Bone marrow transplantation for CD40 ligand deficiency: a single centre experience

Citation
K. Khawaja et al., Bone marrow transplantation for CD40 ligand deficiency: a single centre experience, ARCH DIS CH, 84(6), 2001, pp. 508-511
Citations number
21
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Pediatrics,"Medical Research General Topics
Journal title
ARCHIVES OF DISEASE IN CHILDHOOD
ISSN journal
0003-9888 → ACNP
Volume
84
Issue
6
Year of publication
2001
Pages
508 - 511
Database
ISI
SICI code
0003-9888(200106)84:6<508:BMTFCL>2.0.ZU;2-Q
Abstract
Background - CD40 ligand (CD40L) deficiency is a rare X linked immunodefici ency disorder leading to recurrent bacterial infection, with cryptosporidia l enteritis and subsequent hepatic cirrhosis. Bone marrow transplantation o ffers the only cure. Objective - To analyse retrospectively the outcome of bone marrow transplan tation for this condition in one centre. Design - A retrospective case note analysis was performed, identifying all patients with CD40L deficiency who had undergone bone marrow transplantatio n between May 1988 and December 2000. Details of pre-existing infection, pr etransplantation immunological and infective data, transplant procedure (pa rticularly donor type and HLA match), conditioning regimen, and marrow mani pulation were analysed. Post-transplantation data including infective episo des, engraftment details, immune function, complications, and outcome were recorded. Results-Fight boys (age 1-14 years, median 5.75) had transplants. Six recei ved T cell depleted unrelated donor marrow. Four survive and have normal im mune function. Six had previous Pneumocystis carinii pneumonia and three ha d histological liver damage. Survival was associated with younger age at tr ansplantation and normal liver histology. Conclusions - Bone marrow transplantation can be curative in CD40L deficien cy. Better outcome is associated with younger age at transplantation and no rmal liver histology.