B. Beaupain

发表

Congenital neutropenia: diagnosis, molecular bases and patient management

N. Mahlaoui, J. Donadieu, O. Fenneteau, 2011, Orphanet journal of rare diseases.

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

P. Rohrlich, E. W. Van Den Neste, C. Ferrand, 2013, Blood.

Chronic neutropenia: how best to assess severity and approach management?

C. Klein, C. Bellanné-Chantelot, J. Donadieu, 2021, Expert review of hematology.

Natural history of Barth syndrome: a national cohort study of 22 patients

F. Rivier, R. Touraine, A. Chabli, 2013, Orphanet Journal of Rare Diseases.

Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients

H. Cavé, P. Rohrlich, E. W. Van Den Neste, 2018, Haematologica.

Updated norms of the MOS-SF36 in the young French population

J. Donadieu, B. Beaupain, M. Musiol, 2021 .

ELANE neutropenia and solid tumors: Four cases from the French severe chronic neutropenia registry

L. Quéro, T. Leblanc, C. Bellanné-Chantelot, 2021, Pediatric blood & cancer.

Is pegfilgrastim safe and effective in congenital neutropenia? An analysis of the French Severe Chronic Neutropenia registry

F. Jardin, T. Leblanc, Y. Bertrand, 2009, Pediatric blood & cancer.

of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.

Y. Bertrand, J. Donadieu, O. Fenneteau, 2012 .

High frequency of GATA 2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome , myelodysplasia , and acute myeloid leukemia *

P. Rohrlich, C. Ferrand, C. Bellanné-Chantelot, 2013 .

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

É. Oksenhendler, W. Vainchenker, T. Leblanc, 2018, Blood.

How to differentiate congenital from noncongenital chronic neutropenia at the first medical examination? Proposal of score: A pilot study from the French Severe Chronic Neutropenia registry

C. Bellanné-Chantelot, Y. Bertrand, J. Donadieu, 2017, Pediatric blood & cancer.

Shwachman‐Diamond syndrome and solid tumors: Three new patients from the French Registry for Severe Chronic Neutropenia and literature review

D. Blaise, C. Bellanné-Chantelot, F. Delhommeau, 2021, Pediatric blood & cancer.

PHAGOCYTES, GRANULOCYTES, AND MYELOPOIESIS High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia

C. Ferrand, J. Corre, E. Delabesse, 2017 .

Hematopoietic stem cell transplantation for Shwachman-Diamond syndrome: experience of the French neutropenia registry

A. Fischer, J. Casanova, G. Leverger, 2005, Bone Marrow Transplantation.

Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry

P. Rohrlich, A. Dupuy, Y. Bertrand, 2012, Orphanet Journal of Rare Diseases.

Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry

C. Picard, M. Frémond, J. Bruneau, 2014, Orphanet Journal of Rare Diseases.

Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history

C. Bellanné-Chantelot, J. Donadieu, O. Fenneteau, 2017, British journal of haematology.

Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations

C. Bellanné-Chantelot, S. Beaufils, J. Donadieu, 2014, Pediatric blood & cancer.

Somatic genetic rescue of a germline ribosome assembly defect

P. Revy, A. Warren, P. Bond, 2021, Nature Communications.

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.

P. Revy, A. Warren, C. Bole-Feysot, 2019, Blood.

Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis

Baptiste N. Jaeger, M. Bajénoff, B. Malissen, 2012, The Journal of experimental medicine.

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome

T. Leblanc, C. Bellanné-Chantelot, S. Beaufils, 2012, Haematologica.

Epidemiology of congenital neutropenia.

C. Bellanné-Chantelot, N. Mahlaoui, J. Donadieu, 2013, Hematology/oncology clinics of North America.

Biallelic CXCR2 loss-of-function mutations define a distinct congenital neutropenia entity

T. Leblanc, C. Bellanné-Chantelot, F. Bachelerie, 2021, Haematologica.

Severe chronic primary neutropenia in adults: report on a series of 108 patients.

É. Oksenhendler, P. Moreau, C. Bellanné-Chantelot, 2015, Blood.

Recurrent bacterial infections, but not fungal infections, characterise patients with ELANE‐related neutropenia: a French Severe Chronic Neutropenia Registry study

T. Leblanc, C. Bellanné-Chantelot, S. Blanche, 2021, British journal of haematology.

HSCT may lower leukemia risk in ELANE neutropenia: a before–after study from the French Severe Congenital Neutropenia Registry

C. Bellanné-Chantelot, Y. Bertrand, B. Neven, 2020, Bone Marrow Transplantation.

Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis.

A. Fischer, C. Picard, E. Macintyre, 2011, The Journal of allergy and clinical immunology.

Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia

C. Bellanné-Chantelot, J. Donadieu, I. Plo, 2020, Haematologica.

Update On the Risk of Leukemia in Genetic Subgroups of Congenital Neutropenia (CN): Comparison of Patients with Known Gene Mutations (ELA2, HAX1, WASP, G6PC3, p14).

C. Klein, D. Link, K. Welte, 2009 .

Establishment of MOS-SF36 percentile ranks in the general youth French population

J. Donadieu, B. Beaupain, M. Musiol, 2022, BMC psychology.

Cardiomyopathies and congenital heart diseases in Shwachman-Diamond syndrome: a national survey.

J. Lethor, F. Gottrand, C. Bellanné-Chantelot, 2013, International journal of cardiology.

Respiratory distress and sudden death of a patient with GSDIb chronic neutropenia: possible role of pegfilgrastim

J. Donadieu, B. Beaupain, F. Rety-Jacob, 2009, Haematologica.

Severe Transitory Neonatal Neutropenia Associated with Maternal Autoimmune or Idiopathic Neutropenia

J. Harlé, M. Ebbo, N. Schleinitz, 2019, Journal of Clinical Immunology.

High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia.

P. Rohrlich, C. Ferrand, C. Bellanné-Chantelot, 2013, Blood.

CXCR4 WHIM syndrome is a cancer predisposition condition for virus‐induced malignancies

M. Espéli, K. Balabanian, B. Beaupain, 2024, British journal of haematology.