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Blood, 1 February 2004, Vol. 103, No. 3, pp. 1152-1157.
Prepublished online as a Blood First Edition Paper on October 2, 2003; DOI 10.1182/blood-2003-06-2014.
Submitted June 25, 2003
Accepted September 25, 2003
Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002
Andrew R Gennery*, Khulood Khawaja, Paul Veys, Robbert G M Bredius, Luigi D Notarangelo, Evelina Mazzolari, Alain Fischer, Paul Landais, Marina Cavazzana-Calvo, Wilhelm Friedrich, Anders Fasth, Nico M Wulffraat, Susanne Matthes-Martin, D Bensoussan, P Bordigoni, Andrzej Lange, A Pagliuca, Marino Andolina, Andrew J Cant, and E G Davies
Pediatric Immunology, Newcastle General Hospital, Newcastle-upon-Tyne, United Kingdom
Pediatric Immunology, Great Ormond Street Hospital, London, United Kingdom
Leiden University Medical Centre, Leiden, The Netherlands
University of Brescia, Brescia, Italy
Necker Hospital, Paris, France
University Childrens Hospital, Ulm, Germany
Goteborg University, Goteborg, Sweden
The Wilhelmina Childrens Hospital, Utrecht, The Netherlands
St Anna Children's Hospital, Vienna, Austria
The Childrens Hospital, Vandoeuvre-Les-Nancy, France
Lower Silesian Center for Cellular Transplantation, Wroclaw, Poland
Kings College Hospital, London, United Kingdom
Pediatric Clinic, IRCCS Burlo Garofolo, Trieste, Italy
* Corresponding author; email: A.R.Gennery{at}ncl.ac.uk.
CD40 ligand (CD40L) deficiency causes recurrent sinopulmonary infection, Pneumocystis carinii pneumonia and Cryptosporidium parvum infection. 40-50% of patients survive to the third decade: long-term survival is unclear. Haemopoeitic stem cell transplantation (HSCT) is curative. We present a retrospective analysis of 38 European patients undergoing HSCT for CD40L deficiency in 8 European countries between 1993-2002. Donor stem cell source included 14 HLA-identical sibling, 22 unrelated donor and 2 phenotypically-matched parental stem cells (12 T-cell depleted). Thirty four patients engrafted, 26 (68%) survived. Three had autologous reconstitution, 22 (58%) were cured, 1 engrafted but has poor T-cell immune reconstitution. Eighteen evaluated patients responded to vaccination. Twelve (32%) died from infection-related complications, severe cryptosporidiosis in 6. Grade 2-4 GvHD associated with infection occurred in 6/12 fatal cases. HSCT cured 58% of patients, 72% of those without hepatic disease. Early T-cell function following whole marrow HSCT may limit cryptosporidial disease, but survival was similar after T-cell depleted HSCT. Pre-existing lung damage was the most important adverse risk factor. Further studies will determine optimal timing and type of HSCT.
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