Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis

The gene responsible for RD encodes the adenylate kinase 2 (AK2) protein,2,3 a ubiquitous enzyme that induces the reverse transphosphorylation of AMP and ATP molecules into adenosine diphosphate.4 Allogeneic hematopoietic stem cell transplantation (HSCT) can correct hematopoiesis,5 demonstrating tha...

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Veröffentlicht in:	Journal of allergy and clinical immunology 2011-07, Vol.128 (1), p.230-232.e2
Hauptverfasser:	Lagresle-Peyrou, Chantal, PhD, Neven, Bénédicte, MD, Six, Emmanuelle, PhD, Picard, Capucine, MD, PhD, Demerens-de Chappedelaine, Corinne, PhD, Bertrand, Yves, MD, PhD, Jabado, Nada, MD, Chomienne, Christine, MD, PhD, Radford-Weiss, Isabelle, MD, Brouzes, Chantal, MD, Asnafi, Vahid, MD, PhD, MacIntyre, Elizabeth, MD, PhD, Donadieu, Jean, MD, PhD, Beaupain, Blandine, PhD, Fenaux, Pierre, MD, PhD, Eclache, Virginie, MD, Fischer, Alain, MD, PhD, Cavazzana-Calvo, Marina, MD, PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Age of Onset Allergy and Immunology Biological and medical sciences Blood Bone marrow Child Child, Preschool Female Fundamental and applied biological sciences. Psychology Fundamental immunology Hematologic and hematopoietic diseases Hematopoietic Stem Cell Transplantation - adverse effects Humans Immune system Immunopathology Infant, Newborn Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis Leukopenia - immunology Leukopenia - surgery Medical sciences Mutation Myelodysplastic Syndromes - genetics Myelodysplastic Syndromes - immunology Myelodysplastic Syndromes - physiopathology Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis Severe Combined Immunodeficiency - immunology Severe Combined Immunodeficiency - surgery Transplantation Chimera Transplants & implants
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Zusammenfassung:	The gene responsible for RD encodes the adenylate kinase 2 (AK2) protein,2,3 a ubiquitous enzyme that induces the reverse transphosphorylation of AMP and ATP molecules into adenosine diphosphate.4 Allogeneic hematopoietic stem cell transplantation (HSCT) can correct hematopoiesis,5 demonstrating that the defect in RD is intrinsic and not microenvironmental. Â Patient 1 Patient 2 Age (d) 15 25 WBC/mm3 900 390 Lymphocytes/mm3 900 360 Bilateral sensorineural deafness Yes (
ISSN:	0091-6749 1097-6825
DOI:	10.1016/j.jaci.2011.02.008