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

Blood

Volumn 118, Issue 10, 2011, Pages 2688-2694

  Sokolic, Robert ^a   Maric, Irina ^b   Kesserwan, Chimene ^a,c   Garabedian, Elizabeth ^a   Hanson, I Celine ^d   Dodds, Margaret ^d   Buckley, Rebecca ^e   Issekutz, Andrew C ^f   Kamani, Naynesh ^g   Shaw, Kit ^h   Tan, Ben ⁱ   Bali, Pawan ^e   Hershfield, Michael S ^e   Kohn, Donald B ^h   Wayne, Alan S ^c   Candotti, Fabio ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

^d TEXAS CHILDREN S HOSPITAL   (United States)

^e DUKE UNIVERSITY MEDICAL CENTER   (United States)

^f DALHOUSIE UNIVERSITY   (Canada)

^g GEORGE WASHINGTON UNIVERSITY   (United States)

^h UNIVERSITY OF CALIFORNIA   (United States)

ⁱ UNIVERSITY OF SASKATCHEWAN   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ACICLOVIR; ADENOSINE DEAMINASE; BUSULFAN; DIDEOXYNUCLEOTIDE; IMMUNOGLOBULIN; ITRACONAZOLE; PEGADEMASE; SULFAMETHOXAZOLE; TRIMETHOPRIM;

ADENOSINE DEAMINASE DEFICIENCY; ADOLESCENT; ADULT; ALLOGENEIC HEMATOPOIETIC STEM CELL TRANSPLANTATION; ARTICLE; BLOOD ANALYSIS; BONE MARROW DISEASE; BONE MARROW HYPOCELLULARITY; CHEMOTHERAPY; CHILD; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE ASSOCIATION; ENZYME REPLACEMENT; FEMALE; GENE THERAPY; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; MAJOR CLINICAL STUDY; MALE; MYELOID DYSPLASIA; MYELOPROLIFERATIVE DISORDER; NEUTROPENIA; NEUTROPHIL COUNT; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEVERE COMBINED IMMUNODEFICIENCY; STEM CELL;

EID: 80052657567     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2011-01-329359     Document Type: Article

References (17)

1. Hershfield M. Combined immune deficiencies due to purine enzyme defects. In: Stiehm ER, Ochs HD, Winkelstein JA, eds. Immunologic Disorders in Infants and Children. Philadelphia, PA: Elsevier Saunders; 2004:480-504.
2. Hirschhorn R, Candotti F. Immunodeficiency due to defects of purine metabolism. In: Ochs HD, Smith CIE, Puck JM, eds. Primary Immunodeficiency Diseases: A Molecular and Genetic Approach. New York, NY: Oxford University Press; 2007:169-196.
3. Albuquerque W, Gaspar HB. Bilateral sensorineural deafness in adenosine deaminasedeficient severe combined immunodeficiency. J Pediatr. 2004;144(2):278-280. (Pubitemid 38869409)
4. Honig M, Albert MH, Schulz A, et al. Patients with adenosine deaminase deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications. Blood. 2007;109(8):3595-3602. (Pubitemid 46572555)
5. Ratech H, Greco MA, Gallo G, Rimoin DL, Kamino H, Hirschhorn R. Pathologic findings in adenosine deaminase-deficient severe combined immunodeficiency: I. Kidney, adrenal, and chondro-osseous tissue alterations. Am J Pathol. 1985;120(1):157-169. (Pubitemid 15037983)
6. Bollinger ME, Arredondo-Vega FX, Santisteban I, Schwarz K, Hershfield MS, Lederman HM. Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency. N Engl J Med. 1996;334(21):1367-1371. (Pubitemid 26152716)
7. Titman P, Pink E, Skucek E, et al. Cognitive and behavioral abnormalities in children after hematopoietic stem cell transplantation for severe congenital immunodeficiencies. Blood. 2008;112(9):3907-3913.
8. Kesserwan C, Sokolic R, Cowen E, et al. Dermatofibrosarcoma protuberans (DFSP) in 6 patients with ADA-SCID. J Clin Oncol. 2009;27:553s.
9. Engel BC, Podsakoff GM, Ireland JL, et al. Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report. Blood. 2007;109(2):503-506. (Pubitemid 46105946)
10. Gaspar HB, Aiuti A, Porta F, Candotti F, Hershfield MS, Notarangelo LD. How I treat ADA deficiency. Blood. 2009;114(17):3524-3532.
11. Aiuti A, Cattaneo F, Galimberti S, et al. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med. 2009;360(5):447-458.
12. Sokolic R, Podsakoff G, Muul L, et al. Immune reconstitution after gene therapy (Gtx) for adenosine deaminase deficient severe combined immune deficiency (ADA-SCID). Biol Blood Marrow Transplant. 2009;15:27.
13. Hershfield MS, Kredich NM, Koller CA, et al. S-Adenosylhomocysteine catabolism and basis for acquired resistance during treatment of T-cell acute lymphoblastic leukemia with 2′-deoxycoformycin alone and in combination with 9-beta-D-arabinofuranosyladenine. Cancer Res. 1983;43(7):3451-3458. (Pubitemid 13061613)
14. Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS. Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles. Am J Hum Genet. 1998;63(4):1049-1059. (Pubitemid 30418574)
15. Hershfield MS. PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency. Hum Mutat. 1995;5(2):107-112.
16. Chan B, Wara D, Bastian J, et al. Long-term efficacy of enzyme replacement therapy for adenosine deaminase (ADA)-deficient severe combined immunodeficiency (SCID). Clin Immunol. 2005;117(2):133-143. (Pubitemid 41407723)
17. Brunning RD, Orazi A, Germing U, et al. Myelodysplastic syndromes. In: Swerdlow SH, Campo E, Harris NL, et al, eds. WHO Classification of Tumors of Haematopoietic and Lymphoid Tissues. Lyon, France: IARC; 2008:87-107.