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Blood, 15 April 2007, Vol. 109, No. 8, pp. 3595-3602.
Prepublished online as a Blood First Edition Paper on December 21, 2006; DOI 10.1182/blood-2006-07-034678.
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Submitted July 14, 2006
Accepted November 13, 2006
Patients with Adenosine Deaminase Deficiency surviving after hematopoietic stem cell transplantation are at high risk of CNS complications
Manfred Honig, Michael H Albert, Ansgar Schulz, Monika Sparber-Sauer, Catharina Schutz, Bernd Belohradsky, Tayfun Gungor, Markus T Rojewski, Harald Bode, Ulrich Pannicke, Dominique Lippold, Klaus Schwarz, Klaus-Michael Debatin, Michael S Hershfield, and Wilhelm Friedrich*
Department of Pediatrics, University of Ulm, Ulm, Germany
Dr. von Haunersches Kinderspital, Ludwig Maximilians University Munich, Munich, Germany
Division of Immunology/Hematology/BMT, University Children's Hospital, Zurich, Switzerland
Institute for Clinical Transfusion Medicine & Immunogenetics, & Institute of Transfusion Medicine, University Hospital of Ulm, Ulm, Germany
Duke Medical Center, Duke University, Durham, NC, United States
* Corresponding author; email: wilhelm.friedrich{at}medizin.uni-ulm.de.
Adenosine deaminase (ADA) deficiency is a systemic metabolic disease which causes an autosomal recessive variant of severe combined immunodeficiency (SCID) and less consistently other complications including neurological abnormalities. Hematopoietic stem cell transplantation (HSCT) is capable to correct the immunodeficiency, whereas control of non-immunological complications has not been extensively explored. We applied HSCT in 15 ADA deficient patients consecutively treated at our institutions since 1982 and analyzed long term outcome. Seven patients received transplants without conditioning from HLA-matched family donors (MFD), the other 8 patients received conditioning and were transplanted either from HLA-mismatched family donors (MMFD) (n=6) or from matched unrelated donors (MUD) (n=2). At a mean follow-up period of 12 years (range: 4 to 22 years), 12 patients are alive with stable and complete immune reconstitution (7/7 after MFD, 4/6 after MMFD and 1/2 after MUD transplantation). Six of 12 surviving patients show marked neurological abnormalities, which include mental retardation, motor dysfunction and sensorineural hearing deficit. We were unable to identify disease or transplant related factors correlating with this divergent neurological outcome. The high rate of neurological abnormalities observed in long-term surviving patients with ADA-deficiency indicates that HSCT commonly fails to control CNS complications in this metabolic disease.
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