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Severe congenital neutropenia (CN) (Kostmann syndrome) is a hematologic disorder characterized by a maturation arrest of myelopoiesis at the promyelocyte/myelocyte stage of development. This arrest results in severe neutropenia leading to absolute neutrophil counts (ANC) below 0.2 x 10(9)/L associated with severe bacterial infections from early infancy.(More)
BACKGROUND The lack of a consensus in the literature on the imaging strategy in Langerhans cell histiocytosis (LCH) bone lesions in childhood. OBJECTIVE To evaluate the relative value of radionuclide bone scan (RBS) and radiographic skeletal survey (RSS) in the detection of LCH bone lesions, both in the initial work-up of the disease and during the(More)
Hydroxyurea (HU) enhances the synthesis of fetal hemoglobin (HbF) and can improve the clinical course of some adult patients with sickle cell anemia (SCA). In a randomized trial, we studied the biologic effects and the clinical benefit of HU in children and young adults with severe SCA. Twenty-five patients (median age, 9 years) were randomized to receive(More)
Fifty patients affected by sickle cell anaemia underwent transplantation of HLA-identical haematopoietic stem cells (bone marrow, 48; cord blood, 2). Two groups of patients were considered for transplantation. Group 1 included 36 permanent residents of a European country who, retrospectively, met the inclusion criteria accepted at a consensus conference(More)
A girl with sickle cell anemia was treated with cord blood transplantation combined with hematopoietic growth factor. Cord blood cells were collected from a sister with an identical human leukocyte antigen complex who was a carrier of the sickle cell trait (hemoglobin AS). The patient had complete engraftment and no graft-versus-host disease. The(More)
Five children with severe sickle cell anaemia underwent an HLA compatible allogeneic bone marrow transplantation. In four children the engraftment was rapid and sustained. The fifth child rejected the bone marrow graft and required a second bone marrow transplantation 62 days after the first one. The outcome was then uneventful. In all cases there was(More)
We report the case of an adolescent girl who presents with the 18q-syndrome, primary hypothyroidism, pernicious anemia and IgM hypogammaglobulinemia. Her karyotype was performed during infancy because of malformations and showed deletion of the long arm of chromosome 18. The patient had been treated with levothyroxine (Elthyrone) since age 13 when primary(More)
In 2010, JACIE, the Joint Accreditation Committee of ISCT (International Society for Cell Therapy) Europe and EBMT (European group for Blood and Marrow Transplantation) celebrated the tenth anniversary of the first inspection of a European hematopoietic SCT program. JACIE standards establish the criteria for a comprehensive quality management program that(More)
Hematopoietic stem cell transplantation is the only therapy able to cure sickle cell anemia at the present time. So far, transplantations have been undertaken in approximatively 140 sickle cell patients all over the world, with good results. The selection of patients for transplantation remains a subject of dilemma because of the unpredictable course of the(More)