-
1
-
-
84861813715
-
Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia
-
[Epub ahead of print]. doi: 10.1182/blood-2012-01-406116.
-
Beekman, R., Valkhof, M.G., Sanders, M.A., van Strien, P.M., Haanstra, J.R., Broeders, L., Geertsma-Kleinekoort, W.M., Veerman, A.J., Valk, P.J., Verhaak, R.G., Löwenberg, B. & Touw, I.P. (2012) Sequential gain of mutations in severe congenital neutropenia progressing to acute myeloid leukemia. Blood [Epub ahead of print]. doi: 10.1182/blood-2012-01-406116.
-
(2012)
Blood
-
-
Beekman, R.1
Valkhof, M.G.2
Sanders, M.A.3
van Strien, P.M.4
Haanstra, J.R.5
Broeders, L.6
Geertsma-Kleinekoort, W.M.7
Veerman, A.J.8
Valk, P.J.9
Verhaak, R.G.10
Löwenberg, B.11
Touw, I.P.12
-
2
-
-
70349645650
-
G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia
-
Beel, K. & Vandenberghe, P. (2009) G-CSF receptor (CSF3R) mutations in X-linked neutropenia evolving to acute myeloid leukemia or myelodysplasia. Haematologica, 94, 1449-1452.
-
(2009)
Haematologica
, vol.94
, pp. 1449-1452
-
-
Beel, K.1
Vandenberghe, P.2
-
3
-
-
33846109356
-
A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14
-
Bohn, G., Allroth, A., Brandes, G., Thiel, J., Glocker, E., Schäffer, A.A., Rathinam, C., Taub, N., Teis, D., Zeidler, C., Dewey, R.A., Geffers, R., Buer, J., Huber, L.A., Welte, K., Grimbacher, B. & Klein, C. (2007a) A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nature Medicine, 13, 38-45.
-
(2007)
Nature Medicine
, vol.13
, pp. 38-45
-
-
Bohn, G.1
Allroth, A.2
Brandes, G.3
Thiel, J.4
Glocker, E.5
Schäffer, A.A.6
Rathinam, C.7
Taub, N.8
Teis, D.9
Zeidler, C.10
Dewey, R.A.11
Geffers, R.12
Buer, J.13
Huber, L.A.14
Welte, K.15
Grimbacher, B.16
Klein, C.17
-
4
-
-
34948886663
-
Severe congenital neutropenia: new genes explain an old disease
-
Bohn, G., Welte, K. & Klein, C. (2007b) Severe congenital neutropenia: new genes explain an old disease. Current Opinion in Rheumatology, 19, 644-650.
-
(2007)
Current Opinion in Rheumatology
, vol.19
, pp. 644-650
-
-
Bohn, G.1
Welte, K.2
Klein, C.3
-
5
-
-
58249089770
-
A syndrome with congenital neutropenia and mutations in G6PC3
-
Boztug, K., Appaswamy, G., Ashikov, A., Schäffer, A.A., Salzer, U., Diestelhorst, J., Germeshausen, M., Brandes, G., Lee-Gossler, J., Noyan, F., Gatzke, A.K., Minkov, M., Greil, J., Kratz, C., Petropoulou, T., Pellier, I., Bellanné-Chantelot, C., Rezaei, N., Mönkemöller, K., Irani-Hakimeh, N., Bakker, H., Gerardy-Schahn, R., Zeidler, C., Grimbacher, B., Welte, K. & Klein, C. (2009) A syndrome with congenital neutropenia and mutations in G6PC3. New England Journal of Medicine, 360, 32-43.
-
(2009)
New England Journal of Medicine
, vol.360
, pp. 32-43
-
-
Boztug, K.1
Appaswamy, G.2
Ashikov, A.3
Schäffer, A.A.4
Salzer, U.5
Diestelhorst, J.6
Germeshausen, M.7
Brandes, G.8
Lee-Gossler, J.9
Noyan, F.10
Gatzke, A.K.11
Minkov, M.12
Greil, J.13
Kratz, C.14
Petropoulou, T.15
Pellier, I.16
Bellanné-Chantelot, C.17
Rezaei, N.18
Mönkemöller, K.19
Irani-Hakimeh, N.20
Bakker, H.21
Gerardy-Schahn, R.22
Zeidler, C.23
Grimbacher, B.24
Welte, K.25
Klein, C.26
more..
-
6
-
-
0034899047
-
Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original 'Kostmann family' and a review
-
Carlsson, G. & Fasth, A. (2001) Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original 'Kostmann family' and a review. Acta Paediatrica, 90, 757-764.
-
(2001)
Acta Paediatrica
, vol.90
, pp. 757-764
-
-
Carlsson, G.1
Fasth, A.2
-
7
-
-
33845274520
-
Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia
-
Carlsson, G., Andersson, M., Pütsep, K., Garwicz, D., Nordenskjöld, M., Henter, J.-I., Palmblad, J. & Fadeel, B. (2006a) Kostmann syndrome or infantile genetic agranulocytosis, part one: celebrating 50 years of clinical and basic research on severe congenital neutropenia. Acta Paediatrica, 95, 1526-1532.
-
(2006)
Acta Paediatrica
, vol.95
, pp. 1526-1532
-
-
Carlsson, G.1
Andersson, M.2
Pütsep, K.3
Garwicz, D.4
Nordenskjöld, M.5
Henter, J.-I.6
Palmblad, J.7
Fadeel, B.8
-
8
-
-
33744458693
-
Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden
-
Carlsson, G., Aprikyan, A.A., Ericson, K.G., Stein, S., Makaryan, V., Dale, D.C., Nordenskjöld, M., Fadeel, B., Palmblad, J. & Henter, J.-I. (2006b) Neutrophil elastase and granulocyte colony-stimulating factor receptor mutation analyses and leukemia evolution in severe congenital neutropenia patients belonging to the original Kostmann family in northern Sweden. Haematologica, 91, 589-595.
-
(2006)
Haematologica
, vol.91
, pp. 589-595
-
-
Carlsson, G.1
Aprikyan, A.A.2
Ericson, K.G.3
Stein, S.4
Makaryan, V.5
Dale, D.C.6
Nordenskjöld, M.7
Fadeel, B.8
Palmblad, J.9
Henter, J.-I.10
-
9
-
-
34249795200
-
Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia
-
Carlsson, G., Melin, M., Dahl, N., Ramme, KG., Nordenskjöld, M., Palmblad, J., Henter, J.-I. & Fadeel, B. (2007) Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia. Acta Paediatrica, 96, 813-819.
-
(2007)
Acta Paediatrica
, vol.96
, pp. 813-819
-
-
Carlsson, G.1
Melin, M.2
Dahl, N.3
Ramme, K.G.4
Nordenskjöld, M.5
Palmblad, J.6
Henter, J.-I.7
Fadeel, B.8
-
10
-
-
51649124219
-
Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations
-
Carlsson, G., Van't Hooft, I., Melin, M., Entesarian, M., Laurencikas, E., Nennesmo, I., Tre{ogonek}bińska, A., Grzybowska, E., Palmblad, J., Dahl, N., Nordenskjöld, M., Fadeel, B. & Henter, J.-I. (2008) Central nervous system involvement in severe congenital neutropenia: neurological and neuropsychological abnormalities associated with specific HAX1 mutations. Journal of Internal Medicine, 264, 388-400.
-
(2008)
Journal of Internal Medicine
, vol.264
, pp. 388-400
-
-
Carlsson, G.1
Van't Hooft, I.2
Melin, M.3
Entesarian, M.4
Laurencikas, E.5
Nennesmo, I.6
Trebińska, A.7
Grzybowska, E.8
Palmblad, J.9
Dahl, N.10
Nordenskjöld, M.11
Fadeel, B.12
Henter, J.-I.13
-
11
-
-
71049157650
-
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities
-
Carlsson, G., Elinder, G., Malmgren, H., Trebinska, A., Grzybowska, E., Dahl, N., Nordenskjöld, M. & Fadeel, B. (2009) Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities. Pediatric Blood & Cancer, 53, 1143-1146.
-
(2009)
Pediatric Blood & Cancer
, vol.53
, pp. 1143-1146
-
-
Carlsson, G.1
Elinder, G.2
Malmgren, H.3
Trebinska, A.4
Grzybowska, E.5
Dahl, N.6
Nordenskjöld, M.7
Fadeel, B.8
-
12
-
-
78651094965
-
Hematopoietic stem cell transplantation in severe congenital neutropenia
-
Carlsson, G., Winiarski, J., Ljungman, P., Ringdén, O., Mattsson, J., Nordenskjöld, M., Touw, I., Henter, JI., Palmblad, J., Fadeel, B. & Hägglund, H. (2011) Hematopoietic stem cell transplantation in severe congenital neutropenia. Pediatric Blood & Cancer, 56, 444-451.
-
(2011)
Pediatric Blood & Cancer
, vol.56
, pp. 444-451
-
-
Carlsson, G.1
Winiarski, J.2
Ljungman, P.3
Ringdén, O.4
Mattsson, J.5
Nordenskjöld, M.6
Touw, I.7
Henter, J.I.8
Palmblad, J.9
Fadeel, B.10
Hägglund, H.11
-
13
-
-
0034307655
-
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
-
Dale, D.C., Person, R.E., Bolyard, A.A., Aprikyan, A.G., Bos, C., Bonilla, M.A., Boxer, L.A., Kannourakis, G., Zeidler, C., Welte, K., Benson, K.F. & Horwitz, M. (2000) Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood, 96, 2317-2322.
-
(2000)
Blood
, vol.96
, pp. 2317-2322
-
-
Dale, D.C.1
Person, R.E.2
Bolyard, A.A.3
Aprikyan, A.G.4
Bos, C.5
Bonilla, M.A.6
Boxer, L.A.7
Kannourakis, G.8
Zeidler, C.9
Welte, K.10
Benson, K.F.11
Horwitz, M.12
-
14
-
-
33749478463
-
The Severe Chronic Neutropenia International Registry: 10-year follow-up report
-
Dale, D.C., Bolyard, A.A., Schwinzer, B.G., Pracht, G., Bonilla, M.A., Boxer, L., Freedman, M.H., Donadieu, J., Kannourakis, G., Alter, B.P., Cham, B.P., Winkelstein, J., Kinsey, S.E., Zeidler, C. & Welte, K. (2006) The Severe Chronic Neutropenia International Registry: 10-year follow-up report. Supportive Cancer Therapy, 3, 220-231.
-
(2006)
Supportive Cancer Therapy
, vol.3
, pp. 220-231
-
-
Dale, D.C.1
Bolyard, A.A.2
Schwinzer, B.G.3
Pracht, G.4
Bonilla, M.A.5
Boxer, L.6
Freedman, M.H.7
Donadieu, J.8
Kannourakis, G.9
Alter, B.P.10
Cham, B.P.11
Winkelstein, J.12
Kinsey, S.E.13
Zeidler, C.14
Welte, K.15
-
15
-
-
0035093787
-
Constitutively activating mutation in WASP causes Xlinked severe congenital neutropenia
-
Devriendt, K., Kim, A.S., Mathijs, G., Frints, S.G., Schwartz, M., Van Den Oord, J.J., Verhoef, G.E., Boogaerts, M.A., Fryns, J.P., You, D., Rosen, M.K. & Vandenberghe, P. (2001) Constitutively activating mutation in WASP causes Xlinked severe congenital neutropenia. Nature Genetics, 27, 313-317.
-
(2001)
Nature Genetics
, vol.27
, pp. 313-317
-
-
Devriendt, K.1
Kim, A.S.2
Mathijs, G.3
Frints, S.G.4
Schwartz, M.5
Van Den Oord, J.J.6
Verhoef, G.E.7
Boogaerts, M.A.8
Fryns, J.P.9
You, D.10
Rosen, M.K.11
Vandenberghe, P.12
-
16
-
-
19944430855
-
Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group
-
French Severe Chronic Neutropenia Study Group
-
Donadieu, J., Leblanc, T., Bader Meunier, B., Barkaoui, M., Fenneteau, O., Bertrand, Y., Maier-Redelsperger, M., Micheau, M., Stephan, J.L., Phillipe, N., Bordigoni, P., Babin-Boilletot, A., Bensaid, P., Manel, A.M., Vilmer, E., Thuret, I., Blanche, S., Gluckman, E., Fischer, A., Mechinaud, F., Joly, B., Lamy, T., Hermine, O., Cassinat, B., Bellanné-Chantelot, C. & Chomienne, C.; French Severe Chronic Neutropenia Study Group. (2005) Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica, 90, 45-53.
-
(2005)
Haematologica
, vol.90
, pp. 45-53
-
-
Donadieu, J.1
Leblanc, T.2
Bader Meunier, B.3
Barkaoui, M.4
Fenneteau, O.5
Bertrand, Y.6
Maier-Redelsperger, M.7
Micheau, M.8
Stephan, J.L.9
Phillipe, N.10
Bordigoni, P.11
Babin-Boilletot, A.12
Bensaid, P.13
Manel, A.M.14
Vilmer, E.15
Thuret, I.16
Blanche, S.17
Gluckman, E.18
Fischer, A.19
Mechinaud, F.20
Joly, B.21
Lamy, T.22
Hermine, O.23
Cassinat, B.24
Bellanné-Chantelot, C.25
Chomienne, C.26
more..
-
17
-
-
0030728921
-
Mutation characterization and genotype-phenotype correlation in Barth syndrome
-
Johnston, J., Kelley, R.I., Feigenbaum, A., Cox, G.F., Iyer, G.S., Funanage, V.L. & Proujansky, R. (1997) Mutation characterization and genotype-phenotype correlation in Barth syndrome. The American Journal of Human Genetics, 61, 1053-1058.
-
(1997)
The American Journal of Human Genetics
, vol.61
, pp. 1053-1058
-
-
Johnston, J.1
Kelley, R.I.2
Feigenbaum, A.3
Cox, G.F.4
Iyer, G.S.5
Funanage, V.L.6
Proujansky, R.7
-
18
-
-
33947517620
-
Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia
-
Karlsson, J., Carlsson, G., Ramme, K.G., Hägglund, H., Fadeel, B., Nordenskjöld, M., Henter, J.-I., Palmblad, J., Pütsep, K. & Andersson, M. (2007) Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia. British Journal of Haematology, 137, 166-169.
-
(2007)
British Journal of Haematology
, vol.137
, pp. 166-169
-
-
Karlsson, J.1
Carlsson, G.2
Ramme, K.G.3
Hägglund, H.4
Fadeel, B.5
Nordenskjöld, M.6
Henter, J.-I.7
Palmblad, J.8
Pütsep, K.9
Andersson, M.10
-
19
-
-
33845904894
-
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
-
Klein, C., Grudzien, M., Appaswamy, G., Germeshausen, M., Sandrock, I., Schäffer, A.A., Rathinam, C., Boztug, K., Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson, G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J.-I., Zeidler, C., Grimbacher, B. & Welte, K. (2007) HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nature Genetics, 39, 86-92.
-
(2007)
Nature Genetics
, vol.39
, pp. 86-92
-
-
Klein, C.1
Grudzien, M.2
Appaswamy, G.3
Germeshausen, M.4
Sandrock, I.5
Schäffer, A.A.6
Rathinam, C.7
Boztug, K.8
Schwinzer, B.9
Rezaei, N.10
Bohn, G.11
Melin, M.12
Carlsson, G.13
Fadeel, B.14
Dahl, N.15
Palmblad, J.16
Henter, J.-I.17
Zeidler, C.18
Grimbacher, B.19
Welte, K.20
more..
-
20
-
-
77049235105
-
Infantile genetic agranulocytosis
-
Kostmann, R. (1956) Infantile genetic agranulocytosis. Acta Paediatrica Scandinavica, 45(Suppl. 105), 1-78.
-
(1956)
Acta Paediatrica Scandinavica
, vol.45
, Issue.SUPPL. 105
, pp. 1-78
-
-
Kostmann, R.1
-
21
-
-
0016612028
-
Infantile genetic agranulocytosis
-
Kostmann, R. (1975) Infantile genetic agranulocytosis. Acta Paediatrica Scandinavica, 64, 362-368.
-
(1975)
Acta Paediatrica Scandinavica
, vol.64
, pp. 362-368
-
-
Kostmann, R.1
-
22
-
-
70350455104
-
Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy
-
Lundén, L., Boxhammer, S., Carlsson, G., Ellström, K.G., Nordenskjöld, M., Lagerstedt-Robinson, K. & Fadeel, B. (2009) Double de novo mutations of ELANE (ELA2) in a patient with severe congenital neutropenia requiring high-dose G-CSF therapy. British Journal of Haematology, 147, 587-590.
-
(2009)
British Journal of Haematology
, vol.147
, pp. 587-590
-
-
Lundén, L.1
Boxhammer, S.2
Carlsson, G.3
Ellström, K.G.4
Nordenskjöld, M.5
Lagerstedt-Robinson, K.6
Fadeel, B.7
-
23
-
-
79953782648
-
-
National Board of Health and Welfare in Sweden. Socialstyrelsen, Stockholm, Sweden.
-
National Board of Health and Welfare in Sweden. (2009) Swedish Medical Birth Register 1973-2008. Socialstyrelsen, Stockholm, Sweden.
-
(2009)
Swedish Medical Birth Register 1973-2008
-
-
-
24
-
-
0038757823
-
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
-
Person, R.E., Li, F.Q., Duan, Z., Benson, K.F., Wechsler, J., Papadaki, H.A., Eliopoulos, G., Kaufman, C., Bertolone, S.J., Nakamoto, B., Papayannopoulou, T., Grimes, H.L. & Horwitz, M. (2003) Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nature Genetics, 34, 308-312.
-
(2003)
Nature Genetics
, vol.34
, pp. 308-312
-
-
Person, R.E.1
Li, F.Q.2
Duan, Z.3
Benson, K.F.4
Wechsler, J.5
Papadaki, H.A.6
Eliopoulos, G.7
Kaufman, C.8
Bertolone, S.J.9
Nakamoto, B.10
Papayannopoulou, T.11
Grimes, H.L.12
Horwitz, M.13
-
25
-
-
77954324689
-
Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy
-
Rosenberg, P.S., Zeidler, C., Bolyard, A.A., Alter, B.P., Bonilla, M.A., Boxer, L.A., Dror, Y., Kinsey, S., Link, D.C., Newburger, P.E., Shimamura, A., Welte, K. & Dale, D.C. (2010) Stable long-term risk of leukaemia in patients with severe congenital neutropenia maintained on G-CSF therapy. British Journal of Haematology, 150, 196-199.
-
(2010)
British Journal of Haematology
, vol.150
, pp. 196-199
-
-
Rosenberg, P.S.1
Zeidler, C.2
Bolyard, A.A.3
Alter, B.P.4
Bonilla, M.A.5
Boxer, L.A.6
Dror, Y.7
Kinsey, S.8
Link, D.C.9
Newburger, P.E.10
Shimamura, A.11
Welte, K.12
Dale, D.C.13
-
26
-
-
58849137097
-
Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds
-
Smith, B.N., Ancliff, P.J., Pizzey, A., Khwaja, A., Linch, D.C. & Gale, R.E. (2009) Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds. British Journal of Haematology, 144, 762-770.
-
(2009)
British Journal of Haematology
, vol.144
, pp. 762-770
-
-
Smith, B.N.1
Ancliff, P.J.2
Pizzey, A.3
Khwaja, A.4
Linch, D.C.5
Gale, R.E.6
-
29
-
-
70350435426
-
Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia
-
Xia, J., Bolyard, A.A., Rodger, E., Stein, S., Aprikyan, A.A., Dale, D.C. & Link, DC. (2009) Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia. British Journal of Haematology, 147, 535-542.
-
(2009)
British Journal of Haematology
, vol.147
, pp. 535-542
-
-
Xia, J.1
Bolyard, A.A.2
Rodger, E.3
Stein, S.4
Aprikyan, A.A.5
Dale, D.C.6
Link, D.C.7
-
30
-
-
0034086969
-
Management of Kostmann syndrome in the G-CSF era (Review)
-
Zeidler, C., Boxer, L., Dale, D.C., Freedman, M.H., Kinsey, S. & Welte, K. (2000) Management of Kostmann syndrome in the G-CSF era (Review). British Journal of Haematology, 109, 490-495.
-
(2000)
British Journal of Haematology
, vol.109
, pp. 490-495
-
-
Zeidler, C.1
Boxer, L.2
Dale, D.C.3
Freedman, M.H.4
Kinsey, S.5
Welte, K.6
-
31
-
-
58549087140
-
Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia
-
Zeidler, C., Germeshausen, M., Klein, C. & Welte, K. (2009) Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. British Journal of Haematology, 144, 459-467.
-
(2009)
British Journal of Haematology
, vol.144
, pp. 459-467
-
-
Zeidler, C.1
Germeshausen, M.2
Klein, C.3
Welte, K.4
|