Y. Dror, Shwachman-Diamond syndrome, Pediatric Blood & Cancer, vol.I, issue.7, pp.892-901, 2005.
DOI : 10.1002/pbc.20478

G. Boocock, J. Morrison, M. Popovic, N. Richards, L. Ellis et al., Mutations in SBDS are associated with Shwachman???Diamond syndrome, Nature Genetics, vol.16, issue.1, pp.97-101, 2003.
DOI : 10.1093/NAR/25.24.4876

A. Finch, C. Hilcenko, N. Basse, L. Drynan, B. Goyenechea et al., Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome, Genes & Development, vol.25, issue.9, pp.917-946, 2011.
DOI : 10.1101/gad.623011

J. Donadieu, T. Leblanc, B. Bader-meunier, M. Barkaoui, O. Fenneteau 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, vol.90, issue.1, pp.45-53, 2005.

J. Donadieu, G. Michel, E. Merlin, P. Bordigoni, B. Monteux et al., Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry, Bone Marrow Transplantation, vol.13, issue.9, pp.787-92, 2005.
DOI : 10.1038/sj.bmt.1705141

D. Mack, Shwachman-Diamond syndrome, The Journal of Pediatrics, vol.141, issue.2, pp.164-169, 2002.
DOI : 10.1067/mpd.2002.126918

O. Smith, I. Hann, J. Chessells, B. Reeves, and P. Milla, Haematological abnormalities in Shwachman-Diamond syndrome, British Journal of Haematology, vol.94, issue.2, pp.279-283, 1996.
DOI : 10.1046/j.1365-2141.1996.d01-1788.x

J. Donadieu, O. Fenneteau, B. Beaupain, N. Mahlaoui, and C. Bellanne, Congenital neutropenia: diagnosis, molecular bases and patient management, Orphanet Journal of Rare Diseases, vol.6, issue.1, p.26, 2011.
DOI : 10.1038/sj.ejhg.5200366

. Anon, The French national registry of primary immunodeficiency diseases, Clin.Immunol, vol.135, issue.2, pp.264-266, 2010.

B. Beaupain, T. Leblanc, O. Reman, O. Hermine, J. Vannier et al., Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry, Pediatric Blood & Cancer, vol.82, issue.6, pp.1068-73, 2009.
DOI : 10.1002/pbc.22147

C. Bellanne-chantelot, S. Clauin, T. Leblanc, B. Cassinat, F. Rodrigues-lima 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, vol.103, issue.11, pp.4119-4144, 2004.
DOI : 10.1182/blood-2003-10-3518

A. Plebani, A. Ugazio, M. Avanzini, P. Massimi, L. Zonta et al., Serum IgG subclass concentrations in healthy subjects at different age: Age normal percentile charts, European Journal of Pediatrics, vol.49, issue.3, pp.164-171, 1989.
DOI : 10.1007/BF01958271

D. Arber, R. Brunning, and A. Orazi, WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, pp.124-130

U. Germing, C. Aul, C. Niemeyer, R. Haas, and J. Bennett, Epidemiology, classification and prognosis of adults and children with myelodysplastic syndromes, Annals of Hematology, vol.110, issue.6, pp.691-700, 2008.
DOI : 10.1007/s00277-008-0499-3

C. Niemeyer and I. Baumann, Myelodysplastic Syndrome in Children and Adolescents, Seminars in Hematology, vol.45, issue.1, pp.60-70, 2008.
DOI : 10.1053/j.seminhematol.2007.10.006

D. Collet, Modelling survival data in medical research, 1994.
DOI : 10.1007/978-1-4899-3115-3

L. Black, T. Soltau, D. Kelly, and R. Berkow, Shwachman???Diamond syndrome presenting in a premature infant as pancytopenia, Pediatric Blood & Cancer, vol.119, issue.1, pp.123-127, 2008.
DOI : 10.1002/pbc.21550

J. Fleitz, S. Rumelhart, F. Goldman, D. Ambruso, R. Sokol et al., Successful allogeneic hematopoietic stem cell transplantation (HSCT) for Shwachman???Diamond syndrome, Bone Marrow Transplantation, vol.29, issue.1, pp.75-84, 2002.
DOI : 10.1038/sj.bmt.1703321

T. Kuijpers, E. Nannenberg, M. Alders, R. Bredius, and R. Hennekam, Congenital Aplastic Anemia Caused by Mutations in the SBDS Gene: A Rare Presentation of Shwachman-Diamond Syndrome, PEDIATRICS, vol.114, issue.3, pp.387-91, 2004.
DOI : 10.1542/peds.2003-0651-F

R. Vibhakar, M. Radhi, S. Rumelhart, D. Tatman, and F. Goldman, Successful unrelated umbilical cord blood transplantation in children with Shwachman-Diamond syndrome, Bone Marrow Transplantation, vol.105, issue.10, pp.855-61, 2005.
DOI : 10.1038/sj.bmt.1705142

W. Woods, W. Krivit, B. Lubin, and N. Ramsay, Aplastic anemia associated with the Shwachman syndrome In vivo and in vitro observations, Am.J Pediatr.Hematol.Oncol, vol.3, issue.4, pp.347-51, 1981.

N. Barrios and D. Kirkpatrick, SUCCESSFUL CYCLOSPORIN A TREATMENT OF APLASTIC ANAEMIA IN SHWACHMAN-DIAMOND SYNDROME, British Journal of Haematology, vol.312, issue.4, pp.540-541, 1990.
DOI : 10.1016/S0140-6736(76)92780-X

P. Tsai, I. Sahdev, A. Herry, and J. Lipton, Fatal Cyclophosphamide-Induced Congestive Heart Failure in a 10-Year-Old Boy with Shwachman-Diamond Syndrome and Severe Bone Marrow Failure Treated with Allogeneic Bone Marrow Transplantation, Journal of Pediatric Hematology/Oncology, vol.12, issue.4, pp.472-478, 1990.
DOI : 10.1097/00043426-199024000-00012

B. Camitta, CRITERIA FOR SEVERE APLASTIC ANAEMIA, The Lancet, vol.331, issue.8580, pp.303-307, 1988.
DOI : 10.1016/S0140-6736(88)90388-1

J. Cunningham, M. Sales, A. Pearce, J. Howard, R. Stallings et al., Does isochromosome 7q mandate bone marrow transplant in children with Shwachman-Diamond syndrome?, British Journal of Haematology, vol.99, issue.4
DOI : 10.1046/j.1365-2141.2000.01868.x

Y. Dror, P. Durie, H. Ginzberg, R. Herman, A. Banerjee et al., Clonal evolution in marrows of patients with Shwachman-Diamond syndrome, Experimental Hematology, vol.30, issue.7
DOI : 10.1016/S0301-472X(02)00815-9

E. Maserati, A. Minelli, B. Pressato, R. Valli, B. Crescenzi et al., Shwachman syndrome as mutator phenotype responsible for myeloid dysplasia/neoplasia through karyotype instability and chromosomes 7 and 20 anomalies, Genes, Chromosomes and Cancer, vol.104, issue.4, pp.375-82, 2006.
DOI : 10.1002/gcc.20301

A. Minelli, E. Maserati, E. Nicolis, M. Zecca, L. Sainati et al., The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome, Leukemia, vol.23, issue.4, pp.708-719, 2009.
DOI : 10.1038/sj.leu.2401147

G. Porta, E. Mattarucchi, E. Maserati, B. Pressato, R. Valli et al., Monitoring the Isochromosome i(7)(q10) in the Bone Marrow of Patients With Shwachman Syndrome by Real-time Quantitative PCR, Journal of Pediatric Hematology/Oncology, vol.29, issue.3, pp.163-168, 2007.
DOI : 10.1097/MPH.0b013e31803b958e

B. Pressato, C. Marletta, G. Montalbano, R. Valli, and E. Maserati, Improving the definition of the structure of the isochromosome i(7)(q10) in Shwachman-Diamond Syndrome, British Journal of Haematology, vol.19, issue.5, pp.632-635, 2010.
DOI : 10.1111/j.1365-2141.2010.08243.x

A. Smith, P. Shaw, B. Webster, A. Lammi, K. Gaskin et al., INTERMITTENT 20q- AND CONSISTENT i(7q) IN A PATIENT WITH SHWACHMAN-DIAMOND SYNDROME, Pediatric Hematology and Oncology, vol.19, issue.7, pp.525-533, 2002.
DOI : 10.1080/08880010290097350

R. Sokolic, W. Ferguson, and H. Mark, Discordant Detection of Monosomy 7 by GTG-banding and FISH in a Patient with Shwachman-Diamond Syndrome without Evidence of Myelodysplastic Syndrome or Acute Myelogenous Leukemia, Cancer Genetics and Cytogenetics, vol.115, issue.2, pp.106-119, 1999.
DOI : 10.1016/S0165-4608(99)00098-9

C. Mellink, M. Alders, L. Van-der, R. Hennekam, and T. Kuijpers, SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: no predisposition to malignant transformation?, Cancer Genetics and Cytogenetics, vol.154, issue.2, pp.144-153, 2004.
DOI : 10.1016/j.cancergencyto.2004.02.001

Y. Dror, J. Squire, P. Durie, and M. Freedman, Malignant myeloid transformation with isochromosome 7q in Shwachman???Diamond syndrome, Leukemia, vol.12, issue.10, pp.1591-1596, 1998.
DOI : 10.1038/sj.leu.2401147

E. Maserati, A. Minelli, C. Olivieri, L. Bonvini, A. Marchi et al., Isochromosome (7)(q10) in Shwachman Syndrome Without MDS/AML and Role of Chromosome 7 Anomalies in Myeloproliferative Disorders, Cancer Genetics and Cytogenetics, vol.121, issue.2, pp.167-71, 2000.
DOI : 10.1016/S0165-4608(00)00246-6

A. Raj, S. Bertolone, M. Barch, and J. Hersh, Chromosome 20q Deletion and Progression to Monosomy 7 in a Patient With Shwachman-Diamond Syndrome Without MDS/AML, Journal of Pediatric Hematology/Oncology, vol.25, issue.6, pp.508-517, 2003.
DOI : 10.1097/00043426-200306000-00018

A. Cioc, J. Wagner, M. Macmillan, T. Defor, and B. Hirsch, Diagnosis of Myelodysplastic Syndrome Among a Cohort of 119 Patients With Fanconi Anemia, American Journal of Clinical Pathology, vol.133, issue.1
DOI : 10.1309/AJCP7W9VMJENZOVG

T. Kawakami, T. Mitsui, M. Kanai, E. Shirahata, D. Sendo et al., Genetic Analysis of Shwachman-Diamond Syndrome: Phenotypic Heterogeneity in Patients Carrying Identical SBDS Mutations, The Tohoku Journal of Experimental Medicine, vol.206, issue.3, pp.253-262, 2005.
DOI : 10.1620/tjem.206.253

O. Makitie, L. Ellis, P. Durie, J. Morrison, E. Sochett et al., Skeletal phenotype in patients with Shwachman-Diamond syndrome and mutations in SBDS, Clinical Genetics, vol.29, issue.2, pp.101-113, 2004.
DOI : 10.1111/j.0009-9163.2004.00198.x

H. Taneichi, H. Kanegane, T. Futatani, K. Otsubo, K. Nomura et al., Clinical and Genetic Analyses of Presumed Shwachman-Diamond Syndrome in Japan, International Journal of Hematology, vol.84, issue.1, pp.60-62, 2006.
DOI : 10.1532/IJH97.06043

E. Maserati, B. Pressato, R. Valli, A. Minelli, L. Sainati et al., The route to development of myelodysplastic syndrome/acute myeloid leukaemia in Shwachman-Diamond syndrome: the role of ageing, karyotype instability, and acquired chromosome anomalies, British Journal of Haematology, vol.19, issue.2, pp.190-197, 2009.
DOI : 10.1111/j.1365-2141.2009.07611.x

Y. Dror, J. Donadieu, J. Koglmeier, J. Dodge, S. Toiviainen-salo et al., Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome, Annals of the New York Academy of Sciences, vol.28, issue.1, pp.40-55, 2011.
DOI : 10.1111/j.1749-6632.2011.06349.x

L. Arseniev, H. Diedrich, and H. Link, Allogeneic bone marrow transplantation in a patieni with Shwachman-Diamond syndrome, Annals of Hematology, vol.12, issue.2, pp.83-87, 1996.
DOI : 10.1007/BF00641313

N. Bunin, A. Leahey, and S. Dunn, RELATED DONOR LIVER TRANSPLANT FOR VENO-OCCLUSIVE DISEASE FOLLOWING T-DEPLETED UNRELATED DONOR BONE MARROW TRANSPLANTATION, Transplantation, vol.61, issue.4, pp.664-670, 1996.
DOI : 10.1097/00007890-199602270-00028

S. Cesaro, G. Guariso, E. Calore, M. Gazzola, R. Destro et al., Successful unrelated bone marrow transplantation for Shwachman???Diamond syndrome, Bone Marrow Transplantation, vol.27, issue.1, pp.97-106, 2001.
DOI : 10.1038/sj.bmt.1702732

S. Davies, J. Wagner, T. Defor, B. Blazar, E. Katsanis et al., Unrelated donor bone marrow transplantation for children and adolescents with aplastic anaemia or myelodysplasia, British Journal of Haematology, vol.96, issue.4
DOI : 10.1046/j.1365-2141.1997.d01-2087.x

I. Dokal, S. Rule, F. Chen, M. Potter, and J. Goldman, Adult onset of acute myeloid leukaemia (M6) in patients with Shwachman-Diamond syndrome, British Journal of Haematology, vol.99, issue.1, pp.171-174, 1997.
DOI : 10.1046/j.1365-2141.1997.3673181.x

J. Faber, R. Lauener, F. Wick, D. Betts, L. Filgueira et al., Shwachman-Diamond syndrome: early bone marrow transplantation in a high risk patient and new clues to pathogenesis, European Journal of Pediatrics, vol.158, issue.12, pp.995-1000, 1999.
DOI : 10.1007/s004310051265

J. Hsu, G. Vogelsang, R. Jones, and R. Brodsky, Bone marrow transplantation in Shwachman???Diamond syndrome, Bone Marrow Transplantation, vol.30, issue.4, pp.255-263, 2002.
DOI : 10.1038/sj.bmt.1703631

T. Mitsui, T. Kawakami, D. Sendo, M. Katsuura, Y. Shimizu et al., Successful Unrelated Donor Bone Marrow Transplantation for Shwachman-Diamond Syndrome with Leukemia, International Journal of Hematology, vol.12, issue.2, pp.189-191, 2004.
DOI : 10.1532/IJH97.03103

F. Okcu, W. Roberts, and K. Chan, Bone marrow transplantation in Shwachman???Diamond syndrome: report of two cases and review of the literature, Bone Marrow Transplantation, vol.21, issue.8, pp.849-51, 1998.
DOI : 10.1038/sj.bmt.1701170

S. Park, M. Chae, Y. Kwack, M. Lee, I. Kim et al., Allogeneic Bone Marrow Transplantation in Shwachman - Diamond Syndrome with Malignant Myeloid Transformation, The Korean Journal of Internal Medicine, vol.17, issue.3, pp.204-210, 2002.
DOI : 10.3904/kjim.2002.17.3.204

D. Ritchie, P. Angus, P. Bhathal, and A. Grigg, Liver failure complicating non-alcoholic steatohepatitis following allogeneic bone marrow transplantation for Shwachman???Diamond syndrome, Bone Marrow Transplantation, vol.29, issue.11, pp.931-934, 2002.
DOI : 10.1038/sj.bmt.1703549