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

Publication ,  Journal Article
Sokolic, R; Maric, I; Kesserwan, C; Garabedian, E; Hanson, IC; Dodds, M; Buckley, R; Issekutz, AC; Kamani, N; Shaw, K; Tan, B; Bali, P ...
Published in: Blood
September 8, 2011

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.

Duke Scholars

Published In

Blood

DOI

EISSN

1528-0020

Publication Date

September 8, 2011

Volume

118

Issue

10

Start / End Page

2688 / 2694

Location

United States

Related Subject Headings

  • Young Adult
  • Severe Combined Immunodeficiency
  • Myelodysplastic Syndromes
  • Male
  • Infant
  • Immunology
  • Humans
  • Genetic Therapy
  • Female
  • Child, Preschool
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Sokolic, R., Maric, I., Kesserwan, C., Garabedian, E., Hanson, I. C., Dodds, M., … Candotti, F. (2011). Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. Blood, 118(10), 2688–2694. https://doi.org/10.1182/blood-2011-01-329359
Sokolic, Robert, Irina Maric, Chimene Kesserwan, Elizabeth Garabedian, I Celine Hanson, Margaret Dodds, Rebecca Buckley, et al. “Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency.Blood 118, no. 10 (September 8, 2011): 2688–94. https://doi.org/10.1182/blood-2011-01-329359.
Sokolic R, Maric I, Kesserwan C, Garabedian E, Hanson IC, Dodds M, et al. Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. Blood. 2011 Sep 8;118(10):2688–94.
Sokolic, Robert, et al. “Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency.Blood, vol. 118, no. 10, Sept. 2011, pp. 2688–94. Pubmed, doi:10.1182/blood-2011-01-329359.
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. Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency. Blood. 2011 Sep 8;118(10):2688–2694.

Published In

Blood

DOI

EISSN

1528-0020

Publication Date

September 8, 2011

Volume

118

Issue

10

Start / End Page

2688 / 2694

Location

United States

Related Subject Headings

  • Young Adult
  • Severe Combined Immunodeficiency
  • Myelodysplastic Syndromes
  • Male
  • Infant
  • Immunology
  • Humans
  • Genetic Therapy
  • Female
  • Child, Preschool