Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: A case report

Blood

Volumn 109, Issue 2, 2007, Pages 503-506

  Engel, Barbara C ^a   Podsakoff, Greg M ^a   Ireland, Joanna L ^a   Smogorzewska, E Monika ^a   Carbonaro, Denise A ^a   Wilson, Kathy ^a   Shah, Ami ^a   Kapoor, Neena ^a   Sweeney, Mirna ^b   Borchert, Mark ^a   Crooks, Gay M ^a   Weinberg, Kenneth I ^a   Parkman, Robertson ^a   Rosenblatt, Howard M ^d   Wu, Shi Qi ^c   Hershfield, Michael S ^e   Candotti, Fabio ^f   Kohn, Donald B ^a,c  

^a Division of Research Immunology/Bone Marrow Transplantation   (United States)

^b General Clinical Research Center   (United States)

^c CHILDREN S HOSPITAL LOS ANGELES   (United States)

^d BAYLOR COLLEGE OF MEDICINE   (United States)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

^f NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DEAMINASE; BUSULFAN; CYANOCOBALAMIN; DAPSONE; FOLINIC ACID; PEGADEMASE; PENTAMIDINE;

ARTICLE; BONE MARROW BIOPSY; BONE MARROW CELL; BONE MARROW SUPPRESSION; CASE REPORT; CD34 SELECTION; CHROMOSOME MOSAICISM; COMBINED IMMUNODEFICIENCY; DRUG SUBSTITUTION; DRUG WITHDRAWAL; ENZYME DEFICIENCY; ENZYME REPLACEMENT; FEMALE; GENE THERAPY; GENE TRANSFER; GRANULOCYTOPENIA; HEMATOPOIETIC STEM CELL; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; PANCYTOPENIA; PRESCHOOL CHILD; PRIORITY JOURNAL; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA; TRISOMY 8;

EID: 33846196566     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2006-06-031476     Document Type: Article

References (14)

1. Robbins PB, Skelton DM, Yu XJ, Halene S, Leonard EH, Kohn DB. Consistent, persistent expression from modified retroviral vectors in murine hematopoietic stem cells. Proc Natl Acad Sci U S A. 1998;95:10182-10187.
2. Onodera M, Nelson DM, Yachie A, et al. Development of improved adenosine deaminase retroviral vectors. J Virol. 1998;72:1769-1774.
3. Homeida M, Babikr A, Daneshmend TK. Dapsone-induced optic atrophy and motor neuropathy. Br Med J. 1980;281:1180.
4. Coleman MD. Dapsone-mediated agranulocytosis: risks, possible mechanisms and prevention. Toxicology. 2001;162:53-60.
5. Secker-Walker LM, Fitchett M. Constitutional and acquired trisomy 8. Leuk Res. 1995;19:737-740.
6. Anwar S, Bradshaw K, Vivian AJ. Ophthalmic manifestations of trisomy 8 mosaic syndrome. Ophthalmic Genet. 1998;19:81-86.
7. Papanikolaou K, Paliokosta E, Gyftodimou J, et al. A case of partial trisomy of chromosome 8p associated with autism. J Autism Dev Disord. 2006;36:705-709.
8. Nowell PC, Besa EC. Prognostic significance of single chromosome abnormalities in preleukemic states. Cancer Genet Cytogenet. 1989;42:1-7.
9. Hershfield MS. Genotype is an important determinant of phenotype in adenosine deaminase deficiency. Curr Opin Immunol. 2003;15:571-577.
10. Rogers MH, Lwin R, Fairbanks L, Gerritsen B, Gaspar HB. Cognitive and behavioral abnormalities in adenosine deaminase deficient severe combined immunodeficiency. J Pediatr. 2001;139:44-50.
11. Narendran A, Hawkins LM, Ganjavi H, et al. Characterization of bone marrow stromal abnormalities in a patient with constitutional trisomy 8 mosaicism and myelodysplastic syndrome. Pediatr Hematol Oncol. 2004;21:209-221.
12. Dror Y, Grunebaum E, Hitzler J, et al. Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology. Pediatr Res. 2004;55:472-477.
13. Aiuti A, Slavin S, Aker M, et al. Correction of ADA-SCID by stem cell gene therapy combined with nonmyeloablative conditioning. Science. 2002;296:2410-2413.
14. Gaspar HB, Bjorkegren E, Parsley K, et al. Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning. Mol Ther. 2006;14:505-513.