Publications

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

                                                                         

 Leukemia   Shwachman-Diamond Syndrome   Therapy

 

Manuscripts

1. Cesaro S, Pillon M, Sauer M, Smiers F, Faraci M, de Heredia CD, Wynn R, Greil J, Locatelli F, Veys P, Uyttebroeck A, Ljungman P, Chevalier P, Ansari M, Badell I, Gungor T, Salim R, Tischer J, Tecchio C, Russell N, Chybicka A, Styczynski J, Krivan G, Smith O, Stein J, Afanasyev B, Pochon C, Menconi MC, Bosman P, Mauro M, Tridello G, de Latour RP, Dufour C. Long-term outcome after allogeneic hematopoietic stem cell transplantation for shwachman-diamond syndrome: A retrospective analysis and a review of the literature by the severe aplastic anemia working party of the european society for blood and marrow transplantation (SAAWP-EBMT). Bone Marrow Transplant [Internet]. 2020 September 01;55(9):1796-809.

2. Myers K, Hebert K, Antin J, Boulad F, Burroughs L, Hofmann I, Kamble R, MacMillan ML, Eapen M. Hematopoietic stem cell transplantation for shwachman-diamond syndrome. Biol Blood Marrow Transplant [Internet]. 2020 August 01;26(8):1446-51.

3. Koh AL, Bonnard C, Lim JY, Liew WK, Thoon KC, Thomas T, Ali NAB, Ng AYJ, Tohari S, Phua KB, Venkatesh B, Reversade B, Jamuar SS. Heterozygous missense variant in EIF6 gene: A novel form of shwachman-diamond syndrome? Am J Med Genet A [Internet]. 2020 July 13

4. Furutani E, Shah AS, Zhao Y, Andorsky D, Dedeoglu F, Geddis A, Zhou Y, Libermann TA, Myers KC, Shimamura A. Inflammatory manifestations in patients with shwachman-diamond syndrome: A novel phenotype. Am J Med Genet A [Internet]. 2020 July 01;182(7):1754-60.

5. Bezzerri V, Api M, Allegri M, Fabrizzi B, Corey SJ, Cipolli M. Nonsense suppression therapy: New hypothesis for the treatment of inherited bone marrow failure syndromes. Int J Mol Sci [Internet]. 2020 June 30;21(13):10.3390/ijms21134672.

6. Papadaki HA, Mavroudi I, Almeida A, Bux J, Cichy J, Dale DC, Donadieu J, Hoglund P, Karanfilski O, Mecucci C, Palmblad J, Skokowa J, Stamatopoulos K, Touw I, Warren AJ, Welte K, Zeidler C, Dufour C. Congenital and acquired chronic neutropenias: Challenges, perspectives and implementation of the EuNet-INNOCHRON action. Hemasphere [Internet]. 2020 June 08;4(3):e406.

7. Cesaro S, Pegoraro A, Sainati L, Lucidi V, Montemitro E, Corti P, Ramenghi U, Nasi C, Menna G, Zecca M, Danesino C, Nicolis E, Pasquali F, Perobelli S, Tridello G, Farruggia P, Cipolli M. A prospective study of hematologic complications and long-term survival of italian patients affected by shwachman-diamond syndrome. J Pediatr [Internet]. 2020 April 01;219:196,201.e1.

8. Hao Q, Wang J, Chen Y, Wang S, Cao M, Lu H, Zhou X. Dual regulation of p53 by the ribosome maturation factor SBDS. Cell Death Dis [Internet]. 2020 March 20;11(3):197-4.

9. Myers KC, Furutani E, Weller E, Siegele B, Galvin A, Arsenault V, Alter BP, Boulad F, Bueso-Ramos C, Burroughs L, Castillo P, Connelly J, Davies SM, DiNardo CD, Hanif I, Ho RH, Karras N, Manalang M, McReynolds LJ, Nakano TA, Nalepa G, Norkin M, Oberley MJ, Orgel E, Pastore YD, Rosenthal J, Walkovich K, Larson J, Malsch M, Elghetany MT, Fleming MD, Shimamura A. Clinical features and outcomes of patients with shwachman-diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: A multicentre, retrospective, cohort study. Lancet Haematol [Internet]. 2020 March 01;7(3):e238-46.

10. Heidemann S, Bursic B, Zandi S, Li H, Abelson S, Klaassen RJ, Abish S, Rayar M, Breakey VR, Moshiri H, Dhanraj S, de Borja R, Shlien A, Dick JE, Dror Y. Cellular and molecular architecture of hematopoietic stem cells and progenitors in genetic models of bone marrow failure. JCI Insight [Internet]. 2020 February 27;5(4):10.1172/jci.insight.131018.

11. Lawal OS, Mathur N, Eapi S, Chowdhury R, Malik BH. Liver and cardiac involvement in shwachman-diamond syndrome: A literature review. Cureus [Internet]. 2020 January 16;12(1):e6676.

12. Khan AW, Minelli A, Frattini A, Montalbano G, Bogni A, Fabbri M, Porta G, Acquati F, Pinto RM, Bergami E, Mura R, Pegoraro A, Cesaro S, Cipolli M, Zecca M, Danesino C, Locatelli F, Maserati E, Pasquali F, Valli R. Microarray expression studies on bone marrow of patients with shwachman-diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype. Mol Cytogenet [Internet]. 2020 January 02;13:1,9. eCollection 2020.

13. Farooqui SM, Ward R, Aziz M. Shwachman-Diamond Syndrome In: StatPearls. [Internet]. Treasure Island (FL): StatPearls Publishing LLC; 2020 DOI: NBK507866 [bookaccession]

14. Delre P, Alberga D, Gijsbers A, Sanchez-Puig N, Nicolotti O, Saviano M, Siliqi D, Mangiatordi GF. Exploring the role of elongation factor-like 1 (EFL1) in shwachman-diamond syndrome through molecular dynamics. J Biomol Struct Dyn [Internet]. 2019 December 20:1-11.

15. Mourad S, Bilodeau M, Roussy M, Laramee L, Boulianne L, Rouette A, Jouan L, Gendron P, Duval M, Teira P, Hebert J, Bittencourt H, Pastore Y, Landry JR, Cellot S. IDH1 as a cooperating mutation in AML arising in the context of shwachman-diamond syndrome. Front Oncol [Internet]. 2019 August 14;9:772.

16. Tan S, Kermasson L, Hoslin A, Jaako P, Faille A, Acevedo-Arozena A, Lengline E, Ranta D, Poiree M, Fenneteau O, Ducou le Pointe H, Fumagalli S, Beaupain B, Nitschke P, Bole-Feysot C, de Villartay JP, Bellanne-Chantelot C, Donadieu J, Kannengiesser C, Warren AJ, Revy P. EFL1 mutations impair eIF6 release to cause shwachman-diamond syndrome. Blood [Internet]. 2019 July 18;134(3):277-90.

17. Kargas V, Castro-Hartmann P, Escudero-Urquijo N, Dent K, Hilcenko C, Sailer C, Zisser G, Marques-Carvalho MJ, Pellegrino S, Wawiorka L, Freund SM, Wagstaff JL, Andreeva A, Faille A, Chen E, Stengel F, Bergler H, Warren AJ. Mechanism of completion of peptidyltransferase centre assembly in eukaryotes. Elife [Internet]. 2019 May 22;8:10.7554/eLife.44904.

18. Bezzerri V, Vella A, Gennaro GD, Ortolani R, Nicolis E, Cesaro S, Fabrizzi B, Bronte V, Corey SJ, Cipolli M. Peripheral blood immunophenotyping in a large cohort of patients with shwachman-diamond syndrome. Pediatr Blood Cancer [Internet]. 2019 May 01;66(5):e27597.

19. Morini J, Nacci L, Babini G, Cesaro S, Valli R, Ottolenghi A, Nicolis E, Pintani E, Maserati E, Cipolli M, Danesino C, Scotti C, Minelli A. Whole exome sequencing discloses heterozygous variants in the DNAJC21 and EFL1 genes but not in SRP54 in 6 out of 16 patients with shwachman-diamond syndrome carrying biallelic SBDS mutations. Br J Haematol [Internet]. 2019 May 01;185(3):627-30.

20. Ruiz-Gutierrez M, Bolukbasi OV, Alexe G, Kotini AG, Ballotti K, Joyce CE, Russell DW, Stegmaier K, Myers K, Novina CD, Papapetrou EP, Shimamura A. Therapeutic discovery for marrow failure with MDS predisposition using pluripotent stem cells. JCI Insight [Internet]. 2019 April 30;5:10.1172/jci.insight.125157.

21. Bezzerri V, Cipolli M. Shwachman-diamond syndrome: Molecular mechanisms and current perspectives. Mol Diagn Ther [Internet]. 2019 April 01;23(2):281-90.

22. Kennedy AL, Shimamura A. Genetic predisposition to MDS: Clinical features and clonal evolution. Blood [Internet]. 2019 March 07;133(10):1071-85.

23. Valli R, Minelli A, Galbiati M, D'Amico G, Frattini A, Montalbano G, Khan AW, Porta G, Millefanti G, Olivieri C, Cipolli M, Cesaro S, Pasquali F, Danesino C, Cazzaniga G, Maserati E. Shwachman-diamond syndrome with clonal interstitial deletion of the long arm of chromosome 20 in bone marrow: Haematological features, prognosis and genomic instability. Br J Haematol [Internet]. 2019 March 01;184(6):974-81.

24. Nacci L. Genetics for understanding the clinical features of shwachman-diamond syndrome. Br J Haematol [Internet]. 2019 March 01;184(5):710-1.

25. Klimiankou M, Uenalan M, Kandabarau S, Nustede R, Steiert I, Mellor-Heineke S, Zeidler C, Skokowa J, Welte K. Ultra-sensitive CSF3R deep sequencing in patients with severe congenital neutropenia. Front Immunol [Internet]. 2019 February 28;10:116.

26. Link DC. Mechanisms of leukemic transformation in congenital neutropenia. Curr Opin Hematol [Internet]. 2019 January 01;26(1):34-40.

27. Gijsbers A, Montagut DC, Mendez-Godoy A, Altamura D, Saviano M, Siliqi D, Sanchez-Puig N. Interaction of the GTPase elongation factor like-1 with the shwachman-diamond syndrome protein and its missense mutations. Int J Mol Sci [Internet]. 2018 December 12;19(12):10.3390/ijms19124012.

28. Tan QK, Cope H, Spillmann RC, Stong N, Jiang YH, McDonald MT, Rothman JA, Butler MW, Frush DP, Lachman RS, Lee B, Bacino CA, Bonner MJ, McCall CM, Pendse AA, Walley N, Undiagnosed Diseases Network, Shashi V, Pena LDM. Further evidence for the involvement of EFL1 in a shwachman-diamond-like syndrome and expansion of the phenotypic features. Cold Spring Harb Mol Case Stud [Internet]. 2018 October 01;4(5):10.1101/mcs.a003046. Print 2018 Oct.

29. Bellanne-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-Debre 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, Ouachee M, Pasquet M, Saada V, Suarez F, Pierron G, Vainchenker W, Plo I, Donadieu J. Mutations in the SRP54 gene cause severe congenital neutropenia as well as shwachman-diamond-like syndrome. Blood [Internet]. 2018 September 20;132(12):1318-31.

30. Nelson AS, Myers KC. Diagnosis, treatment, and molecular pathology of shwachman-diamond syndrome. Hematol Oncol Clin North Am [Internet]. 2018 August 01;32(4):687-700.

31. Ikuse T, Kudo T, Arai K, Fujii Y, Ida S, Ishii T, Mushiake S, Nagata K, Tamai H, Toki A, Tomomasa T, Ushijima K, Yanagi T, Yonekura T, Taguchi T, Shimizu T. Shwachman-diamond syndrome: Nationwide survey and systematic review in japan. Pediatr Int [Internet]. 2018 August 01;60(8):719-26.

32. Bardelli D, Dander E, Bugarin C, Cappuzzello C, Pievani A, Fazio G, Pierani P, Corti P, Farruggia P, Dufour C, Cesaro S, Cipolli M, Biondi A, D'Amico G. Mesenchymal stromal cells from shwachman-diamond syndrome patients fail to recreate a bone marrow niche in vivo and exhibit impaired angiogenesis. Br J Haematol [Internet]. 2018 July 01;182(1):114-24.

33. Warren AJ. Molecular basis of the human ribosomopathy shwachman-diamond syndrome. Adv Biol Regul [Internet]. 2018 January 01;67:109-27.

34. Shimosato Y, Tanoshima R, Tsujimoto SI, Takeuchi M, Sasaki K, Kajiwara R, Goto H, Nagai J, Yanagimachi MD, Ito S, Yokota S. Association of isochromosome (7)(q10) in shwachman-diamond syndrome with the severity of cytopenia. Clin Case Rep [Internet]. 2017 December 05;6(1):125-8.

35. Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Leduc MS, Yang Y, Bergstrom KL, Mahoney DH, Shardy DL, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Rolli V, Muller JS, Alghisi E, Sauteur L, Macquin C, Morlon A, Sancho CS, Amati-Bonneau P, Procaccio V, Mosca-Boidron AL, Marle N, Osmani N, Lefebvre O, Goetz JG, Unal S, Akarsu NA, Radosavljevic M, Chenard MP, Rialland F, Grain A, Bene MC, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Myers K, Fleming MD, Shimamura A, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with shwachman-diamond-like features. J Clin Invest [Internet]. 2017 November 01;127(11):4090-103.

36. Donadieu J, Beaupain B, Fenneteau O, Bellanne-Chantelot C. Congenital neutropenia in the era of genomics: Classification, diagnosis, and natural history. Br J Haematol [Internet]. 2017 November 01;179(4):557-74.

37. Stepensky P, Chacon-Flores M, Kim KH, Abuzaitoun O, Bautista-Santos A, Simanovsky N, Siliqi D, Altamura D, Mendez-Godoy A, Gijsbers A, Naser Eddin A, Dor T, Charrow J, Sanchez-Puig N, Elpeleg O. Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-diamond like syndrome. J Med Genet [Internet]. 2017 August 01;54(8):558-66.

38. Wegman-Ostrosky T, Savage SA. The genomics of inherited bone marrow failure: From mechanism to the clinic. Br J Haematol [Internet]. 2017 May 01;177(4):526-42.

39. Savage SA, Dufour C. Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia. Semin Hematol [Internet]. 2017 April 01;54(2):105-14.

40. Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y. Biallelic mutations in DNAJC21 cause shwachman-diamond syndrome. Blood [Internet]. 2017 March 16;129(11):1557-62.

41. Lindsley RC, Saber W, Mar BG, Redd R, Wang T, Haagenson MD, Grauman PV, Hu ZH, Spellman SR, Lee SJ, Verneris MR, Hsu K, Fleischhauer K, Cutler C, Antin JH, Neuberg D, Ebert BL. Prognostic mutations in myelodysplastic syndrome after stem-cell transplantation. N Engl J Med [Internet]. 2017 February 09;376(6):536-47.

42. Calamita P, Miluzio A, Russo A, Pesce E, Ricciardi S, Khanim F, Cheroni C, Alfieri R, Mancino M, Gorrini C, Rossetti G, Peluso I, Pagani M, Medina DL, Rommens J, Biffo S. SBDS-deficient cells have an altered homeostatic equilibrium due to translational inefficiency which explains their reduced fitness and provides a logical framework for intervention. PLoS Genet [Internet]. 2017 January 05;13(1):e1006552.

43. Freedman RA, Seisler DK, Foster JC, Sloan JA, Lafky JM, Kimmick GG, Hurria A, Cohen HJ, Winer EP, Hudis CA, Partridge AH, Carey LA, Jatoi A, Klepin HD, Citron M, Berry DA, Shulman LN, Buzdar AU, Suman VJ, Muss HB. Risk of acute myeloid leukemia and myelodysplastic syndrome among older women receiving anthracycline-based adjuvant chemotherapy for breast cancer on modern cooperative group trials (alliance A151511). Breast Cancer Res Treat [Internet]. 2017 January 01;161(2):363-73.

44. 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 [Internet]. 2016 April 01;1370(1):119-25.

45. Ryan TD, Jefferies JL, Chin C, Sticka JJ, Taylor MD, Harris R, Moore J, Goodridge E, Mount L, Bolyard AA, Otto B, Jones A, Shimamura A, Davies S, Myers K. Abnormal circumferential strain measured by echocardiography is present in patients with shwachman-diamond syndrome despite normal shortening fraction. Pediatr Blood Cancer [Internet]. 2015 July 01;62(7):1228-31.

46. Pressato B, Valli R, Marletta C, Mare L, Montalbano G, Curto FL, Pasquali F, Maserati E. Cytogenetic monitoring in shwachman-diamond syndrome: A note on clonal progression and a practical warning. J Pediatr Hematol Oncol [Internet]. 2015 May 01;37(4):307-10.

47. Ruggero D, Shimamura A. Marrow failure: A window into ribosome biology. Blood [Internet]. 2014 October 30;124(18):2784-92.

48. Skokowa J, Steinemann D, Katsman-Kuipers JE, Zeidler C, Klimenkova O, Klimiankou M, Unalan M, Kandabarau S, Makaryan V, Beekman R, Behrens K, Stocking C, Obenauer J, Schnittger S, Kohlmann A, Valkhof MG, Hoogenboezem R, Gohring G, Reinhardt D, Schlegelberger B, Stanulla M, Vandenberghe P, Donadieu J, Zwaan CM, Touw IP, van den Heuvel-Eibrink, M M, Dale DC, Welte K. Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: A unique pathway in myeloid leukemogenesis. Blood [Internet]. 2014 April 03;123(14):2229-37.

49. 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 [Internet]. 2014 April 01;164(4):866-70.

50. Myers KC, Rose SR, Rutter MM, Mehta PA, Khoury JC, Cole T, Harris RE. Endocrine evaluation of children with and without shwachman-bodian-diamond syndrome gene mutations and shwachman-diamond syndrome. J Pediatr [Internet]. 2013 June 01;162(6):1235,40, 1240.e1.

51. Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, Kerr E, Zeidler C, Shimamura A, Shah N, Cipolli M, Kuijpers T, Durie P, Rommens J, Siderius L, Liu JM. Draft consensus guidelines for diagnosis and treatment of shwachman-diamond syndrome. Ann N Y Acad Sci [Internet]. 2011 December 01;1242:40-55.

52. Huang JN, Shimamura A. Clinical spectrum and molecular pathophysiology of shwachman-diamond syndrome. Curr Opin Hematol [Internet]. 2011 January 01;18(1):30-5.

53. Burroughs L, Woolfrey A, Shimamura A. Shwachman-diamond syndrome: A review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment. Hematol Oncol Clin North Am [Internet]. 2009 April 01;23(2):233-48.

54. Welte K, Zeidler C. Severe congenital neutropenia. Hematol Oncol Clin North Am [Internet]. 2009 April 01;23(2):307-20.

55. Myers KC, Davies SM. Hematopoietic stem cell transplantation for bone marrow failure syndromes in children. Biol Blood Marrow Transplant [Internet]. 2009 March 01;15(3):279-92.

56. Dror Y. Shwachman-diamond syndrome: Implications for understanding the molecular basis of leukaemia. Expert Rev Mol Med [Internet]. 2008 December 23;10:e38.

57. Zeidler C, Welte K. Hematopoietic growth factors for the treatment of inherited cytopenias. Semin Hematol [Internet]. 2007 July 01;44(3):133-7.

58. Skokowa J, Germeshausen M, Zeidler C, Welte K. Severe congenital neutropenia: Inheritance and pathophysiology. Curr Opin Hematol [Internet]. 2007 January 01;14(1):22-8.

59. 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. LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia. Nat Med [Internet]. 2006 October 01;12(10):1191-7.

60. Dror Y. Shwachman-diamond syndrome. Pediatr Blood Cancer [Internet]. 2005 December 01;45(7):892-901.

61. 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. Hematopoietic stem cell transplantation for shwachman-diamond syndrome: Experience of the french neutropenia registry. Bone Marrow Transplant [Internet]. 2005 November 01;36(9):787-92.

62. Shammas C, Menne TF, Hilcenko C, Michell SR, Goyenechea B, Boocock GR, Durie PR, Rommens JM, Warren AJ. Structural and mutational analysis of the SBDS protein family. insight into the leukemia-associated shwachman-diamond syndrome. J Biol Chem [Internet]. 2005 May 13;280(19):19221-9.

63. 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, 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 [Internet]. 2005 January 01;90(1):45-53.

64. Zeidler C. Congenital neutropenias. Hematology [Internet]. 2005;10 Suppl 1:306-11.

65. Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM. Mutations in SBDS are associated with shwachman-diamond syndrome. Nat Genet [Internet]. 2003 January 01;33(1):97-101.

66. Dror Y. P53 protein overexpression in shwachman-diamond syndrome. Arch Pathol Lab Med [Internet]. 2002 October 01;126(10):1157,8; author reply 1158.

67. Zeidler C, Schwinzer B, Welte K. Severe congenital neutropenia: Trends in diagnosis and therapy. Klin Padiatr [Internet]. 2000 August 01;212(4):145-52.

68. 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. Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation. Blood [Internet]. 2000 February 15;95(4):1195-8.

69. Nelson A, Myers K. Shwachman-Diamond Syndrome In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean, L J H, Stephens K, Amemiya A, editors. GeneReviews((R)). [Internet]. Seattle (WA): University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved; 1993 DOI: NBK1756 [bookaccession]

70. SHWACHMAN H, DIAMOND LK, OSKI FA, KHAW KT. The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr [Internet]. 1964 November 01;65:645-63.

71. BODIAN M, SHELDON W, LIGHTWOOD R. Congenital hypoplasia of the exocrine pancreas. Acta Paediatr [Internet]. 1964 May 01;53:282-93.

 

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).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 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 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