Les publications

  1. The French national registry of primary immunodeficiency diseases. Clin.Immunol. 2010;135:264-272.
  2. Aguilar C, Malphettes M, Donadieu J et al. Prevention of infections during primary immunodeficiency. Clin Infect.Dis. 2014;59:1462-1470.
  3. Badolato R, Dotta L, Tassone L et al. Tetralogy of fallot is an uncommon manifestation of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome. J.Pediatr. 2012;161:763-765.
  4. Bareau B, Rey J, Hamidou M et al. Analysis of a French cohort of patients with large granular lymphocyte leukemia: a report on 229 cases. Haematologica 2010;95:1534-1541.
  5. Beaupain B, Leblanc T, Reman O et al. Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry. Pediatr.Blood Cancer 2009;53:1068-1073.
  6. Beaussant CS, Fenneteau O, Plouvier E et al. Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry. Orphanet.J.Rare.Dis. 2012;7:71.
  7. Bellanne-Chantelot C, Clauin S, Leblanc T et al. Mutations in the ELA2 gene correlate with more severe expression of neutropenia: a study of 81 patients from the French Neutropenia Register. Blood 2004;103:4119-4125.
  8. Bourgault-Rouxel AS, Loughran TP, Jr., Zambello R et al. Clinical spectrum of gammadelta+ T cell LGL leukemia: analysis of 20 cases. Leuk.Res. 2008;32:45-48.
  9. Boztug K, Appaswamy G, Ashikov A et al. A syndrome with congenital neutropenia and mutations in G6PC3. N.Engl.J.Med. 2009;360:32-43.
  10. Boztug K, Rosenberg PS, Dorda M et al. Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia. J.Pediatr. 2012;160:679-683.
  11.  Boztug K, Jarvinen PM, Salzer E et al. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. Nat.Genet. 2014;46:1021-1027.
  12. Cassinat B, Bellanne-Chantelot C, Notz-Carrere A et al. 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 2004;18:1553-1555.
  13. Cottle TE, Fier CJ, Donadieu J, Kinsey SE. Risk and benefit of treatment of severe chronic neutropenia with granulocyte colony-stimulating factor. Semin.Hematol. 2002;39:134-140.
  14. Dale DC, Bolyard AA, Schwinzer BG et al. The Severe Chronic Neutropenia International Registry: 10-Year Follow-up Report. Support.Cancer Ther. 2006;3:220-231.
  15. Dalle JH, Donadieu J, Paillard C et al. [SFGM-TC recommendation on indications for allogeneic stem cell transplantation in children with congenital neutropenia]. Pathol.Biol.(Paris) 2014;62:209-211.
  16. Desplantes C, Fremond M, Beaupain B et al. Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry. Orphanet.J Rare.Dis. 2014;9:183.
  17. Dodge JA, Chigladze T, Donadieu J et al. The importance of rare diseases: from the gene to society. Arch.Dis.Child 2010
  18. Donadieu J. Risque leucémogéne durant l’utilisation au long cours du G-CSF dans les neutropénies constitutionnelles. Arch.Fr.Pediatr. 1993;50:827.
  19. Donadieu J, Boutard P, Tchernia G et al. A phase II study of recombinant human granulocyte-colony stimulating factor (rHuG-CSF, lenograstim) in the treatment of agranulocytosis in children. Nouv.Rev.Fr.Hematol. 1994;36:441-448.
  20. Donadieu J, Stephan JL, Cartron J et al. Neutropénies acquises et constitutionnelles de l’enfant. Arch.Pediatr. 1994;1:925-935.
  21. Donadieu J, Bader-Meunier B, Bertrand Y et al. Recombinant human G-CSF (Lenograstim) for infectious complications in glycogen storage disease type Ib. Report of 7 cases. Nouv.Rev.Fr.Hematol. 1994;35:529-534.
  22. Donadieu J. Neutropénie congénitale et acquise de l’enfant. Presse Med. 1996;25:293-298.
  23. Donadieu J, Boutard P, Bernatowska E et al. A European phase II study of recombinant human granulocyte colony-stimulating factor (lenograstim) in the treatment of severe chronic neutropenia in children. Lenograstim Study Group. Eur.J.Pediatr. 1997;156:693-700.
  24. Donadieu J. Pathophysiology of Kostmann syndrome: the G-CSF receptor issue. Hematol.Cell Ther. 1997;39:102-104.
  25. Donadieu J, Barkaoui M, Bezard F et al. Renal carcinoma in a patient with glycogen storage disease Ib receiving long-term granulocyte colony-stimulating factor therapy. J.Pediatr.Hematol.Oncol. 2000;22:188-189.
  26. Donadieu J. Diagnostic d’une neutropénie chez l’enfant. Arch.Pediatr. 2003;10 Suppl 4:521s-523s.
  27. Donadieu J, Leblanc T, Bader MB et al. 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 2005;90:45-53.
  28. Donadieu J, Michel G, Merlin E et al. Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry. Bone Marrow Transplant. 2005;36:787-792.
  29. Donadieu, J. and Fenneteau, O. Neutropénies constitutionelles et acquises. 13-010 A07. 2005.  Enc Med Chir. Hématologie. Ref Type: Report
  30. Donadieu J. Is G-CSF-mobilized peripheral stem cell harvest harmful? Pediatr Blood Cancer. 2007;48:594-595.
  31. Donadieu J, Beaupain B, Bellanne-Chantelot C. Granulopoéïse et leucomégénese: ce que nous apportent les neutropénies congénitales. Med.Sci.(Paris) 2008;24:284-289.
  32. Donadieu J, Beaupain B, Rety-Jacob F, Nove-Josserand R. Respiratory distress and sudden death of a patient with GSDIb chronic neutropenia: possible role of pegfilgrastim. Haematologica 2009;94:1175-1177.
  33. Donadieu J, Beaupain B, Bellanne-Chantelot C. La maladie de Shwachman-Diamond:  devenir au long cours et prise en charge. Arch Pediatr. 2011;18:71-72.
  34. Donadieu J, Fenneteau O, Beaupain B, Mahlaoui N, Chantelot CB. Congenital neutropenia: diagnosis, molecular bases and patient management. Orphanet.J.Rare.Dis. 2011;6:26
  35. Donadieu J, Fenneteau O, Beaupain B et al. Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome. Haematologica 2012;97:1312-1319.
  36. Donadieu J, Beaupain B, Mahlaoui N, Bellanne-Chantelot C. Epidemiology of congenital neutropenia. Hematol.Oncol.Clin.North Am. 2013;27:1-17.
  37. Dror Y, Donadieu J, Koglmeier J et al. Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. Ann.N.Y.Acad.Sci. 2011;1242:40-55.
  38. Duan Z, Person RE, Lee HH et al. Epigenetic regulation of protein-coding and microRNA genes by the Gfi1-interacting tumor suppressor PRDM5. Mol.Cell Biol. 2007;27:6889-6902.
  39. Duplomb L, Duvet S, Picot D et al. Cohen syndrome is associated with major glycosylation defects. Hum.Mol.Genet. 2014;23:2391-2399.
  40. Ferry C, Ouachee M, Leblanc T et al. Hematopoietic stem cell transplantation in severe congenital neutropenia: experience of the French SCN register. Bone Marrow Transplant. 2005;35:45-50.
  41. Finch AJ, Hilcenko C, Basse N et al. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. Genes Dev. 2011;25:917-929.
  42. Fioredda F, Iacobelli S, van BA et al. Stem cell transplantation in severe congenital neutropenia: an analysis from the European Society for Blood and Marrow Transplantation. Blood 2015;126:1885-1892.
  43. Ganiou TK, Ailal F, Najib J et al. Intermittent chronic neutropenia in a patient with familial Mediterranean fever. Pediatr Blood Cancer. 2008;51:701-703.
  44. Gauthier-Vasserot A, Thauvin-Robinet C, Bruel AL et al. Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. Am.J Med.Genet.A 2017;173:62-71.
  45. Hauet Q, Beaupain B, Micheau M et al. Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey. Int.J.Cardiol. 2013;167:1048-1050.
  46. Lagresle-Peyrou C, Neven B, Six E et al. Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis. J Allergy Clin.Immunol. 2011;128:230-232.
  47. Latger-Cannard V, Marchand-Arvier M, Vidailhet M et al. Neutrophil adherence receptor deficiency regressing with granulocyte-colony stimulating factor therapy in a case of glycogen storage disease type Ib. Eur.J.Pediatr. 2002;161:87-93.
  48. 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;110:1648-1655.
  49. Maciejewski-Duval A, Meuris F, Bignon A et al. Altered chemotactic response to CXCL12 in patients carrying GATA2 mutations. J Leukoc.Biol. 2016;99:1065-1076.
  50. Pasquet M, Bellanne-Chantelot C, Tavitian S et al. High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood 2013;121:822-829.
  51. Peffault de LR, Peters C, Gibson B et al. Recommendations on hematopoietic stem cell transplantation for inherited bone marrow failure syndromes. Bone Marrow Transplant. 2015
  52. Puga I, Cols M, Barra CM et al. B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen. Nat.Immunol. 2012;13:170-180.
  53. Rigaud C, Lebre AS, Touraine R et al. Natural history of Barth syndrome: a national cohort study of 22 patients. Orphanet.J Rare.Dis. 2013;8:70.
  54. Roques G, Munzer M, Barthez MA et al. Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations. Pediatr.Blood Cancer 2014;61:1041-1048.
  55. Sicre De Fontbrune F, Moignet A, Beaupain B et al. Severe chronic primary neutropenia in adults: report on a series of 108 patients. Blood 2015;126:1643-1650.
  56. Skokowa J, Steinemann D, Katsman-Kuipers JE et al. Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis. Blood 2014;123:2229-2237.
  57. Tidwell T, Wechsler J, Nayak RC et al. Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms. Blood 2014;123:562-569.
  58. Ulinski T, Aoun B, Toubiana J et al. Neutropenia in congenital nephrotic syndrome of the Finnish type: role of urinary ceruloplasmin loss; Blood 2009;113:4820-4821.