Peripheral blood immunophenotyping in a large cohort of patients with Shwachman–Diamond syndrome

Author:

Bezzerri Valentino1ORCID,Vella Antonio2,Gennaro Gianfranco Di3,Ortolani Riccardo2,Nicolis Elena4,Cesaro Simone5ORCID,Fabrizzi Benedetta1,Bronte Vincenzo2,Corey Seth J.6,Cipolli Marco1

Affiliation:

1. Cystic Fibrosis CenterAzienda Ospedaliero Universitaria Ospedali Riuniti Ancona Italy

2. Unit of ImmunologyAzienda Ospedaliera Universitaria Integrata Verona Italy

3. Department of Pathology and DiagnosticsAzienda Ospedaliera Universitaria Integrata Verona Italy

4. Unit of Transfusion MedicineAzienda Ospedaliera Universitaria Integrata Verona Italy

5. Unit of Pediatric Hematology Oncology Azienda Ospedaliera Universitaria Integrata Verona Italy

6. Department of Pediatric Hematology/Oncology and Stem Cell TransplantationCleveland Clinic Cleveland Ohio

Funder

Ministero della Salute

CURE Childhood Cancer

National Institutes of Health

Publisher

Wiley

Subject

Oncology,Hematology,Pediatrics, Perinatology, and Child Health

Reference16 articles.

1. Mutations in SBDS are associated with Shwachman–Diamond syndrome

2. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

3. Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome

4. Shwachman-Diamond Syndrome: Clinical Phenotypes

5. 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;Donadieu J;Haematologica,2005

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