2006)
Blood
, vol.108
, Issue.7
, pp. 2316-2323
-
-
Marcenaro, S.1
Gallo, F.2
Martini, S.3
-
30
-
-
34548814973
-
Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients
-
Bryceson YT, Rudd E, Zheng C, et al. Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients. Blood. 2007;110(6):1906- 1915.
-
(2007)
Blood
, vol.110
, Issue.6
, pp. 1906-1915
-
-
Bryceson, Y.T.1
Rudd, E.2
Zheng, C.3
-
31
-
-
33745633063
-
Lethal hemophagocytic lymphohistiocytosis in Hermansky- Pudlak syndrome type II
-
Enders A, Zieger B, Schwarz K, et al. Lethal hemophagocytic lymphohistiocytosis in Hermansky- Pudlak syndrome type II. Blood. 2006;108(1):81- 87.
-
(2006)
Blood
, vol.108
, Issue.1
, pp. 81-87
-
-
Enders, A.1
Zieger, B.2
Schwarz, K.3
-
32
-
-
0025905925
-
Cytotoxic T lymphocyte granules are secretory lysosomes, containing both perforin and granzymes
-
Peters PJ, Borst J, Oorschot V, et al. Cytotoxic T lymphocyte granules are secretory lysosomes, containing both perforin and granzymes. J Exp Med. 1991;173(5):1099-1109.
-
(1991)
J Exp Med
, vol.173
, Issue.5
, pp. 1099-1109
-
-
Peters, P.J.1
Borst, J.2
Oorschot, V.3
-
33
-
-
25844464180
-
Cytolytic granule polarization and degranulation controlled by different receptors in resting NK cells
-
Bryceson YT, March ME, Barber DF, Ljunggren HG, Long EO. Cytolytic granule polarization and degranulation controlled by different receptors in resting NK cells. J Exp Med. 2005;202(7):1001- 1012.
-
(2005)
J Exp Med
, vol.202
, Issue.7
, pp. 1001-1012
-
-
Bryceson, Y.T.1
March, M.E.2
Barber, D.F.3
Ljunggren, H.G.4
Long, E.O.5
-
34
-
-
0142185336
-
Sensitive and viable identification of antigen-specific CD8+ T cells by a flow cytometric assay for degranulation
-
DOI 10.1016/S0022-1759(03)00265-5
-
Betts MR, Brenchley JM, Price DA, et al. Sensitive and viable identification of antigen-specific CD8+ T cells by a flow cytometric assay for degranulation. J Immunol Methods. 2003;281(1-2): 65-78. (Pubitemid 37324571)
-
(2003)
Journal of Immunological Methods
, vol.281
, Issue.1-2
, pp. 65-78
-
-
Betts, M.R.1
Brenchley, J.M.2
Price, D.A.3
De Rosa, S.C.4
Douek, D.C.5
Roederer, M.6
Koup, R.A.7
-
35
-
-
10344255635
-
CD107a as a functional marker for the identification of natural killer cell activity
-
DOI 10.1016/j.jim.2004.08.008, PII S0022175904002923
-
Alter G, Malenfant JM, Altfeld M. CD107a as a functional marker for the identification of natural killer cell activity. J Immunol Methods. 2004; 294(1-2):15-22. (Pubitemid 39626587)
-
(2004)
Journal of Immunological Methods
, vol.294
, Issue.1-2
, pp. 15-22
-
-
Alter, G.1
Malenfant, J.M.2
Altfeld, M.3
-
36
-
-
70350497327
-
Minimal requirement for induction of natural cytotoxicity and intersection of activation signals by inhibitory receptors
-
Bryceson YT, Ljunggren HG, Long EO. Minimal requirement for induction of natural cytotoxicity and intersection of activation signals by inhibitory receptors. Blood. 2009;114(13):2657-2666.
-
(2009)
Blood
, vol.114
, Issue.13
, pp. 2657-2666
-
-
Bryceson, Y.T.1
Ljunggren, H.G.2
Long, E.O.3
-
37
-
-
77956305107
-
A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis
-
Wheeler RD, Cale CM, Cetica V, Arico M, Gilmour KC. A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis. Br J Haematol. 2010;150:727-30.
-
(2010)
Br J Haematol
, vol.150
, pp. 727-730
-
-
Wheeler, R.D.1
Cale, C.M.2
Cetica, V.3
Arico, M.4
Gilmour, K.C.5
-
38
-
-
79961135005
-
-
R Development Core Team. Vienna, Austria: R Foundation for Statistical Computing
-
R Development Core Team. R: A Language and Environment for Statistical Computing. Vienna, Austria: R Foundation for Statistical Computing; 2011.
-
(2011)
R: A Language and Environment for Statistical Computing
-
-
-
39
-
-
79952709519
-
PROC: An open-source package for R and S+ to analyze and compare ROC curves
-
Robin X, Turck N, Hainard A, et al. pROC: an open-source package for R and S+ to analyze and compare ROC curves. BMC Bioinformatics. 2011;12:77.
-
(2011)
BMC Bioinformatics
, vol.12
, pp. 77
-
-
Robin, X.1
Turck, N.2
Hainard, A.3
-
40
-
-
40649116705
-
Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis
-
DOI 10.1136/jmg.2007.054288
-
Rudd E, Bryceson YT, Zheng C, et al. Spectrum, and clinical and functional implications of UNC13D mutations in familial hemophagocytic lymphohistiocytosis. J Med Genet. 2008;45(3): 134-141. (Pubitemid 351373741)
-
(2008)
Journal of Medical Genetics
, vol.45
, Issue.3
, pp. 134-141
-
-
Rudd, E.1
Bryceson, Y.T.2
Zheng, C.3
Edner, J.4
Wood, S.M.5
Ramme, K.6
Gavhed, S.7
Gurgey, A.8
Hellebostad, M.9
Bechensteen, A.G.10
Ljunggren, H.-G.11
Fadeel, B.12
Nordenskjold, M.13
Henter, J.-I.14
-
41
-
-
77957954413
-
Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis (FHL) type 5 patients with mutations in STXBP2
-
Meeths M, Entesarian M, Al-Herz W, et al. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis (FHL) type 5 patients with mutations in STXBP2. Blood. 2010; 116(15):2635-2643.
-
(2010)
Blood
, vol.116
, Issue.15
, pp. 2635-2643
-
-
Meeths, M.1
Entesarian, M.2
Al-Herz, W.3
-
42
-
-
78649897442
-
Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases
-
Rohr J, Beutel K, Maul-Pavicic A, et al. Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. Haematologica. 2010;95(12):2080-2087.
-
(2010)
Haematologica
, vol.95
, Issue.12
, pp. 2080-2087
-
-
Rohr, J.1
Beutel, K.2
Maul-Pavicic, A.3
-
43
-
-
46849103879
-
Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3
-
DOI 10.3324/haematol.12622
-
Santoro A, Cannella S, Trizzino A, et al. Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3. Haematologica. 2008;93(7):1086-1090. (Pubitemid 351957028)
-
(2008)
Haematologica
, vol.93
, Issue.7
, pp. 1086-1090
-
-
Santoro, A.1
Cannella, S.2
Trizzino, A.3
Bruno, G.4
De Fusco, C.5
Notarangelo, L.D.6
Pende, D.7
Griffiths, G.M.8
Arico, M.9
-
44
-
-
82155184553
-
Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D
-
Meeths M, Chiang SC, Wood SM, et al. 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
-
45
-
-
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, et al. 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
-
46
-
-
79955540994
-
Genotypephenotype study of familial haemophagocytic lymphohistiocytosis type 3
-
Sieni E, Cetica V, Santoro A, et al. Genotypephenotype study of familial haemophagocytic lymphohistiocytosis type 3. J Med Genet. 2011; 48(5):343-352.
-
(2011)
J Med Genet
, vol.48
, Issue.5
, pp. 343-352
-
-
Sieni, E.1
Cetica, V.2
Santoro, A.3
-
47
-
-
77953269026
-
STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America
-
Marsh RA, Satake N, Biroschak J, et al. STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America. Pediatr Blood Cancer. 2010;55(1):134-140.
-
(2010)
Pediatr Blood Cancer
, vol.55
, Issue.1
, pp. 134-140
-
-
Marsh, R.A.1
Satake, N.2
Biroschak, J.3
-
48
-
-
79551628425
-
Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4)
-
Macartney CA, Weitzman S, Wood SM, et al. Unusual functional manifestations of a novel STX11 frameshift mutation in two infants with familial hemophagocytic lymphohistiocytosis type 4 (FHL4). Pediatr Blood Cancer. 2011;56(4):654-657.
-
(2011)
Pediatr Blood Cancer
, vol.56
, Issue.4
, pp. 654-657
-
-
Macartney, C.A.1
Weitzman, S.2
Wood, S.M.3
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