Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002

CD40 ligand (CD40L) deficiency causes recurrent sinopulmonary infection, Pneumocystis carinii pneumonia, and Cryptosporidium parvum infection. Approximately 40% to 50% of patients survive to the third decade: long-term survival is unclear. Hematopoietic 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 and 2002. Donor stem cell source included 14 HLA-identical siblings, 22 unrelated donors, and 2 phenotypically matched parental stem cells (12 T-cell depleted). Of the patients, 34 engrafted and 26 (68%) survived; 3 had autologous reconstitution, 22 (58%) were cured, and 1 engrafted but has poor T-cell immune reconstitution. There were 18 evaluated patients who responded to vaccination. Of the patients, 12 (32%) died from infection-related complications, with severe cryptosporidiosis in 6. Grades 2 to 4 graft-versus-host disease (GvHD) associated with infection occurred in 6 of 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. Preexisting lung damage was the most important adverse risk factor. Further studies will determine optimal timing and type of HSCT.

Khawaja, K. (author)
Veys, P. (author)
Bredius, R. G. (author)
Notarangelo, L. D. (author)
Mazzolari, E. (author)
Fischer, A. (author)
Landais, P. (author)
Cavazzana-Calvo, M. (author)
Friedrich, W. (author)
Fasth, Anders,1945Gothenburg University,Göteborgs universitet,Institutionen för kvinnors och barns hälsa, Avdelningen för pediatrik,Institute for the Health of Women and Children, Dept of Paediatrics(Swepub:gu)xfasan (author)
Wulffraat, N. M. (author)
Matthes-Martin, S. (author)
Bensoussan, D. (author)
Bordigoni, P. (author)
Lange, A. (author)
Pagliuca, A. (author)
Andolina, M. (author)
Cant, A. J. (author)
Davies, E. G. (author)
Göteborgs universitetInstitutionen för kvinnors och barns hälsa, Avdelningen för pediatrik (creator_code:org_t)

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