Document Detail

Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency.
MedLine Citation:
PMID:  21725047     Owner:  NLM     Status:  MEDLINE    
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 as #NCT00018018 and #NCT00006319.
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
Related Documents :
22460267 - Relationship between acute chest syndrome and the sympatho-vagal balance in adults with...
22329367 - Increased arterial stiffness assessed by pulse wave velocity in behçet's disease and it...
11432047 - Lithogenic risk factors for renal stones in patients with crohn's disease.
3947427 - Incidence and magnitude of catheter-induced hematuria.
18989777 - Diagnostic value of serum prolidase enzyme activity to predict the liver histological l...
15836547 - Clinical implications of an accurate problem list on heart failure treatment.
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.:;  NCT00018018
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Adenosine Deaminase / deficiency*,  genetics
Agammaglobulinemia / complications*,  therapy
Bone Marrow / pathology*
Bone Marrow Transplantation
Child, Preschool
Genetic Therapy
Myelodysplastic Syndromes / etiology*,  therapy
Severe Combined Immunodeficiency / complications*,  therapy
Young Adult
Reg. No./Substance:
EC Deaminase
Erratum In:
Blood. 2014 Mar 13;123(11):1767

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

Previous Document:  Real-time automated paging and decision support for critical laboratory abnormalities.
Next Document:  SHP2 tyrosine phosphatase stimulates CEBPA gene expression to mediate cytokine-dependent granulopoie...