Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency

Détails

ID Serval
serval:BIB_87C05A86BC9C
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency
Périodique
Blood
Auteur(s)
Sokolic R., Maric I., Kesserwan C., Garabedian E., Hanson I. C., Dodds M., Buckley R., Issekutz A. C., Kamani N., Shaw K., Tan B., Bali P., Hershfield M. S., Kohn D. B., Wayne A. S., Candotti F.
ISSN
1528-0020 (Electronic)
ISSN-L
0006-4971
Statut éditorial
Publié
Date de publication
2011
Volume
118
Numéro
10
Pages
2688-94
Langue
anglais
Notes
Sokolic, Robert
Maric, Irina
Kesserwan, Chimene
Garabedian, Elizabeth
Hanson, I Celine
Dodds, Margaret
Buckley, Rebecca
Issekutz, Andrew C
Kamani, Naynesh
Shaw, Kit
Tan, Ben
Bali, Pawan
Hershfield, Michael S
Kohn, Donald B
Wayne, Alan S
Candotti, Fabio
eng
Intramural NIH HHS/
Research Support, N.I.H., Extramural
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Blood. 2011 Sep 8;118(10):2688-94. doi: 10.1182/blood-2011-01-329359. Epub 2011 Jul 1.
Résumé
Genetic deficiency of adenosine deaminase (ADA) can cause profound lymphopenia and result in the clinical presentation of severe combined immune deficiency (SCID). However, because of the ubiquitous expression of ADA, ADA-deficient patients often present also with nonimmunologic clinical problems, affecting the skeletal, central nervous, endocrine, and gastrointestinal systems. We now report that myeloid dysplasia features and bone marrow hypocellularity are often found in patients with ADA-SCID. As a clinical correlate to this finding, we have observed vulnerability to antibiotic-induced myelotoxicity and prolonged neutropenia after nonmyeloablative chemotherapy. We have also noted that, in the absence of enzyme replacement therapy, absolute neutrophil counts of patients with ADA deficiency vary inversely with the accumulation of deoxynucleotides. These data have significant implications for the application of standard and investigational therapies to patients with ADA-SCID and support further studies to investigate the possibility that ADA deficiency is associated with a stem cell defect. These trials were registered at www.clinicaltrials.gov as #NCT00018018 and #NCT00006319.
Mots-clé
Adenosine Deaminase/*deficiency/genetics, Adolescent, Adult, Agammaglobulinemia/*complications/therapy, Bone Marrow/*pathology, Bone Marrow Transplantation, Child, Child, Preschool, Female, Genetic Therapy, Humans, Infant, Male, Myelodysplastic Syndromes/*etiology/therapy, Severe Combined Immunodeficiency/*complications/therapy, Young Adult
Pubmed
Open Access
Oui
Création de la notice
01/11/2017 10:29
Dernière modification de la notice
20/08/2019 14:47
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