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Prevalence of chronic idiopathic neutropenia of adults among an apparently healthy population living on the island of Crete
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Increased serum IgA and decreased IgG3 strongly correlate with increased serum TGF-beta1 levels in patients with nonimmune chronic idiopathic neutropenia of adults
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Papadaki HA, Palmblad J, Kapsimali V, et al. Increased serum IgA and decreased IgG3 strongly correlate with increased serum TGF-beta1 levels in patients with nonimmune chronic idiopathic neutropenia of adults. Eur J Haematol 2000; 65:237-244.
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Chronic mild neutropenia in adults: Relation to IgG3 deficiency and infection susceptibility
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Subgingival microflora and treatment in prepubertal periodontitis associated with chronic idiopathic neutropenia
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Zaromb A, Chamberlain D, Schoor R, et al. Periodontitis as a manifestation of chronic benign neutropenia. J Periodontol 2006; 77:1921-1926.
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Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia
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Carlsson G, Wahlin YB, Johansson A, et al. Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia. J Periodontol 2006; 77:744-751.
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Karlsson J, Carlsson G, Ramme KG, et al. Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia. Br J Haematol 2007; 137:166-169. In this interesting study the authors suggest that evaluation of plasma levels of the neutrophil-derived protein pro-LL-37 may represent a test to differentiate different categories of chronic neutropenia.
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Karlsson J, Carlsson G, Ramme KG, et al. Low plasma levels of the protein pro-LL-37 as an early indication of severe disease in patients with chronic neutropenia. Br J Haematol 2007; 137:166-169. In this interesting study the authors suggest that evaluation of plasma levels of the neutrophil-derived protein pro-LL-37 may represent a test to differentiate different categories of chronic neutropenia.
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15
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Chronic idiopathic neutropenia of adults is associated with decreased bone mineral density and alterations in bone turnover biochemical markers
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Papadaki HA, Margioris AN, Miliaki M, et al. Chronic idiopathic neutropenia of adults is associated with decreased bone mineral density and alterations in bone turnover biochemical markers. Eur J Haematol 1999; 62:311-316.
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Papadaki, H.A.1
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Miliaki, M.3
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16
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Alendronate reduces serum TNFalpha and IL-1beta, increases neutrophil counts, and improves bone mineral density and bone metabolism indices in patients with chronic idiopathic neutropenia (CIN)-associated osteopenia/osteoporosis
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Papadaki HA, Tsatsanis C, Christoforidou A, et al. Alendronate reduces serum TNFalpha and IL-1beta, increases neutrophil counts, and improves bone mineral density and bone metabolism indices in patients with chronic idiopathic neutropenia (CIN)-associated osteopenia/osteoporosis. J Bone Miner Metab 2004; 22:577-587.
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Two case studies of chronic idiopathic neutropenia preceding acute myeloid leukaemia
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Auner, H.W.1
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18
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Two patients with nonimmune chronic idiopathic neutropenia of adults developing acute myeloid leukemia with aberrant phenotype and complex karyotype but no mutations in granulocyte colony-stimulating factor receptor
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Papadaki HA, Kosteas T, Gemetzi C, et al. Two patients with nonimmune chronic idiopathic neutropenia of adults developing acute myeloid leukemia with aberrant phenotype and complex karyotype but no mutations in granulocyte colony-stimulating factor receptor. Ann Hematol 2002; 81:50-54.
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Ann Hematol
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Papadaki, H.A.1
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19
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Acute myeloid/NK precursor cell leukemia with trisomy 4 and a novel point mutation in the extracellular domain of the G-CSF receptor in a patient with chronic idiopathic neutropenia
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Papadaki HA, Kosteas T, Gemetzi C, et al. Acute myeloid/NK precursor cell leukemia with trisomy 4 and a novel point mutation in the extracellular domain of the G-CSF receptor in a patient with chronic idiopathic neutropenia. Ann Hematol 2004; 83:345-348.
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Chronic idiopathic neutropenia preceding polymyalgia rheumatica and acute myeloid leukemia
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Megalakaki A, Mitsouli C, Pontikoglou C, et al. Chronic idiopathic neutropenia preceding polymyalgia rheumatica and acute myeloid leukemia. Ann Hematol 2004; 83:791-792.
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Link DC, Kunter G, Kasai Y, et al. Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. Blood 2007; 9 May [Epub ahead of print] In this outstanding study mutational profiling of genes previously implicated in leukemogenesis was performed in SCN/AML patients using exon-based sequencing of whole genome amplified genomic DNA. No mutations of tyrosine kinase genes commonly involved in de-novo AML were detected. Instead, mutations in G-CSFR were common supporting the hypothesis that these mutations probably provide the 'activated tyrosine kinase signal' important for leukemogenesis in this disease state.
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Link DC, Kunter G, Kasai Y, et al. Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. Blood 2007; 9 May [Epub ahead of print] In this outstanding study mutational profiling of genes previously implicated in leukemogenesis was performed in SCN/AML patients using exon-based sequencing of whole genome amplified genomic DNA. No mutations of tyrosine kinase genes commonly involved in de-novo AML were detected. Instead, mutations in G-CSFR were common supporting the hypothesis that these mutations probably provide the 'activated tyrosine kinase signal' important for leukemogenesis in this disease state.
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0035001760
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Anemia of chronic disease is the more frequent type of anemia seen in patients with chronic idiopathic neutropenia of adults
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Papadaki HA, Eliopoulos DG, Valatas V, Eliopoulos GD. Anemia of chronic disease is the more frequent type of anemia seen in patients with chronic idiopathic neutropenia of adults. Ann Hematol 2001; 80:195-200.
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Ann Hematol
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Papadaki, H.A.1
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Eliopoulos, G.D.4
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23
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+ cells by the increased local levels of TNFα may account for anemia of patients with CIN and may also represent a new pathogenetic mechanism for anemia of chronic disease.
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+ cells by the increased local levels of TNFα may account for anemia of patients with CIN and may also represent a new pathogenetic mechanism for anemia of chronic disease.
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24
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Impaired megakaryopoiesis in patients with chronic idiopathic neutropenia is associated with increased transforming growth factor beta1 production in the bone marrow
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Psyllaki M, Damianaki A, Gemetzi C, et al. Impaired megakaryopoiesis in patients with chronic idiopathic neutropenia is associated with increased transforming growth factor beta1 production in the bone marrow. Br J Haematol 2006; 134:624-631.
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Psyllaki, M.1
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Gemetzi, C.3
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25
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0031771068
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Selective loss of peripheral blood CD45RO+ T lymphocytes correlates with increased levels of serum cytokines and endothelial cell-derived soluble cell adhesion molecules in patients with chronic idiopathic neutropenia of adults
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Papadaki HA, Eliopoulos GD. Selective loss of peripheral blood CD45RO+ T lymphocytes correlates with increased levels of serum cytokines and endothelial cell-derived soluble cell adhesion molecules in patients with chronic idiopathic neutropenia of adults. Ann Hematol 1998; 77:153-159.
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26
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Impaired granulocytopoiesis in patients with chronic idiopathic neutropenia is associated with increased apoptosis of bone marrow myeloid progenitor cells
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Papadaki HA, Eliopoulos AG, Kosteas T, et al. Impaired granulocytopoiesis in patients with chronic idiopathic neutropenia is associated with increased apoptosis of bone marrow myeloid progenitor cells. Blood 2003; 101:2591-2600.
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Papadaki, H.A.1
Eliopoulos, A.G.2
Kosteas, T.3
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27
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0033788354
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Morphologically defined myeloid cell compartments, lymphocyte subpopulations, and histological findings of bone marrow in patients with nonimmune chronic idiopathic neutropenia of adults
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Papadaki HA, Chatzivassili A, Stefanaki K, et al. Morphologically defined myeloid cell compartments, lymphocyte subpopulations, and histological findings of bone marrow in patients with nonimmune chronic idiopathic neutropenia of adults. Ann Hematol 2000; 79:563-570.
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Ann Hematol
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Papadaki, H.A.1
Chatzivassili, A.2
Stefanaki, K.3
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28
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Activated T-lymphocytes with myelosuppressive properties in patients with chronic idiopathic neutropenia
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Papadaki HA, Stamatopoulos K, Damianaki A, et al. Activated T-lymphocytes with myelosuppressive properties in patients with chronic idiopathic neutropenia. Br J Haematol 2005; 128:863-876.
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(2005)
Br J Haematol
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Papadaki, H.A.1
Stamatopoulos, K.2
Damianaki, A.3
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29
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Low frequency of myeloid progenitor cells in chronic idiopathic neutropenia of adults may be related to increased production of TGF-beta1 by bone marrow stromal cells
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Papadaki HA, Giouremou K, Eliopoulos GD. Low frequency of myeloid progenitor cells in chronic idiopathic neutropenia of adults may be related to increased production of TGF-beta1 by bone marrow stromal cells. Eur J Haematol 1999; 63:154-162.
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Papadaki, H.A.1
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Eliopoulos, G.D.3
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30
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0031787664
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Enhanced neutrophil extravasation may be a contributing factor in the determination of neutropenia in patients with chronic idiopathic neutropenia of adults
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Papadaki HA, Eliopoulos GD. Enhanced neutrophil extravasation may be a contributing factor in the determination of neutropenia in patients with chronic idiopathic neutropenia of adults. Eur J Haematol 1998; 61:272-277.
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(1998)
Eur J Haematol
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Papadaki, H.A.1
Eliopoulos, G.D.2
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Garwicz D, Palmblad J, Fadeel B. Normal levels of constitutive and death receptor-mediated apoptosis of peripheral blood neutrophils from patients with chronic idiopathic neutropenia. Clin Immunol 2007; 122:349-355. Increased peripheral blood neutrophil apoptosis has been proposed as pathogenetic mechanism in some neutropenia states. In this study, the authors demonstrated that the levels of neutrophil apoptosis is normal in patients with CIN supporting therefore the notion that the underlying defect in these patients probably lies in the bone marrow microenvironment.
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Garwicz D, Palmblad J, Fadeel B. Normal levels of constitutive and death receptor-mediated apoptosis of peripheral blood neutrophils from patients with chronic idiopathic neutropenia. Clin Immunol 2007; 122:349-355. Increased peripheral blood neutrophil apoptosis has been proposed as pathogenetic mechanism in some neutropenia states. In this study, the authors demonstrated that the levels of neutrophil apoptosis is normal in patients with CIN supporting therefore the notion that the underlying defect in these patients probably lies in the bone marrow microenvironment.
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T-cell receptor Vb repertoire analysis in chronic idiopathic neutropenia: Evidence for presence of prominent T-cell clones with pathogenetic significance
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Spanoudakis M, Koutala H, Gemetzi C, et al. T-cell receptor Vb repertoire analysis in chronic idiopathic neutropenia: evidence for presence of prominent T-cell clones with pathogenetic significance. Hematologica 2006; 91(S1):178.
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Koumaki V, Damianaki A, Ximeri M, et al. Pro-inflammatory bone marrow milieu in patients with chronic idiopathic neutropenia is associated with impaired local production of interleukin-10. Br J Haematol 2006; 135:570-573. In this study the authors provide evidence that not only increased levels of inflammatory cytokines in the bone marrow microenvironment but also decreased production of the anti-inflammatory cytokine IL-10 may account for the impaired granulopoiesis of patients with CIN.
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Koumaki V, Damianaki A, Ximeri M, et al. Pro-inflammatory bone marrow milieu in patients with chronic idiopathic neutropenia is associated with impaired local production of interleukin-10. Br J Haematol 2006; 135:570-573. In this study the authors provide evidence that not only increased levels of inflammatory cytokines in the bone marrow microenvironment but also decreased production of the anti-inflammatory cytokine IL-10 may account for the impaired granulopoiesis of patients with CIN.
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Increased levels of soluble flt-3 ligand in serum and long-term bone marrow culture supernatants in patients with chronic idiopathic neutropenia
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Papadaki HA, Damianaki A, Pontikoglou C, et al. Increased levels of soluble flt-3 ligand in serum and long-term bone marrow culture supernatants in patients with chronic idiopathic neutropenia. Br J Haematol 2006; 132:637-639.
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Br J Haematol
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Papadaki, H.A.1
Damianaki, A.2
Pontikoglou, C.3
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Chronic overexpression of membrane-bound flt3 ligand by T lymphocytes in severe aplastic anaemia
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Pfister O, Chklovskaia E, Jansen W, et al. Chronic overexpression of membrane-bound flt3 ligand by T lymphocytes in severe aplastic anaemia. Br J Haematol 2000; 109:211-220.
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Pfister, O.1
Chklovskaia, E.2
Jansen, W.3
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Plasma/serum levels of flt3 ligand are low in normal individuals and highly elevated in patients with Fanconi anemia and acquired aplastic anemia
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Lyman SD, Seaberg M, Hanna R, et al. Plasma/serum levels of flt3 ligand are low in normal individuals and highly elevated in patients with Fanconi anemia and acquired aplastic anemia. Blood 1995; 86:4091-4096.
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Horwitz MS, Duan Z, Korkmaz B, et al. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood 2007; 109:1817-1824. In this comprehensive review the authors unravel the possible biochemical and cellular events associated with neutrophil elastase gene mutations in cyclic and severe congenital neutropenia. The roles of AP3B1 and Gfi1 mutations are also analyzed.
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Horwitz MS, Duan Z, Korkmaz B, et al. Neutrophil elastase in cyclic and severe congenital neutropenia. Blood 2007; 109:1817-1824. In this comprehensive review the authors unravel the possible biochemical and cellular events associated with neutrophil elastase gene mutations in cyclic and severe congenital neutropenia. The roles of AP3B1 and Gfi1 mutations are also analyzed.
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Kollner I, Sodeik B, Schreek S, et al. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood 2006; 108:493-500. In this excellent study, the authors suggest that mutations in neutrophil elastase encoding gene in patients with severe congenital neutropenia and cyclic neutropenia result in cytoplasmic accumulation of nonfunctional protein associated with diminished protein secretory capacity and increased apoptosis of cells expressing the mutant protein.
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Kollner I, Sodeik B, Schreek S, et al. Mutations in neutrophil elastase causing congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood 2006; 108:493-500. In this excellent study, the authors suggest that mutations in neutrophil elastase encoding gene in patients with severe congenital neutropenia and cyclic neutropenia result in cytoplasmic accumulation of nonfunctional protein associated with diminished protein secretory capacity and increased apoptosis of cells expressing the mutant protein.
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Low levels of serum elastase are not associated with mutations in ELA-2 elastase encoding gene in chronic idiopathic neutropenia
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Papadaki HA, Horwitz M, Coulocheri SA, et al. Low levels of serum elastase are not associated with mutations in ELA-2 elastase encoding gene in chronic idiopathic neutropenia. Blood 2003; 101:2898-2899.
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(2003)
Blood
, vol.101
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Papadaki, H.A.1
Horwitz, M.2
Coulocheri, S.A.3
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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2
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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.
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(2003)
Nat Genet
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Person, R.E.1
Li, F.Q.2
Duan, Z.3
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33845274520
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Kostmann syndrome or infantile genetic agranulocytosis, part one: Celebrating 50 years of clinical and basic research on severe congenital neutropenia
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This is a comprehensive review of SCN
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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. This is a comprehensive review of SCN.
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(2006)
Acta Paediatr
, vol.95
, pp. 1526-1532
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Carlsson, G.1
Andersson, M.2
Pütsep, K.3
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Kostmann syndrome or infantile genetic agranulocytosis, part two: Understanding the underlying genetic defects in severe congenital neutropenia
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This is another comprehensive review of SCN
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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. This is another comprehensive review of SCN.
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(2007)
Acta Paediatr
, vol.96
, pp. 813-819
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Carlsson, G.1
Melin, M.2
Dahl, N.3
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Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2
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Jung J, Bohn G, Allroth A, et al. Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood 2006; 108:362-369.
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Blood
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Jung, J.1
Bohn, G.2
Allroth, A.3
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Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia
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Ancliff PJ, Blundell MP, Cory GO, et al. Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia. Blood 2006; 108:2182-2189.
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Blood
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Ancliff, P.J.1
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Bohn G, Allroth A, Brandes G, et al. A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat Med 2007; 13:38-45. The paper describes a new form and cause of SCN.
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Bohn G, Allroth A, Brandes G, et al. A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat Med 2007; 13:38-45. The paper describes a new form and cause of SCN.
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Klein C, Grudzien M, Appaswamy G, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007; 39:86-92. This is the first description of the cause and mechanism for autosomal recessive SCN, i.e. Kostmann's disease.
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Klein C, Grudzien M, Appaswamy G, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet 2007; 39:86-92. This is the first description of the cause and mechanism for autosomal recessive SCN, i.e. Kostmann's disease.
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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
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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.
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Kostmann syndrome: Severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells
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Carlsson G, Aprikyan AA, Tehranchi R, et al. Kostmann syndrome: severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells. Blood 2004; 103:3355-3361.
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Carlsson, G.1
Aprikyan, A.A.2
Tehranchi, R.3
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G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms
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Donini M, Fontana S, Savoldi G, et al. G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms. Blood 2007; 109:4716-4723.
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Donini, M.1
Fontana, S.2
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A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia
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Sera Y, Kawaguchi H, Nakamura K, et al. A comparison of the defective granulopoiesis in childhood cyclic neutropenia and in severe congenital neutropenia. Haematologica 2005; 90:1032-1041.
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Skokowa J, Cario G, Uenalan M, et al. LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia. Nat Med 2006; 12:1191-1197. This paper describes new findings in the pathophysiology of SCN, demonstrating a common mechanism of maturation arrest of myeloid progenitors and lack of certain granula proteins.
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Skokowa J, Cario G, Uenalan M, et al. LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia. Nat Med 2006; 12:1191-1197. This paper describes new findings in the pathophysiology of SCN, demonstrating a common mechanism of maturation arrest of myeloid progenitors and lack of certain granula proteins.
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The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy
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Rosenberg PS, Alter BP, Bolyard AA, et al. 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.
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Rosenberg, P.S.1
Alter, B.P.2
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Germeshausen M, Ballmaier M, Welte K. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey. Blood 2007; 109:93-99. The authors present compelling data on the frequency and time course of G-CSF receptor mutations in congenital neutropenia and their role in leukemogenesis.
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Germeshausen M, Ballmaier M, Welte K. Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey. Blood 2007; 109:93-99. The authors present compelling data on the frequency and time course of G-CSF receptor mutations in congenital neutropenia and their role in leukemogenesis.
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