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

Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report. Research Abstract Details 

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

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

A patient with adenosine deaminase-deficient severe combined immune deficiency (ADA-SCID) was enrolled in a study of retroviral-mediated ADA gene transfer to bone marrow hematopoietic stem cells. After the discontinuation of ADA enzyme replacement, busulfan (75 mg/m2) was administered for bone marrow cytoreduction, followed by infusion of autologous, gene-modified CD34+ cells. The expected myelosuppression developed after busulfan but then persisted, necessitating the administration of untransduced autologous bone marrow back-up at day 40. Because of sustained pancytopenia and negligible gene marking, diagnostic bone marrow biopsy and aspirate were performed at day 88. Analyses revealed hypocellular marrow and, unexpectedly, evidence of trisomy 8 in 21.6% of cells. Trisomy 8 mosaicism (T8M) was subsequently diagnosed by retrospective analysis of a pretreatment marrow sample that might have caused the lack of hematopoietic reconstitution. The confounding effects of this preexisting marrow cytogenetic abnormality on the response to gene transfer highlights another challenge of gene therapy with the use of autologous hematopoietic stem cells.

Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report. Publishing Authors By Initials

BC Engel,GM Podsakoff,JL Ireland,EM Smogorzewska,DA Carbonaro,K Wilson,A Shah,N Kapoor,M Sweeney,M Borchert,GM Crooks,KI Weinberg,R Parkman,HM Rosenblatt,SQ Wu,MS Hershfield,F Candotti,DB Kohn,

For similar pathological conditions, signs and symptoms: pathologic processes: chromosome aberrations: aneuploidy: trisomy research abstracts see: pathological conditions, signs and symptoms: pathologic processes: chromosome aberrations: aneuploidy: trisomy research

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

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Blood

VOLUME: 109

Page Numbers: 503-6

Journal Abbreviation: Blood

ISSN: 0006-4971

DAY: 14

MONTH: 09

YEAR: 2006

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

Number of References:

LANGUAGE: eng

NlmUniqueID: 7603509

Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report. Keywords Mesh Terms:

KEYWORDS: Trisomy

MESH TERMS: therapy

Chemical & Substance for Abstract: Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report. Information

Substance Name: Adenosine Deaminase

Registry Number: EC 3.5.4.4

Grant and Affiliation Information for Prolonged pancytopenia in a gene therapy patient with ADA-deficient SCID and trisomy 8 mosaicism: a case report.

AFFILIATION: Division of Research Immunology/Bone Marrow Transplantation, General Clinical Research Center, Department of Pathology, Children's Hospital Los Angeles, CA 90027, and Baylor College of Medicine, Houston, TX, USA.

Country: United States

AGENCY: United States NCRR

GRANT: M01 RR-43

ACRONYM: RR

MEDLINETA: Blood

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