Occurrence of myelodysplastic syndrome in 2 patients with reticular dysgenesis

• Published in: Journal of allergy and clinical immunology Vol. 128; no. 1; pp. 230 - 232.e2
• Main Authors: 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: Journal Article
• Language: English
• Published: New York, NY Mosby, Inc 01.07.2011; Elsevier; Elsevier Limited
• Subjects: 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; Human; Immunopathology; Malignant hemopathy; Immunology; Myelodysplastic syndrome; Cancer
• ISSN: 0091-6749; 1097-6825
• DOI: 10.1016/j.jaci.2011.02.008

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.  Patient 1 Patient 2 Age (d) 15 25 WBC/mm3 900 390 Lymphocytes/mm3 900 360 Bilateral sensorineural deafness Yes (<80 dB) Yes (<80 dB) AK2 mutation2 R186CDel exon2 L183X CR-1st HSCT (total dose) Busulfan: 8 mg/kg Cyclophosphamide: 200 mg/kg Busulfan: 16 mg/kgCyclophosphamide: 200 mg/kg + antithymocyte globulin (20 mg/kg) Donor compatibility Mother haploidentical Mother haploidentical GVHD Grade III, transient No Donor engraftment Myeloid cells: host Myeloid cells: host  Lymphoid cells: donor Lymphoid cells: donor G-CSF treatment6   Cumulative dose (μg/kg) 5910 2032 Average daily dose (μg/kg) 8.6 3.6 CR-2nd HSCT (total dose) Busulfan: 16 mg/kgCyclophosphamide: 200 mg/kg Busulfan: 25 mg/kgCyclophosphamide: 200 mg/kg Donor compatibility Mother haploidentical Mother haploidentical Table I Clinical features of 2 patients with RD at the time of diagnosis GVHD, Graft-versus-host disease.