Severe Congenital Neutropenia

Kostmann, 1956, Infantile genetic agranulocytosis, Acta Pediatr Scand, 45, 1

Kostmann, 1975, Infantile genetic agranulocytosis, Acta Pediatr Scand, 64, 362, 10.1111/j.1651-2227.1975.tb03847.x

Rappeport, 1980, Correction of infantile granulocytosis (Kostmann syndrome) by allogeneic bone marrow transplantation, Am J Med, 68, 605, 10.1016/0002-9343(80)90312-5

Souza, 1986, Recombinant human granulocyte colony-stimulating factor, Science, 232, 61, 10.1126/science.2420009

Bonilla, 1989, Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis, N Engl J Med, 320, 1574, 10.1056/NEJM198906153202402

Bonilla, 1994, Long-term safety of treatment with recombinant human granulocyte colony-stimulating factor (r-metHuG-CSF) in patients with severe congenital neutropenias, Br J Hematol, 88, 723, 10.1111/j.1365-2141.1994.tb05110.x

Freedman, 1997, Safety of long-term administration of granulocyte colony-stimulating factor for severe chronic neutropenia, Curr Opin Hematol, 4, 217, 10.1097/00062752-199704030-00011

Welte, 1996, Pathophysiology and treatment of severe chronic neutropenia, Ann Hematol, 72, 158, 10.1007/s002770050156

Welte, 1997, Severe chronic neutropenia, Semin Hematol, 34, 267

Zeidler, 2000, Management of Kostmann syndrome in the G-CSF era, Br J Haematol, 109, 490, 10.1046/j.1365-2141.2000.02064.x

Zeidler, 2000, Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation, Blood, 95, 1195

Mempel, 1991, Increased serum levels of granulocyte colony-stimulating factor in patients with severe congenital neutropenia, Blood, 77, 1919, 10.1182/blood.V77.9.1919.1919

Kyas, 1992, Expression of receptors for granulocyte-colony stimulating factor on neutrtophilsfrom patients with severe congenital neutropenia and cyclic neutropenia, Blood, 79, 1144, 10.1182/blood.V79.5.1144.1144

Horwitz, 1999, Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoesis, Nat Genet, 23, 433, 10.1038/70544

Ancliff, 2002, Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia, Blood, 100, 707, 10.1182/blood-2002-01-0060

Dale, 2001, Clinical implications of mutations of neutrophil elastase in congenital and cyclic neutropenia, J Pediatr Hematol Oncol, 23, 208, 10.1097/00043426-200105000-00005

Donadieu, 2005, Analysis of risk factors for myelodysplasia/leukemia and infectious death among patients with congenital neutropenia, Haematologica, 90, 45

Dale, 2000, Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia, Blood, 96, 2317, 10.1182/blood.V96.7.2317

Massullo, 2005, Aberrant subcellular targeting of the G185R neutrophil elastase mutant associated with severe congenital neutropenia induces premature apoptosis of differentiating promyelocytes, Blood, 105, 3397, 10.1182/blood-2004-07-2618

Germeshausen, 2001, Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia, Br J Haematol, 115, 1, 10.1046/j.1365-2141.2001.03069.x

Koellner, 2006, Mutations in neutrophil elastase causino congenital neutropenia lead to cytoplasmic protein accumulation and induction of the unfolded protein response, Blood, 10.1182/blood-2005-11-4689

Skokowa, 2005, LEF-1 transcription factor regulates proliferation and differentiation of myeloid progenitors in healthy individuals and in patients with severe congenital neutropenia (CN), Blood, 106, 390a, 10.1182/blood.V106.11.387.387

Bernard, 1998, Mutations of the granulocyte-colony stimulating factor receptor in patients with severe congenital neutropenia are not required for transformation to acute myeloid leukaemia and may be a bystander phenomenon, Br J Haematol, 101, 141, 10.1046/j.1365-2141.1998.00652.x

Cassinat, 2004, Screening for G-CSF receptor mutations in patients with secondary myeloid or lymphoid transformation of severe congenital neutropenia. A report from the French Neutropenia Register, Leukemia, 18, 1553, 10.1038/sj.leu.2403431

Dong, 1995, Mutations in the gene for the granulocyte-colony stimulating factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia, N Engl J Med, 333, 487, 10.1056/NEJM199508243330804

Germeshausen, 2005, An acquired G-CSF receptor mutation results in increased proliferation of CMML cells from a patient with severe congenital neutropenia, Leukemia, 19, 611, 10.1038/sj.leu.2403663

Papadaki, 2004, 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, 83, 345, 10.1007/s00277-004-0862-y

Tidow, 1997, Clinical relevance of point mutations in the cytoplasmatic domain of the granulocyte-colony stimulating factor gene in patients with severe congenital neutropenia, Blood, 88, 2369, 10.1182/blood.V89.7.2369

Tschan, 2001, Time course of increasing numbers of mutations in the granulocyte colony-stimulating factor receptor gene in a patient with congenital neutropenia who developed leukemia, Blood, 97, 1882, 10.1182/blood.V97.6.1882

Jeha, 2000, Spontaneous remission of granulocyte colony-stimulating factor–associated leukemia in a child with severe congenital neutropenia, Blood, 96, 3647, 10.1182/blood.V96.10.3647

Bux, 1998, Diagnosis and clinical course of autoimmune neutropenia in infancy, Blood, 91, 181, 10.1182/blood.V91.1.181

Dale, 1993, A randomized controlled phase III trial of recombinant human granulocyte colony-stimulating factor (Filgrastim) for treatment of severe chronic neutropenia, Blood, 81, 2496, 10.1182/blood.V81.10.2496.2496

Welte, 1990, Differential effects of granulocyte-macrophage colony-stimulating factor and granulocyte colony-stimulating factor in children with severe congenital neutropenia, Blood, 75, 1056, 10.1182/blood.V75.5.1056.1056

Zeidler, 1998, Beneficial effects of stem cell factor (SCF) in children with severe congenital neutropenias refractory to G-CSF, Blood, 92, 380a

Gilman, 1971, Congenital agranulocytosis, Blood, 36, 576, 10.1182/blood.V36.5.576.576

Rosen, 1979, Congenital agranulocytosis terminating in acute myelomonocytic leukemia, J Pediatr, 94, 406, 10.1016/S0022-3476(79)80581-8

Rosenberg, 2006, The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy, Blood, 10.1182/blood-2005-11-4370

Yakisan, 1997, High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann’s syndrome), J Pediatr, 131, 592, 10.1016/S0022-3476(97)70068-4