Publications

Mon, 02/18/2008 - 16:55 - DSCF4495Flickr

Dear patients, please find below publications on neutropenia. You can also select topic-related manuscripts, by clicking on the following selection of key words:

Autoimmune Neutropenia    Basic Research    Congenital Neutropenia    Congenital Neutropenia - ELANE+    Cyclic Neutropenia    Gycogen Storage Disease Type 1b    Kostmann's Disease - HAX1    Leukemia    Pregnancy    Shwachman-Diamond Syndrome    Therapy

Manuscripts

  • Koch C, Samareh B, Morishima T, Mir P, Kanz L, Zeidler C, Skokowa J, Welte K. GM-CSF treatment is not effective in congenital neutropenia patients due to its inability to activate NAMPT signaling. Ann Hematol. 2017 Mar;96(3):345-353. doi: 10.1007/s00277-016-2894-5. Epub 2016 Dec 14. PubMed PMID: 27966038.
  • Klimiankou M, Mellor-Heineke S, Zeidler C, Welte K, Skokowa J. Role of CSF3R mutations in the pathomechanism of congenital neutropenia and secondary acute myeloid leukemia. Ann N Y Acad Sci. 2016 Apr;1370(1):119-25. doi: 10.1111/nyas.13097. PubMed PMID: 27270496. Klimiankou M, Mellor-Heineke S, Klimenkova O, Reinel E, Uenalan M, Kandabarau S, Skokowa J, Welte K, Zeidler C. Two cases of cyclic neutropenia with acquired CSF3R mutations, with 1 developing AML. Blood. 2016 May 26;127(21):2638-41. doi: 10.1182/blood-2015-12-685784. Epub 2016 Mar 30. PubMed PMID: 27030388.
  • Touw IP. Game of clones: the genomic evolution of severe congenital neutropenia. Hematology Am Soc Hematol Educ Program. 2015;2015:1-7. doi: 10.1182/asheducation-2015.1.1. PubMed PMID: 26637693.
  • Zeidler C, Grote UA, Nickel A, Brand B, Carlsson G, Cortesão E, Dufour C, Duhem C, Notheis G, Papadaki HA, Tamary H, Tjønnfjord GE, Tucci F, Van Droogenbroeck J, Vermylen C, Voglova J, Xicoy B, Welte K. Outcome and management of pregnancies in severe chronic neutropenia patients by the European Branch of the Severe Chronic Neutropenia International Registry. Haematologica. 2014 Aug;99(8):1395-402. doi: 10.3324/haematol.2013.099101. Epub 2014 Jul 4. PubMed PMID: 24997149; PubMed Central PMCID: PMC4116840.
  • Arikoglu T, Kuyucu N, Germeshausen M, Kuyucu S. A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome. Eur J Haematol. 2015 Jan;94(1):79-82. doi: 10.1111/ejh.12349. Epub 2014 May 13. PubMed PMID: 24750412.
  • Myers KC, Bolyard AA, Otto B, Wong TE, Jones AT, Harris RE, Davies SM, Dale DC, Shimamura A. Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. J Pediatr. 2014 Apr;164(4):866-70. doi: 10.1016/j.jpeds.2013.11.039. Epub 2013 Dec 31. PubMed PMID: 24388329; PubMed Central PMCID: PMC4077327.
  • Zeidler C. [Primary and secondary neutropenia]. Z Rheumatol. 2013 Sep;72(7):663-8. doi: 10.1007/s00393-013-1163-4. German. PubMed PMID: 23949279. Carlsson G, Winiarski J, Ljungman P, Ringdén O, Mattsson J, Nordenskjöld M, Touw I, Henter JI, Palmblad J, Fadeel B, Hägglund H. Hematopoietic stem cell transplantation in severe congenital neutropenia. Pediatr Blood Cancer. 2011 Mar;56(3):444-51. doi: 10.1002/pbc.22836. PubMed PMID: 21072829.
  • Dale DC, Welte K. Cyclic and chronic neutropenia. Cancer Treat Res. 2011;157:97-108. doi: 10.1007/978-1-4419-7073-2_6. Review. PubMed PMID: 21052952.
  • Boztug K, Ding XQ, Hartmann H, Ziesenitz L, Schäffer AA, Diestelhorst J,Pfeifer D, Appaswamy G, Kehbel S, Simon T, Al Jefri A, Lanfermann H, Klein C. HAX1 mutations causing severe congenital neutropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI. Am J Med Genet A. 2010 Dec;152A(12):3157-63. doi: 10.1002/ajmg.a.33748. PubMed PMID: 21108402; PubMed Central PMCID: PMC3164786.
  • Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schäffer AA, Rathinam C, Botzug 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). Nat Genet. 39(1):86-92
  • Bohn G, Allroth A, Brandes G, Thiel J, Glocker E, Schäffer AA, Rathinam C, Taub N, Teis D, Zeidler C, Dewey RA, Geffers R, Buer J, Huber LA, Welte K, Grimbacher B, Klein C (2007) A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat Med. 13(1):38-45
  • Sauer M, Zeidler C, Meissner B, Rehe K, Hanke A, Welte K, Lohse P, Sykora KW (2007) Bone Marrow Transplant. [Epub ahead of print] Skokowa J, Germeshausen M, Zeidler C, Welte K (2007) Severe congenital neutropenia: inheritance and pathophysiology. Curr Opin Hematol. 14(1):22-8.
  • Review Germeshausen M, Ballmaier M, Welte K (2007) Incidence of CSF3R mutations in severe congenital neutropenia and relevance for leukemogenesis: Results of a long-term survey. Blood 1;109(1):93-99
  • Köllner I, Sodeik B, Schreek S, Heyn H, von Neuhoff N, Germeshausen M, Zeidler C, Kruger M, Schlegelberger B, Welte K, Beger C (2006) Mutations in neutrophil elastase causing congenital neutropenia to lead to cytoplasmic protein accumulation and induction of the unfolded protein response. Blood 108(2):493-500
  • Skokowa J, Cario G, Uenalan M, Schambach A, Germeshausen M, Battmer K, Zeidler C, Lehmann U, Eder M, Baum C, Grosschedl R, Stanulla M, Scherr M, Welte K (2006) LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia. Nat Med. 12(10):1191-1197
  • Hochberg JC, Miron PM, Hay BN, Woda BA, Wang SA, Richert-Przygonska M, Aprikyan AA, Newburger PE (2006) Mosaic tetraploidy and transient GFI1 mutation in a patient with severe chronic neutropenia. Pediatr Blood Cancer. Nov 9; [Epub ahead of print]
  • Alapi K, Erd s M, Kovacs G, Marodi L (2006) Recurrent CXCR4 sequence variation in a girl with WHIM syndrome. Eur J Haematol. 78(1):86-88
  • Jung J, Bohn G, Allroth A, Boztug K, Brandes G, Sandrock I, Schaffer AA, Rathinam C, Kollner I, Beger C, Schilke R, Welte K, Grimbacher B, Klein C (2006) Identification of a homozygous deletion in the AP3B1 gene causing Hermansky-Pudlak syndrome, type 2. Blood 108(1):362-9
  • James RM, Kinsey SE (2006) The investigation and management of chronic neutropenia in children. Arch Dis Child. 91(10):852-8.
  • Review Welte K, Zeidler C, Dale DC (2006) Severe congenital neutropenia. Semin Hematol. 43(3):189-95.
  • Review Carlsson G, Wahlin YB, Johansson A, Olsson A, Eriksson T, Claesson R, Hanstrom L, Henter JI (2006) Periodontal disease in patients from the original Kostmann family with severe congenital neutropenia. J Periodontol. 77(4):744-51
  • Rosenberg PS, Alter BP, Bolyard AA, Bonilla MA, Boxer LA, Cham B, Fier C, Freedman M, Kannourakis G, Kinsey S, Schwinzer B, Zeidler C, Welte K, Dale DC; Severe Chronic Neutropenia International Registry (2006) The incidence of leukemia and mortality from sepsis in patients with severe congenital neutropenia receiving long-term G-CSF therapy. Blood. 107(12):4628-35
  • Donadieu J, Michel G, Merlin E, Bordigoni P, Monteux B, Beaupain B, Leverger G, Laporte JP, Hermine O, Buzyn A, Bertrand Y, Casanova JL, Leblanc T, Gluckman E, Fischer A, Stephan JL (2005) Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry. Bone Marrow Transplant. 36(9):787-92
  • Donadieu J, Leblanc T, Bader Meunier B, Barkaoui M, Fenneteau O, Bertrand Y, Maier-Redelsperger M, Micheau M, Stephan JL, Phillipe N, Bordigoni P, Babin-Boilletot A, Bensaid P, Manel AM, Vilmer E, Thuret I, Blanche S, Gluckman E, Fischer A, Mechinaud F, Joly B, Lamy T, Hermine O, Cassinat B, Bellanne-Chantelot C, Chomienne C (2005) French Severe Chronic Neutropenia Study Group. 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(1):45-53
  • Germeshausen M, Schulze H, Kratz C, Wilkens L, Repp R, Shannon K, Welte K, Ballmaier M (2005) An acquired G-CSF receptor mutation results in increased proliferation of CMML cells from a patient with severe congenital neutropenia. Leukemia. 19(4):611-7
  • Ferry C, Ouachee M, Leblanc T, Michel G, Notz-Carrere A, Tabrizi R, Flood T, Lutz P, Fischer A, Gluckman E, Donadieu J (2005) Hematopoietic stem cell transplantation in severe congenital neutropenia: experience of the French SCN register. Bone Marrow Transplant. 35(1):45-50
  • Cotter M, Gulmann C, Jeffers M, Smith OP (2004) Increased bone marrow angiogenesis in children with severe chronic neutropenia treated with granulocyte colony-stimulating factor. J Pediatr Hematol Oncol. 26(8):504-6
  • Zeidler C, Schwinzer B, Welte K. (2004) Congenital neutropenias. Rev Clin Exp Hematol. 7(1):72-83
  • Review Carlsson G, Aprikyan AG, Tehranchi R, Dale DC, Porwit A, Hellström-Lindberg E, Palmblad J, Henter J-I, Fadeel B (2004) Kostmann syndrome: severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome с, and excessive apoptosis of myeloid progenitor cells. Blood 103:3355-3361
  • Carlsson G, Åhlin A, Dahllöf G, Elinder G, Henter J-I, Palmblad J (2004) Efficacy and safety of two different rG-CSF preparations in the treatment of patients with severe chronic neutropenia. Br J Haematology 126:127-132
  • Papadaki HA, Eliopoulos GD (2003) The role of apoptosis in the pathophysiology of chronic neutropenias associated with bone marrow failure. Cell Cycle. 2(5):447-51
  • Review Stein SM, Dale DC (2003) Molecular basis and therapy of disorders associated with chronic neutropenia. Curr Allergy Asthma Rep. 3(5):385-8
  • Review Dale DC, Cottle TE, Fier CJ, Bolyard AA, Bonilla MA, Boxer LA, Cham B, Freedman MH, Kannourakis G, Kinsey SE, Davis R, Scarlata D, Schwinzer B, Zeidler C, Welte K (2003) Severe chronic neutropenia: treatment and follow-up of patients in the Severe Chronic Neutropenia International Registry. Am J Hematol. 72(2):82-93.
  • Review Freedman MH, Alter BP. Malignant myeloid transformation in congenital forms of neutropenia. Isr Med Assoc J. 4(11):1011-4
  • Zeidler C, Welte K (2002) Kostmann Syndrome and severe congenital neutropenia. Sem Hematol. 39(2):82-88
  • Boxer L, Dale DC (2002) Neutropenia: Causes and consequences. Sem Hematol. 39(2):75-81
  • Dale DC, Bolyard AA, Aprikyan A (2002) Cyclic neutropenia. Sem Hematol. 39(2):89-94
  • Smith OP (2002) Shwachman-Diamond syndrome. Sem Hematol. 39(2):95-102
  • Kannourakis G (2002) Glycogen storage disease. Sem Hematol. 39(2):103-106
  • Cham B, Bonilla MA, Winkelstein J (2002) Neutropenia associated with primary immunodeficiency syndromes. Sem Hematol. 39(2):107-112
  • Palmblad JEW, von dem Borne AEGKr (2002) Idiopathic, immune, infectious, and idiosyncratic neutropenias. Sem Hematol. 39(2):113-120
  • Starkebaum G (2002) Chronic neutropenia associated with autoimmune disease. Sem Hematol. 39(2):121-127
  • Freedman MH, Alter BP (2002) Risk of myelodysplastic syndrome and acute myeloid leukemia in congenital neutropenias. Sem Hematol. 39(2):128-133
  • Cottle TE, Fier CJ, Donadieu J, Kinsey SE (2002) Risk and benefit of treatment of severe chronic neutropenia with granulocyte colony-stimulating factor. Sem Hematol. 39(2):134-140
  • Pütsep K, Carlsson G, Boman HG, Andersson M (2002) Deficiency of antibacterial peptides in patients with Morbus Kostmann: an observation study. Lancet 360:1144-1149
  • Gavrikova N, Zeidler C, Stanulla M, Germeshausen M, Schwinzer B, Welte K (2001) TNF and lymphotoxin-& polymorphisms in patients with severe chronic neutropenia. Int J Hematol. 74:477-478
  • Schiller M, Bohm M, Zeidler C, Germeshausen M, Welte K, Luger TA, Bonsmann G (2001) Cyclic neutropenia. Detection of a mutation in the gene for neutrophil elastase (ELA2). Hautarzt 52(9):790-6
  • Germeshausen M, Schulze H, Ballmaier M, Zeidler C, Welte K (2001) Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause the phenotype of congenital neutropenia. Br J Haematol. 115(1):222-4
  • Tschan CA, Pilz C, Zeidler C, Welte K, Germeshausen M (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 97:1882-4
  • Carlsson G, Fasth A (2001) Infantile genetic agranulocytosis, Morbus Kostmann: presentation of six cases from the original “Kostmann family” and a review. Acta Paediatr 90:757-764
  • Dale DC, Liles WC, Garwicz D, Aprikyan AG. Clinical implications of mutations of neutrophil elastase in congenital and cyclic neutropenia. Journal of Pediatric Hematology and Oncology (in press)
  • Zeidler C, Schwinzer B, Welte K (2000) Severe congenital neutropenia: trends in diagnosis and therapy. Klin Pädiatr. 212(4):145-52
  • Freedman MH, Bonilla M, Fier C, Bolyard AA, Scarlata D, Boxer LA, Welte K, Brown S, Cham B, Kannourakis G, Kinsey SE, Mori PG, Cottle T, Dale DC (2000) Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. Blood 96:429-436
  • Corbacioglu S, Bux J, König A, Gabrilove JL, Welte K, Bussel JB (2000) Serum granulocyte colony-stimulating factor levels are not increased in patients with autoimmune neutropenia of infancy. J Pediatr 137:96-99
  • Kasper B, Grothues D, Welte K (2000) Differential expression and regulation of GTPases (RhoA and Rac2) and GDI’s (LyGDI and RhoGDI) in neutrophils from patients with severe congenital neutropenia. Blood 95:2947-2953
  • Stanulla M, Kasper B, Schrappe M, Viehmann S, Harbott J, Ludwig WD, Welte K (2000) Granulocyte colony-stimulating factor receptor expression and 11q23/MLL genotype in childhood acute lymphoblastic leukemia developing during the first 18 months of life. Leukemia (letter):337-338
  • Zeidler C, Boxer L, Dale DC, Freedman MH, Kinsey SE, Welte K (2000) Management of Kostmann syndrome in the G-CSF era. Br J Haematol. 109:490-5
  • Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, Boxer LA, Kannourakis G, Zeidler C, Welte K, Benson KF, Horwitz M (2000) Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 96(7):2317-22
  • Zeidler C, Welte K, Barak Y, Barriga F, Bolyard AA, Boxer L, Cornu G, Cowan MJ, Dale DC, Flood T, Freedman M, Gadner H, Mandel H, O'Reilly RJ, Ramenghi U, Reiter A, Skinner R, Vermylen C, Levine JE (2000) Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation. Blood 95:1195-8
  • Freedman MH, Bonilla MA, Fier C, Bolyard AA, Scarlata D, Boxer LA, Brown S, Cham B, Kannourakis G, Kinsey SE, Mori PG, Cottle T, Welte K, Dale DC (2000) Myelodysplasia syndrome and acute myeloid leukemia in patients with congenital neutropenia receiving G-CSF therapy. Blood 96:429-436
  • Aprikyan AA, Liles WC, Park JR, Mechthild J, Chi EY, Dale DC (2000) Myelokathexis - a congenital disorder of severe neutropenia characterized by accelerated apoptosis and defective expression of bcl-x in neutrophil precursors. Blood 95:320-327
  • Horwitz M, Benson KF, Person RE, Aprikyan AG, Dale DC (1999) Mutations in ELA2, Encoding Neutrophil Elastase, Define a 21-day Biological Clock in Cyclic Neutropenia. Nat Genet 23:433-436.
  • Baranova K, Stanulla M, Zeidler C, Welte K (1999) Alkaline phosphatase activity in neutrophils from patients with severe congenital neutropenia (Kostmann's syndrome). Int J Hematol. 1999 Dec;70(4):236-40
  • Bux J, Hofmann C, Welte K (1999) Serum G-CSF levels are not increased in patients with antibody-induced neutropenia unless they are suffering from infectious diseases. Br J Haematol 105:616-617
  • Kasper B, Tidow N, Welte, K (1999) Association of src-kinase Lyn and non-src-kinase Syk with the granulocyte colony-stimulating factor receptor (G-CSFR) is not abrogated in neutrophils from severe congenital neutropenia patients with point mutations in the G-CSFR mRNA. Internat J Hematol 70:241-247
  • Tidow N, Kasper B, Welte K (1999) SH2-containing protein tyrosine phospha­ta­ses SHP-1 and SHP-2 are dramatically increased at the protein level in neutrophils from patients with severe congenital neutropenia (Kostmann's syndrome). Exp Hematol 27:1038-1045
  • Haurie C, Dale DC, Mackey MC (1999) Occurrence of periodic oscillations in the differential blood counts of congenital idiopathic and cyclical neutropenic patients before and during treatment with G-CSF. Exper Hematol 27:40-1-409.
  • Haurie C, Dale DC, Mackey MC. (1998) Cyclical neutropenia and other periodic hematological disorders: A review of mechanisms and mathematical models. Blood 92:2629-2640
  • Tidow N, Kasper B, Welte K (1998) Clinical implications of G-CSF receptor mutations. Critical Reviews in Oncology/Hematology 28:1-6
  • Dale D, Fier C, Welte K (1998) Use of Filgrastim (r-metHuG-CSF) in Severe Chronic Neutropenia (Eds: G. Morstyn, T.M. Dexter, M.A. Foote 121-147, Marcel Dekker, Inc. Bux J, Behrens G, Jäeger G, Welte K (1998) Diagnosis and Clinical Course of Autoimmune Neutropenia in Infancy: Analysis of 240 Cases. Blood 91:181-186
  • Führer M, Burdach S, Ebell W, Gadner H, Haas R, Harbott J, Janka-Schaub G, Klingebiel T, Kremens B, Niemeyer C, Rampf U, Reiter A, Ritter J, Schulz A, Walther U, Zeidler C, Bender-Götze C (1998) Relapse and clonal disease in children with aplastic anemia (AA) after immunosuppressive therapy (IST): the SAA 94 experience. German/Austrian Pediatric Aplastic Anemia Working Group. Klin Pädiatr. 210(4):173-9
  • Rusthoven JJ, DeVries EGE, Dale DC, Piccart M, Glaspy J (1997) Consensus on the use of neutrophil-stimulating hematopoietic growth factors in clinical practice: An international viewpoint. Intl J Antimicrob 8:263-275 Freedman MH (1997) Safety of long-term administration of granulocyte colony-stimulating factor for severe chronic neutropenia. Current Opinion in Hematology 4: 217-224
  • Kasper B, Thole HH, Patterson SD, Welte K (1997) Cytosolic proteins from neutrophilic granulocytes: A comparison between patients with severe chronic neutropenia and healthy donors. Electrophoresis 18:142-149
  • Dong F, Dale DC, Bonilla MA, Freedman M, Fasth A, Neijens HJ, Palmblad J, Briars GL, Carlsson G, Veeerman AJP, Welte K, Löwenberg B and Touw IP (1997) Mutations in the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia. Leukemia 11:120-125
  • Tidow N, Pilz C, Kasper B, Welte K (1997) Frequency of Point Mutations in the Gene for the G-CSF Receptor in Patients with Chronic Neutropenia Under­going G-CSF Therapy. 1997 Hematopoietic Stem Cells 15:113-120
  • Welte K, Riehm H (1997) Granulocyte Colony-Stimulating Factor in Children with Acute Lymphoblastic Leukemia. N Engl J Med: 1320 (letter)
  • Kasper B, Herbst A, Pilz C, Germeshausen M, Tidow N, Hadam MR, Welte K (1997) Severe congenital neutropenia patients with point mutations in the granulocyte colony-stimulating factor (G-CSF) receptor mRNA express a normal G-CSF receptor protein. Blood 90:2839-2853
  • Tidow N, Welte K (1997) Advances in understanding postreceptor signaling in response to granulocyte colony-stimulating factor. Current Opinion in Hematology 4:171-175
  • Spiekermann K, Roesler J, Emmendoerffer A, Elsner J, Welte K (1997) Functional features of neutrophils induced by G-CSF and GM-CSF treatment: differential effects and clinical implications. Leukemia 11:466-478
  • Welte K, Boxer L (1997) Severe chronic neutropenia: Pathophysiology and Therapy. Sem Hematol 34:267-278
  • Tidow N, Pilz C, Teichmann B, Müller-Brechlin A, Germeshausen M, Kasper B, Rauprich P, Sykora KW, Welte K (1997) Clinical relevance of point muta­tions in the cytoplasmic domain of the granulocyte colony-stimulating factor (G-CSF) receptor gene in patients with severe congenital neutropenia. Blood 89:2369-2375
  • Yakisan E, Schirg E, Zeidler C, Bishop NJ, Reiter A, Hirt A, Riehm H, Welte K (1997) High incidence of significant bone loss in patients with severe congenital neutropenia (Kostmann's syndrome). J Pediatr 131,592-597
  • Sievers EL, Dale DC (1996) Non-malignant neutropenia. Blood Reviews 10:95-100
  • Palmer SE, Stephens K, Dale DC (1996) Genetics, phenotype, and natural history of autosomal dominant cyclic hematopoiesis. Am J Med Gen 66:413-422
  • Welte K, Dale D for the SCN-International Registry. (1996) Pathophysiology and treatment of severe chronic neutropenia. Ann Hematol 72:158-165
  • Welte K, Reiter A, Mempel K, Pfetsch M, Schwab G, Schrappe M, Riehm H (1996) A randomised phase III study of the efficacy of granulocyte colony-stimulating factor in children with high-risk acute lymphoblastic leukemia. Blood 87:3143-3150
  • Welte K, Gabrilove J, Bronchud MH, Platzer E, Morstyn G (1996) Filgrastim (r-metHuG-CSF): the first ten years. Blood 88:1907-1929
  • Kalra R, Dale DC, Freedman M, Bonilla MA, Weinblatt M, Ganser A, Bowman P, Abish S, Priest J, Oseas RS, Olson, K, Paderanga D, Shannon K. (1995) Monosomy 7 and activating RAS mutations accompany malignant transformation in patients with congenital neutropenia. Blood 86:4579-4586
  • Dale DC (1995) Hematopoietic growth factors for the treatment of severe chronic neutropenia. Concise Review. Stem Cells 13:94-100
  • Bonilla M, Dale D, Zeidler C, Last L, Reiter A, Ruggeiro M, Davis M, Koci B, Hammond W, Gillio A, Welte K (1994) Long-term safety of treatment with recombinant human granulocyte colony-stimulating factor (r-metHuG-CSF) in patients with severe congential neutropenias. Br J Hematol. 88:723-730
  • Zeidler C, Reiter A, Yakisan E, Koci B, Riehm H, Welte K (1993) Langzeitbehand-lung mit rekombinantem humanen Granulozyten-Kolonien stimulierendem Faktor bei Patienten mit schwerer kongenitaler Neutropenie. Klin. Pädiatr. 205(4): 264-271
  • Zeidler C, Kanz L, Hurkuck F, Rittmann KL, Wildfang I, Kadoya T, Mikayama T, Souza L, Welte K (1992) In vivo effects of interleukin-6 on thrombopoiesis in healthy and irradiated primates. Blood 80(11):2740-5
  • Elsner J, Roesler, J, Emmendorffer A, Zeidler C, Lohmann-Matthes ML, Welte K (1992) Altered function and surface marker expression of neutrophils induced by rhG-CSF treatment in severe congenital neutropenia. Eur J Haematol. 48(1):10-9
  • Schroten H, Wendel U, Burdach S, Roesler J, Breidenbach T, Schweitzer S, Zeidler C, Welte K (1991) Colony-stimulating factors for neutropenia in glycogen storage disease Ib. Lancet. 23;337(8743):736-7
  • Schroten H, Roesler J, Breidenbach T, Wendel U, Elsner J, Schweitzer S, Zeidler C, Burdach S, Lohmann-Matthes ML, Wahn V, Welte K (1991) G-CSF and GM-CSF for treatment of neutropenia in glycogen storage disease type 1b. J Pediatr 119: 748-754
  • Mempel K, Pietsch T, Menzel T, Zeidler C, Welte K (1991) Increased serum levels of granulocyte colony-stimulating factor in patients with severe congenital neutropenia. Blood 77: 1919-1922
  • Pietsch, T, Buehrer C, Mempel K, Menzel T, Steffens U, Schrader C, Santos F, Zeidler C, Welte K (1991) Blood mononuclear cells from patients with severe congenital neutropenia are capable of producing granulocyte colony-stimulating factor. Blood 77(6):1234-7
  • Roesler J, Emmendorffer A, Elsner J, Zeidler C, Lohmann-Matthes M, Welte K (1991) In vitro functions of neutrophils induced by treatment with rh G-CSF in severe congenital neutropenia. Eur J Haematol. 46(2):112-8
  • Welte K, Zeidler C, Reiter A, Odenwald E, Souza L, Riehm H (1990) Differential effects of granulocyte-macrophage colony-stimulating factor and granulocyte colony-stimulating factor in children with severe congenital neutropenia. Blood 75:1056-1063

Book contributions

Manuscripts

Published abstracta of lectures and posters

Accelerated telomere loss in patients with severe congenital neutropenia (SCN)

Melk A, Zeidler C, Welte K, Germeshausen M (2000). Blood 96(11): 609a (abstract #2615)
Basic Research

Administration of r-met Hu G-CSF during pregnancy in patients with severe chronic neutropenia (SCN)

Boxer L, Dale DC, Bonilla MA, Cham B, Freedman M, Kannourakis G, Brown S, Fier C, Welte K. (1995). Blood 86:508a
Pregnancy

Administration of r-metHuG-CSF during pregnancy in patients with severe chronic neutropenia (SCN)

Boxer LA, Dale DC, Bonilla MA, Bolyard AA, Cham B, Freedman M, Kannourakis G, Schwinzer B, Fier C, Brown S, Welte, K (1999). Blood 94 (10): 173b
Pregnancy

Algorithm for the management of Kostmann’s neutropenia based on data from the Severe Chronic Neutropenia International Registry

Kinsey SE, Bolyard AA, Bonilla MA, Boxer L, Brown S, Dale DC, Cham B, Fier C, Freedman M, Kannourakis G, Mori P, Welte K, Zeidler C (1999). Blood 94(10):174b (abstract #3955)
Congenital Neutropenia - ELANE

Altered function and surface marker expression of neutrophils induced by rhG-CSF treatment in severe congenital neutropenia

Emmendorffer A, Zeidler C, Welte K, Roesler J (1989). In: 7th International Congress of Immunology: 224 (abstract #40-6)
Basic Research

Anticipation in autosomal dominant cyclic hematopoiesis

Palmer SE, Stephens K, Dale DC. (1996). Am J Hum Genet 59:A37
Cyclic Neutropenia

Beneficial effects of stem cell factor (SCF) in children with severe congenital neutropenias refractory to G-CSF

Zeidler C, Vogel R, Wyres M, Welte K (1998). Exp Hematol. 26(8):782 (abstract #366)
Therapy

Bone marrow transplantation (BMT) in patients with severe congenital neutropenia refractory to G-CSF

Zeidler C, Levine JE, Bolyard AA, Bonilla MA, Boxer L, Brown S, Dale DC, Cham B, Fier C, Freedman M, Kannourakis G, Kinsey SE, Mori P, Welte K (1998). Blood 92 (10):136a (abstract #548)
Therapy

Clinical course of autoimmune neutropenia in infancy

Zeidler C, Bux J, Riehm H, Welte K (1996). Exp Hematol.24 (9):1075 (abstract #273)
Autoimmune

Correction of neutropenia and associated clinical symptoms with rhG-CSF in children with severe congenital neutropenia

Welte K, Zeidler C, Reiter A, Odenwald E, Menzel T, Bührer C, Feickert J, Müller W, Souza L, Riehm H (1988).Blood 72(5):139a (abstract #465)
Therapy

Correction of neutropenia in children with glykogenosis 1b by treatment with rhG-CSF

Welte K, Zeidler C, Pietsch T, Rösler J, Schweitzer S, Souza L, Riehm H (1990). Blood 76(10):171a (abstract #675)
Glycogen storage disease type 1b

Correction of severe congenital neutropenia and associated clinical symptoms in children with recombinant human granulocyte-colony stimulating factor (rhG-CSF)

Zeidler C, Reiter A, Müller W, Odenwald E, Souza L, Riehm H, Welte K (1989). Eur J Pediatr 148(5):477 (abstract #1)
Therapy

Correction of severe congenital neutropenia in children with recombinant human granulocyte-colony stimulating factor (rhG-CSF)

Zeidler C, Reiter A, Riehm H, Müller W, Souza L, , Welte K (1989). In: 7 International Congress of Immunology: 884 (abstract # 124-32)
Therapy

Decreased neutrophil elastase activity in patients with severe congenital neutropenia is not correlated to mutations in ELA2

Germeshausen M, Schulz H, Ballmaier M, Lang S, Schaper Y, Zeidler C, Welte K (2000). Blood 96(11):609a (abstract #2614)
Basic Research

Development of AML/MDS in a subset of patients (PTS) with severe chronic neutropenia (SCN)

Dale DC, Bonilla MA, Boxer L, Freedman M, Brown S, Fier C, Welte K. (1994). Blood 84:518a
Leukemia

Development of glomerulonephritis in patients (pts) with severe chronic neutropenia (SCN)

Boxer L, Fier C, Bolyard AA, Bonilla MA, Brown S, Cham B, Freedman M, Kannourakis G, Kinsey SE, Mori P, Zeidler C, Welte K, Dale DC (2000). Blood 96(11):298a (abstract #1284)

Effects of recombinant human interleukin-3 (rhIL-3) in chemotherapy induced myelosuppression in primates

Zeidler C, Krumwieh D, Seiler F, Welte K (1988). Blood 72(5):140a (abstract #469)
Basic Research

G-CSF receptor mutations in patients with severe chronic neutropenia: a step in leukemogenesis?

Welte K, Touw IP for the Severe Chronic Neutropenia International Registry (1997). Blood 90:433a
Leukemia

G-CSF receptor mutations in patients with severe congenital neutropenia: Frequency and implications in leukemic development

Germeshausen M, Tidow N, Pilz C Tschan C, Zeidler C, Welte K (1999). Blood 94(10):45a (abstract #188)
Leukemia

Granulocyte-colony stimulating factor (G-CSF) fort he treatment of adult patients with chronic idiopathic neutropenia and cyclic neutropenia

Freund M, Heussner P, Sandoval M, Kanz L, Zeidler C, Welte K (1991). Onkologie 14: 43 (abstract #122)
Therapy

Growth among patients with severe chronic neutropenia treated with Filgrastim (G-CSF)

Davis RL, Cottle T, Bonilla MA, Box L, Catalano P, Cham B, Fier C, Freedman MH, Kannourakis G, Kinsey S, Mori PG, Welte, Dale DC (1996). Fed Clin Res J Invest Med 45:101A
Therapy

Immunosuppressive therapy (IST) and bone marrow transplantation (BMT) for Aplastic Anamia (AA) in children: Results of the study SAA 94

Führer M, Rampf U, Burdacch S, Dörffel V, Ebell W, Friedrich W, Haas R, Klingebiel T, Niemeyer C, Ritter J, Sörensen J, Stollmann-Gibbels B, Walther JU, Zeidler C, Bender-Götze C (1998). Blood 92(10):156a (abstract #631)

Impaired mobilization of cytosolic free calcium in neutrophils from patients with severe congenital neutropenia

Roesler J, Elsner J, Zeidler C, Lohmann-Matthes ML, Welte K (1992). Blood 80(10):95a (abstract #371)
Basic Research

In vivo effects of interleukin-6 on hematopoiesis in primates

Zeidler C, Souza L, Welte K (1990). Blood 74(7):154a (abstract #574)
Basic Research

In vivo production of granulocyte colony-stimulating factor (G-CSF) in patients with severe congenital neutropenia

Mempel K., Zeidler C, Pietsch T, Menzel T, Welte K (1990). Klin. Pädiatr. 202 (4): 296 (abstract)
Basic Research

In vivo regulation of thrombopoiesis by leukemia inhibitory factor (LIF)

Zeidler C, Kanz L, Pietsch T, Boone T, Samal B, Welte K (1991). Klin. Pädiatr. 203:337 (abstract)
Basic Research

Interleukin-6 regulates thrombopoiesis in primates.

Zeidler C, Hurkuck F, Souza L, Welte K (1990). Klin. Pädiatr. 202 (4): 296 (abstract)
Basic Research

Korrektur der schweren kongenitalen Neutropenie und assoziierter klinischer Symptome bei Kindern mit rekombinantem humanen Granulozyten-Kolonien stimulierendem Faktor

Zeidler C, Reiter A, Müller W, Riehm H, Welte K (1989). Monatsschrift Kinderheilk 137(8):553 (abstract #268)
Therapy

Langzeitbehandlung mit G-CSF bei Kindern mit schweren kongenitalen Neutropenien

Zeidler C, Reiter A, Yakisan E, Riehm H, Welte K (1994). Monatsschrift Kinderheilk 142(8):83 (abstract #354)
Therapy

Leukemia inhibitory factor (LIF) induces thrombocytosis in primates

Zeidler C, Kanz L, Pietsch T, Boone T, Samal B, Welte K (1990). Blood 76(10):174a (abstract #685)
Basic Research

Long term follow up on patients with glycogen storage disease 1b and severe chronic neutropenia treated with G-CSF

Kannourakis G, Cottle T, Bolyard AA, Bonilla MA, Boxer LA, Cham B, Dale DC, Fier C, Kinsey SE, Liang B, Mori PG, Welte K (2000). Blood 96 (11): 294a
Glycogen storage disease type 1b

Long term treatment of chronic idiopathic neutropenia in women with G-CSF

Bolyard AA, T Cottle, MA Bonilla, L Boxer, B Cham, J Donadieu, C Fier, M Freedman, G Kannourakis, S Kinsey, B Liang, B Schwinzer, C Zeidler, K Welte, DC Dale (2001). Blood 98(11):300a (abstract #1265)
Therapy

Long-term effects of rhG-CSF treatment in patients with severe congenital neutropenia

Zeidler C, Reiter A, Yakisan E, Koci B, Riehm H, Welte K (1993). Ann Hematol. 66:A102 (abstract #110)
Therapy

Long-term treatment of chronic idiopathic neutropenia with G-CSF

Dale DC, Cottle T, Bolyard AA, Fier C, Aitchison R, Bonilla MA, Boxer L, Catalano P, Cham B, Freedman M, Kannourakis G, Kinsey SE, Mori P, Zeidler C, Welte K (1997). Blood 90(10):173a (abstract #763)
Therapy

Long-term treatment with recombinant human granulocyte-colony stimulating factor (rhG-CSF) in patients with severe congenital neutropenia

Welte K, Zeidler C, Reiter A, Pietsch T, Souza L, Riehm H, (1993). Blood 74(7):154a (abstract #573)
Therapy

MDS/AML in patients with severe chronic neutropenia (SCN) receiving G-CSF

Freedman MH, Bonilla MA, Boxer L, Catalano P, Cham B, Fier C, Kannourakis G, Kinsey S, Mori PG, Shannon K, Touw I, Welte K, Dale DC, for the Severe Chronic Neutropenia International Registry (1996). Blood 88:448a
Leukemia

Monosomy 7 and activating RAS mutations accompany malignant transformation in patients with congenital neutropenia (CN) treated with recombinant human granulocyte colony stimulating factor (rh-G-CSF)

Kalra R, Dale D, Freedman M, Bonilla MA, Weinblatt M, Ganser A, Bowman P, Abish S, Priest J, Olson K, Paderanga D, Shannon K (1994). Blood 84(10): 313a
Leukemia

Morphologic assessment of marrow aspirates in Severe Congenital Neutropenia (CN) fails to predict evolution to myelodysplastic syndrome (MDS) and acute myeloblastic leukemia (AML)

Head DR, Boxer LA, Bolyard AA, Dale DC (1999). Blood 94 (10): 430a
Leukemia

Mutations in the gene encoding neutrophil elastase (ELA2) are not sufficient to cause congenital neutropenia

Germeshausen M, Ballmaier M, Zeidler C, Schulze H, Welte K (2001). Blood 98(11):440a (abstract # 1844)
Basic Research

Mutations of the G-CSF receptor gene in AML secondary to severe congenital neutropenia

Zeidler C, Germeshausen M, Aprikyan AG, Touw I, Dale DC, Welte K (2000). Blood 96(11):501a (abstract #2159)
Leukemia

Neutropenia in Barth Syndrome: Clinical Course and Treatment of neutropenia

Zeidler C, PG Barth, MA Bonilla, AA Bolyard, L Boxer, T Cottle, DC Dale, J Donadieu, C Fier, M Freedman, G Kannourakis, S Kinsey, B Liang, B Schwinzer, K Welte, B Cham (2001). Blood 98(11):300a (abstract #1264)

Outcomes for hematopoietic stem cell transplantation (HSCT) in severe congenital neutropenia (CN)

Zeidler C, Levine JE, Bolyard AA, Bonilla MA, Boxer L, Brown S, Dale DC, Cham B, Freedman M, Kannourakis G, Kinsey SE, Mori P, Welte K (1999). Blood 94 (10):566a (abstract #2528)
Therapy

Report on patients with glycogen storage disease 1b with severe chronic neutropenia (SCN) treated with Filgrastim

Kannourakis G, Kurtzberg J, Bonilla MA, Boxer L, Catalano P, Cham B, Fier C, Kinsey S, Marty J, Freedman MH, Mori PG, Thompson B, Dale DC, Welte K (1996). Blood 88:349a
Glycogen storage disease type 1b

Report on patients with Shwachman-Diamond syndrome with severe chronic neutropenia

Boxer L, Mori PG, Bonilla MA, Dale D, Cham B, Kinsey S, Welte K, Fier C, Catalano P, Cottle T, Kannourakis G, Freedman M for the Severe Chronic Neutropenia International Registry (1997). Blood 90:182a
Shwachman-Diamond Syndrome

Severe chronic neutropenia: Report on treatment and outcome from a new international registry

Dale DC, Cottle T, Bolyard AA, Fier C, Bonilla MA, Boxer L, Brown SL, Cham B, Freedman M, Kannourakis G, Welte K. (1995). Blood 86:425a
Therapy

The diversity of neutrophil elastase mutations in congenital neutropenia

Aprikyan AG, Germeshausen M, Rodger ER, Stein S, Zeidler C, Welte K, Dale DC (2000). Blood 96(11):445a (abstract #1915)
Congenital Neutropenia - ELANE

The molecular genetic basis of cyclic hematopoiesis

Horwitz M, Benson K, Person, R, Aprikyan A, Dale, D (1999). Blood 94 (10):650a
Cyclic Neutropenia

Time course of increasing numbers of mutations in the granulocyte colony-stimulating factor receptor gene in a patient with congenital neutropenia who developed leukemia

Tschan CA, Pilz C, Forstmeyer D, Möricke A, Zeidler C, Welte K, Germeshausen M (1999). Blood 94(10):47a (abstract #196
Leukemia

Update on the G-CSF receptor gene mutations in patients with severe congenital neutropenia (CN)

Germeshausen M, Jakobs S, Zeidler C, Welte K. (2001). Blood 98(11):441a (abstract #1847)
Leukemia

Effects of granulocyte colony-stimulating factor in children with severe congenital neutropenia

Zeidler C, Reiter A, Riehm H, Welte K (1990): Hematopoietic Growth Factors in Clinical Applications. Edited by R. Mertelsmann and F. Herrmann. Marcel Dekker, Inc.: 225-236

Effects of granulocyte colony-stimulating factor in children with severe congenital neutropenia

Zeidler C, Reiter A, Riehm H, Welte K (1990).In: Hematopoietic Growth Factors in Clinical Applications. Edited by R. Mertelsmann and F. Herrmann. Marcel Dekker, Inc.: 225-236
Therapy

Effects of granulocyte colony-stimulating factor in children with severe neutropenia

Welte K, Zeidler C, Reiter A, Riehm H (1994): Acta Haematol Pol. 25(2 Suppl 1):155-62.
Therapy

Effects of granulocyte colony-stimulating factor in patients with severe chronic neutropenia

Welte K, Zeidler C, Reiter A, Riehm H (1993): New Concepts in Immunodeficiency Diseases. Edited by S. Gupta and C. Griscelli Wiley:355-369
Therapy

In vivo Effects of Interleukin-6 on Thrombopoiesis in Primates

Zeidler C, Kanz L, Hurkuck F, Souza L, Welte K (1990): Cytokines in Hemopoiesis, Oncology, and AIDS II. Edited by M. Freund, H. Link, R.E. Schmidt, K. Welte. Springer-Verlag: 411-416
Therapy

Kongenitale Neutropenien

Zeidler C, Welte K (1999): Pädiatrische Allergologie und Immunologie. Edited by U. Wahn, R. Seger, V. Wahn. Urban und Fischer: 499-506
Congenital Neutropenia - ELANE

Severe congenital neutropenias

Zeidler C, Welte K (1999): Cytokines in the treatment of hematopoietic failure. Edited by A. Ganser and D. Hoelzer. Marcel Dekker, Inc.: 373-386
Therapy

Elastase inhibitors as potential therapies for ELANE-associated neutropenia.

Makaryan V, Kelley ML, Fletcher B, Bolyard AA, Aprikyan AA, Dale DC: J Leukoc Biol. 2017 Oct;102(4):1143-1151. doi: 10.1189/jlb.5A1016-445R. Epub 2017 Jul 28. PubMed PMID: 28754797; PubMed Central PMCID: PMC5597518.
Basic Research

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome

Bellanné-Chantelot C, Schmaltz-Panneau B, Marty C, Fenneteau O, Callebaut I, Clauin S, Docet A, Damaj GL, Leblanc T, Pellier I, Stoven C, Souquere S, Antony-Debré I, Beaupain B, Aladjidi N, Barlogis V, Bauduer F, Bensaid P, Boespflug-Tanguy O, Berger C, Bertrand Y, Carausu L, Fieschi C, Galambrun C, Schmidt A, Journel H, Mazingue F, Nelken B, Quah TC, Oksenhendler E, Ouachée M, Pasquet M, Saada V, Suarez F, Pierron G, Vainchenker W, Plo I, Donadieu J: Blood. 2018 Sep 20;132(12):1318-1331. doi: 10.1182/blood-2017-12-820308. Epub 2018 Jun 18. PubMed PMID: 29914977.
Shwachman-Diamond Syndrome

Neutropenia in glycogen storage disease Ib: outcomes for patients treated with granulocyte colony-stimulating factor.

Dale DC, Bolyard AA, Marrero T, Kelley ML, Makaryan V, Tran E, Leung J, Boxer LA, Kishnani PS, Austin S, Wanner C, Ferrecchia IA, Khalaf D, Maze D, Kurtzberg J, Zeidler C, Welte K, Weinstein DA: Curr Opin Hematol. 2019 Jan;26(1):16-21. doi: 10.1097/MOH.0000000000000474. PubMed PMID: 30451720.
Glycogen storage disease type 1b

Severe congenital neutropenias

Skokowa J, Dale DC, Touw IP, Zeidler C, Welte K: Nat Rev Dis Primers. 2017 Jun 8;3:17032. doi: 10.1038/nrdp.2017.32. Review. PubMed PMID: 28593997; PubMed Central PMCID: PMC5821468.
Congenital Neutropenia

Ultra-Sensitive CSF3R Deep Sequencing in Patients with Severe Congenital Neutropenia

Klimiankou M, Uenalan M, Kandabarau S, Nustede R, Steiert I, Mellor-Heineke S, Zeidler C, Skokowa J, Welte K: Front Immunol. 2019 Feb 28;10:116. doi: 10.3389/fimmu.2019.00116. eCollection 2019. PubMed PMID: 30891028; PubMed Central PMCID: PMC6413711.
Diagnosis