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

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Sokolic, R; Maric, I; Kesserwan, C; Garabedian, E; Hanson, IC; Dodds, M; Buckley, R; Issekutz, AC; Kamani, N; Shaw, K; Tan, B; Bali, P; Hershfield, MS; Kohn, DB; Wayne, AS; Candotti, F

Published Date

  • September 8, 2011

Published In

Volume / Issue

  • 118 / 10

Start / End Page

  • 2688 - 2694

PubMed ID

  • 21725047

Pubmed Central ID

  • PMC3172788

Electronic International Standard Serial Number (EISSN)

  • 1528-0020

Digital Object Identifier (DOI)

  • 10.1182/blood-2011-01-329359


  • eng

Conference Location

  • United States