-
1
-
-
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, et al. Kostmann syndrome or infantile genetic agranulocytosis, part one: Celebrating 50 years of clinical and basic research on severe congenital neutropenia. Acta Paediatr 2006; 95: 1526-1532.
-
(2006)
Acta Paediatr
, vol.95
, pp. 1526-1532
-
-
Carlsson, G.1
Andersson, M.2
Pütsep, K.3
-
2
-
-
34249795200
-
Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia
-
Carlsson G, Melin M, Dahl N, et al. Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia. Acta Paediatr 2007; 96: 813-819.
-
(2007)
Acta Paediatr
, vol.96
, pp. 813-819
-
-
Carlsson, G.1
Melin, M.2
Dahl, N.3
-
4
-
-
77049235105
-
Infantile genetic agranulocytosis. A new recessive lethal disease in man
-
Kostmann R. Infantile genetic agranulocytosis. A new recessive lethal disease in man. Acta Paediatr 1956; 45: 1-78.
-
(1956)
Acta Paediatr
, vol.45
, pp. 1-78
-
-
Kostmann, R.1
-
5
-
-
0016612028
-
Infantile genetic agranulocytosis. A review with presentation of ten new cases
-
Kostmann R. Infantile genetic agranulocytosis. A review with presentation of ten new cases. Acta Paediatr 1975; 64: 362-368.
-
(1975)
Acta Paediatr
, vol.64
, pp. 362-368
-
-
Kostmann, R.1
-
6
-
-
0034307655
-
Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
-
Dale DC, Person RE, Bolyard AA, et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000; 96: 2317-2322.
-
(2000)
Blood
, vol.96
, pp. 2317-2322
-
-
Dale, D.C.1
Person, R.E.2
Bolyard, A.A.3
-
7
-
-
33845904894
-
HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)
-
Klein C, Grudzien M, Appaswamy G, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007; 39: 86-92.
-
(2007)
Nat Genet
, vol.39
, pp. 86-92
-
-
Klein, C.1
Grudzien, M.2
Appaswamy, G.3
-
8
-
-
0038757823
-
Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
-
Person RE, Li FQ, Duan Z, et al. Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2. Nat Genet 2003; 34: 308-312.
-
(2003)
Nat Genet
, vol.34
, pp. 308-312
-
-
Person, R.E.1
Li, F.Q.2
Duan, Z.3
-
9
-
-
0020642827
-
Allogeneic bone marrow transplantation
-
Storb R, Thomas ED. Allogeneic bone marrow transplantation. Immunol Rev 1983; 71: 77-102.
-
(1983)
Immunol Rev
, vol.71
, pp. 77-102
-
-
Storb, R.1
Thomas, E.D.2
-
10
-
-
33947684947
-
Fludarabine-based disease-specific conditioning or conventional myeloablative conditioning in hematopoietic stem-cell transplantation for treatment of non-malignant diseases
-
Ringdén O, Remberger M, Svenberg P, et al. Fludarabine-based disease-specific conditioning or conventional myeloablative conditioning in hematopoietic stem-cell transplantation for treatment of non-malignant diseases. Bone Marrow Transplant 2007; 39: 383-388.
-
(2007)
Bone Marrow Transplant
, vol.39
, pp. 383-388
-
-
Ringdén, O.1
Remberger, M.2
Svenberg, P.3
-
11
-
-
33645046392
-
Allogeneic hematopoietic stem cell transplantation for inherited disorders: Experience in a single-center
-
Ringdén O, Remberger M, Svahn B-M, et al. Allogeneic hematopoietic stem cell transplantation for inherited disorders: Experience in a single-center. Transplantation 2006; 81: 718-725.
-
(2006)
Transplantation
, vol.81
, pp. 718-725
-
-
Ringdén, O.1
Remberger, M.2
Svahn, B.3
-
12
-
-
33745096897
-
Severe Chronic Neutropenia International Registry. The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy
-
Rosenberg PS, Alter BP, Bolyard AA, et al. Severe Chronic Neutropenia International Registry. The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood 2006; 107: 4628-4635.
-
(2006)
Blood
, vol.107
, pp. 4628-4635
-
-
Rosenberg, P.S.1
Alter, B.P.2
Bolyard, A.A.3
-
13
-
-
37249056583
-
Neutrophil elastase mutations and risk of leukemia in severe congenital neutropenia
-
Rosenberg PS, Alter BP, Link DC, et al. Neutrophil elastase mutations and risk of leukemia in severe congenital neutropenia. Br J Haematol 2008; 140: 210-213.
-
(2008)
Br J Haematol
, vol.140
, pp. 210-213
-
-
Rosenberg, P.S.1
Alter, B.P.2
Link, D.C.3
-
14
-
-
0034086969
-
Management of Kostmann syndrome in the G-CSF era
-
Zeidler C, Boxer L, Dale DC, et al. Management of Kostmann syndrome in the G-CSF era. Br J Haematol 2000; 109: 490-495.
-
(2000)
Br J Haematol
, vol.109
, pp. 490-495
-
-
Zeidler, C.1
Boxer, L.2
Dale, D.C.3
-
15
-
-
0011982978
-
Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy
-
Freedman MH, Bonilla MA, Fier C, et al. Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. Blood 2000; 96: 429-436.
-
(2000)
Blood
, vol.96
, pp. 429-436
-
-
Freedman, M.H.1
Bonilla, M.A.2
Fier, C.3
-
16
-
-
58549087140
-
Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia
-
Zeidler C, Germeshausen M, Klein C, Welte K. Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia. Br J Haematol 2009; 144: 459-467.
-
(2009)
Br J Haematol
, vol.144
, pp. 459-467
-
-
Zeidler, C.1
Germeshausen, M.2
Klein, C.3
Welte, K.4
-
17
-
-
15544363068
-
Stem cell transplantation in patients with severe congenital neutropenia with evidence of leukemic transformation
-
Choi SW, Boxer LA, Pulsipher MA, et al. Stem cell transplantation in patients with severe congenital neutropenia with evidence of leukemic transformation. Bone Marrow Transplant 2005; 35: 473-477.
-
(2005)
Bone Marrow Transplant
, vol.35
, pp. 473-477
-
-
Choi, S.W.1
Boxer, L.A.2
Pulsipher, M.A.3
-
18
-
-
12244255076
-
Severe chronic neutropenia: Treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry
-
Dale DC, Cottle TE, Fier CJ, et al. Severe chronic neutropenia: Treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry. Am J Hematol 2003; 72: 82-93.
-
(2003)
Am J Hematol
, vol.72
, pp. 82-93
-
-
Dale, D.C.1
Cottle, T.E.2
Fier, C.J.3
-
19
-
-
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 AA, Ericson KG, et al. 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 2006; 91: 589-595.
-
(2006)
Haematologica
, vol.91
, pp. 589-595
-
-
Carlsson, G.1
Aprikyan, A.A.2
Ericson, K.G.3
-
20
-
-
0028210717
-
A randomized trial comparing busulphan with total body irradiation as conditioning in allogeneic marrow transplant recipients with leukemia. A report from the Nordic Bone Marrow Transplantation Group
-
Ringdén O, Ruutu T, Remberger M, et al. A randomized trial comparing busulphan with total body irradiation as conditioning in allogeneic marrow transplant recipients with leukemia. A report from the Nordic Bone Marrow Transplantation Group. Blood 1994; 83: 2723-2730.
-
(1994)
Blood
, vol.83
, pp. 2723-2730
-
-
Ringdén, O.1
Ruutu, T.2
Remberger, M.3
-
21
-
-
0032006125
-
Nonmyeloablative stem cell transplantation and cell therapy as an alternative to conventional bone marrow transplantation with lethal cytoreduction for the treatment of malignant and non-malignant hematologic disease
-
Slavin S, Nagler A, Naparstek E, et al. Nonmyeloablative stem cell transplantation and cell therapy as an alternative to conventional bone marrow transplantation with lethal cytoreduction for the treatment of malignant and non-malignant hematologic disease. Blood 1998; 91: 756-763.
-
(1998)
Blood
, vol.91
, pp. 756-763
-
-
Slavin, S.1
Nagler, A.2
Naparstek, E.3
-
22
-
-
0026693268
-
Long-term follow-up of three controlled trials comparing cyclosporine versus methotrexate for graft-versus-host disease prevention in patients given marrow grafts for leukemia
-
Storb R, Martin P, Deeg HJ, et al. Long-term follow-up of three controlled trials comparing cyclosporine versus methotrexate for graft-versus-host disease prevention in patients given marrow grafts for leukemia. Blood 1992; 79: 3091-3092.
-
(1992)
Blood
, vol.79
, pp. 3091-3092
-
-
Storb, R.1
Martin, P.2
Deeg, H.J.3
-
23
-
-
0032870036
-
Low-dose cyclosporine of short duration increases the risk of mild and moderate GVHD and reduces the risk of relapse in HLA-identical sibling marrow transplant recipients with leukemia
-
Carlens S, Aschan J, Remberger M, et al. Low-dose cyclosporine of short duration increases the risk of mild and moderate GVHD and reduces the risk of relapse in HLA-identical sibling marrow transplant recipients with leukemia. Bone Marrow Transplant 1999; 24: 629-635.
-
(1999)
Bone Marrow Transplant
, vol.24
, pp. 629-635
-
-
Carlens, S.1
Aschan, J.2
Remberger, M.3
-
24
-
-
57049148499
-
Unrelated cord blood and mismatched unrelated donor transplants, two alternatives in patients who lack an HLA-identical donor
-
Ringdén O, Okas M, Uhlin M, et al. Unrelated cord blood and mismatched unrelated donor transplants, two alternatives in patients who lack an HLA-identical donor. Bone Marrow Transplant 2008; 42: 643-648.
-
(2008)
Bone Marrow Transplant
, vol.42
, pp. 643-648
-
-
Ringdén, O.1
Okas, M.2
Uhlin, M.3
-
25
-
-
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, et al. Central nervous system involvement in severe congenital neutropenia: Neurological and neuropsychological abnormalities associated with specific HAX1 mutations. J Intern Med 2008; 264: 388-400.
-
(2008)
J Intern Med
, vol.264
, pp. 388-400
-
-
Carlsson, G.1
Van't Hooft, I.2
Melin, M.3
-
26
-
-
33845967069
-
Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden
-
Melin M, Entesarian M, Carlsson G, et al. Assignment of the gene locus for severe congenital neutropenia to chromosome 1q22 in the original Kostmann family from Northern Sweden. Biochem Biophys Res Commun 2007; 353: 571-575.
-
(2007)
Biochem Biophys Res Commun
, vol.353
, pp. 571-575
-
-
Melin, M.1
Entesarian, M.2
Carlsson, G.3
-
27
-
-
0018842744
-
Correction of infantile agranulocytosis (Kostmann's syndrome) by allogeneic bone marrow transplantation
-
Rappeport JM, Parkman R, Newburger P, et al. Correction of infantile agranulocytosis (Kostmann's syndrome) by allogeneic bone marrow transplantation. Am J Med 1980; 68: 605-609.
-
(1980)
Am J Med
, vol.68
, pp. 605-609
-
-
Rappeport, J.M.1
Parkman, R.2
Newburger, P.3
-
28
-
-
0034651925
-
Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation
-
Zeidler C, Welte K, Barak Y, et al. Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation. Blood 2000; 95: 1195-1198.
-
(2000)
Blood
, vol.95
, pp. 1195-1198
-
-
Zeidler, C.1
Welte, K.2
Barak, Y.3
-
29
-
-
19944427804
-
Hematopoietic stem cell transplantation in severe congenital neutropenia: Experience of the French SCN register
-
Ferry C, Ouachée M, Leblanc T, et al. Hematopoietic stem cell transplantation in severe congenital neutropenia: Experience of the French SCN register. Bone Marrow Transplant 2005; 35: 45-50.
-
(2005)
Bone Marrow Transplant
, vol.35
, pp. 45-50
-
-
Ferry, C.1
Ouachée, M.2
Leblanc, T.3
-
30
-
-
57049148499
-
Unrelated cord blood and mismatched unrelated volunteer donor transplants, two alternatives in patients who lack an HLA-identical donor
-
Ringdén O, Okas M, Uhlin M, et al. Unrelated cord blood and mismatched unrelated volunteer donor transplants, two alternatives in patients who lack an HLA-identical donor. Bone Marrow Transplant 2008; 42: 643-648.
-
(2008)
Bone Marrow Transplant
, vol.42
, pp. 643-648
-
-
Ringdén, O.1
Okas, M.2
Uhlin, M.3
-
31
-
-
9244219607
-
Transplants of umbilical-cord blood or bone marrow from unrelated donors in adults with acute leukemia
-
Rocha V, Labopin M, Sanz G, et al. Transplants of umbilical-cord blood or bone marrow from unrelated donors in adults with acute leukemia. N Engl J Med 2004; 351: 2276-2285.
-
(2004)
N Engl J Med
, vol.351
, pp. 2276-2285
-
-
Rocha, V.1
Labopin, M.2
Sanz, G.3
-
32
-
-
33750166385
-
Unrelated bone marrow transplantation using a reduced-intensity conditioning regimen for the treatment of Kostmann syndrome
-
Fukano R, Nagatoshi Y, Shinkoda Y, et al. Unrelated bone marrow transplantation using a reduced-intensity conditioning regimen for the treatment of Kostmann syndrome. Bone Marrow Transplant 2006; 38: 635-636.
-
(2006)
Bone Marrow Transplant
, vol.38
, pp. 635-636
-
-
Fukano, R.1
Nagatoshi, Y.2
Shinkoda, Y.3
-
33
-
-
0014882993
-
Congenital agranulocytosis: Prolonged survival and terminal acute leukemia
-
Gilman PA, Jackson DP, Guild HG. Congenital agranulocytosis: Prolonged survival and terminal acute leukemia. Blood 1970; 36: 576-585.
-
(1970)
Blood
, vol.36
, pp. 576-585
-
-
Gilman, P.A.1
Jackson, D.P.2
Guild, H.G.3
-
34
-
-
0032146530
-
Increased granulocyte colony-stimulating factor responsiveness but normal resting granulopoiesis in mice carrying a targeted granulocyte colony-stimulating factor receptor mutation derived from a patient with severe congenital neutropenia
-
McLemore ML, Poursine-Laurent J, Link DC. Increased granulocyte colony-stimulating factor responsiveness but normal resting granulopoiesis in mice carrying a targeted granulocyte colony-stimulating factor receptor mutation derived from a patient with severe congenital neutropenia. J Clin Invest 1998; 102: 483-492.
-
(1998)
J Clin Invest
, vol.102
, pp. 483-492
-
-
McLemore, M.L.1
Poursine-Laurent, J.2
Link, D.C.3
-
35
-
-
0033557171
-
Sustained receptor activation and hyperproliferation in response to granulocyte colony-stimulating factor (G-CSF) in mice with a severe congenital neutropenia/acute myeloid leukemia-derived mutation in the G-CSF receptor gene
-
Hermans MH, Antonissen C, Ward AC, et al. Sustained receptor activation and hyperproliferation in response to granulocyte colony-stimulating factor (G-CSF) in mice with a severe congenital neutropenia/acute myeloid leukemia-derived mutation in the G-CSF receptor gene. J Exp Med 1999; 189: 683-692.
-
(1999)
J Exp Med
, vol.189
, pp. 683-692
-
-
Hermans, M.H.1
Antonissen, C.2
Ward, A.C.3
-
36
-
-
0034837122
-
Successful unrelated BMT in a patient with Kostmann syndrome complicated by pre-transplant pulmonary 'bacterial' abscesses
-
Toyoda H, Azuma E, Hori H, et al. Successful unrelated BMT in a patient with Kostmann syndrome complicated by pre-transplant pulmonary 'bacterial' abscesses. Bone Marrow Transplant 2001; 28: 413-415.
-
(2001)
Bone Marrow Transplant
, vol.28
, pp. 413-415
-
-
Toyoda, H.1
Azuma, E.2
Hori, H.3
-
37
-
-
0038556845
-
Uneventful outcome of unrelated hematopoietic stem cell transplantation in a patient with leukemic transformation of Kostmann syndrome and long-lasting invasive pulmonary mycosis
-
Dallorso S, Manzitti C, Dodero P, et al. Uneventful outcome of unrelated hematopoietic stem cell transplantation in a patient with leukemic transformation of Kostmann syndrome and long-lasting invasive pulmonary mycosis. Eur J Haematol 2003; 70: 322-325.
-
(2003)
Eur J Haematol
, vol.70
, pp. 322-325
-
-
Dallorso, S.1
Manzitti, C.2
Dodero, P.3
-
38
-
-
2442656658
-
Umbilical cord blood stem cell transplantation from unrelated HLA-matched donor in an infant with severe congenital neutropenia
-
Mino E, Kobayashi R, Yoshida M, et al. Umbilical cord blood stem cell transplantation from unrelated HLA-matched donor in an infant with severe congenital neutropenia. Bone Marrow Transplant 2004; 33: 969-971.
-
(2004)
Bone Marrow Transplant
, vol.33
, pp. 969-971
-
-
Mino, E.1
Kobayashi, R.2
Yoshida, M.3
-
39
-
-
6944222733
-
Successful unrelated cord blood transplantation using a reduced-intensity conditioning regimen in a 6-month-old infant with congenital neutropenia complicated by severe pneumonia
-
Nakazawa Y, Sakashita K, Kinoshita M, et al. Successful unrelated cord blood transplantation using a reduced-intensity conditioning regimen in a 6-month-old infant with congenital neutropenia complicated by severe pneumonia. Int J Hematol 2004; 80: 287-290.
-
(2004)
Int J Hematol
, vol.80
, pp. 287-290
-
-
Nakazawa, Y.1
Sakashita, K.2
Kinoshita, M.3
-
40
-
-
33750165738
-
Successful stem cell transplantation in an infant with severe congenital neutropenia complicated by pretransplant inflammatory pseudotumor of the liver
-
Cojean N, Blondet C, Marcellin L, et al. Successful stem cell transplantation in an infant with severe congenital neutropenia complicated by pretransplant inflammatory pseudotumor of the liver. Bone Marrow Transplant 2006; 38: 641-643.
-
(2006)
Bone Marrow Transplant
, vol.38
, pp. 641-643
-
-
Cojean, N.1
Blondet, C.2
Marcellin, L.3
-
41
-
-
40449115706
-
Non-myeloablative transplantation for severe congenital neutropenia
-
Thachil J, Caswell M, Bolton-Maggs PH, et al. Non-myeloablative transplantation for severe congenital neutropenia. Pediatr Blood Cancer 2008; 50: 920-921.
-
(2008)
Pediatr Blood Cancer
, vol.50
, pp. 920-921
-
-
Thachil, J.1
Caswell, M.2
Bolton-Maggs, P.H.3
-
42
-
-
54849426411
-
Unrelated cord blood transplantation for severe congenital neutropenia: Report of two cases with very different transplant courses
-
Markel MK, Haut PR, Renbarger JA, et al. Unrelated cord blood transplantation for severe congenital neutropenia: Report of two cases with very different transplant courses. Pediatr Transplant 2008; 12: 896-901.
-
(2008)
Pediatr Transplant
, vol.12
, pp. 896-901
-
-
Markel, M.K.1
Haut, P.R.2
Renbarger, J.A.3
-
43
-
-
68849113183
-
Unrelated cord blood transplantation in children with severe congenital neutropenia
-
Yesilipek MA, Tezcan G, Germeshausen M, et al. Unrelated cord blood transplantation in children with severe congenital neutropenia. Pediatr Transplant 2009; 13: 777-781.
-
(2009)
Pediatr Transplant
, vol.13
, pp. 777-781
-
-
Yesilipek, M.A.1
Tezcan, G.2
Germeshausen, M.3
|