Document Detail


Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency.
MedLine Citation:
PMID:  21725047     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Robert Sokolic; Irina Maric; Chimene Kesserwan; Elizabeth Garabedian; I Celine Hanson; Margaret Dodds; Rebecca Buckley; Andrew C Issekutz; Naynesh Kamani; Kit Shaw; Ben Tan; Pawan Bali; Michael S Hershfield; Donald B Kohn; Alan S Wayne; Fabio Candotti
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Publication Detail:
Type:  Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't     Date:  2011-07-01
Journal Detail:
Title:  Blood     Volume:  118     ISSN:  1528-0020     ISO Abbreviation:  Blood     Publication Date:  2011 Sep 
Date Detail:
Created Date:  2011-09-09     Completed Date:  2011-11-02     Revised Date:  2014-04-23    
Medline Journal Info:
Nlm Unique ID:  7603509     Medline TA:  Blood     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2688-94     Citation Subset:  AIM; IM    
Data Bank Information
Bank Name/Acc. No.:
ClinicalTrials.gov/NCT00006319;  NCT00018018
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MeSH Terms
Descriptor/Qualifier:
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
Chemical
Reg. No./Substance:
EC 3.5.4.4/Adenosine Deaminase
Comments/Corrections
Erratum In:
Blood. 2014 Mar 13;123(11):1767

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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