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.