Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation.
This report describes a child with a severe phenotype of autoimmune lymphoproliferative syndrome (ALPS) who developed progressive disease requiring stem cell transplantation. This severe form of ALPS was associated with a novel Fas gene splice site mutation that resulted in functional deletion of exons 8 and 9. While this child shared many clinical features with previously described ALPS cases, including massive lymphadenopathy and circulating alphabeta+ CD3+CD4-CD8-T cells, his disease progressed despite immunosuppressive therapy to a clinically aggressive oligoclonal lymphoproliferation which resembled a diffuse large cell non-Hodgkin's lymphoma. After partial remission was achieved with cytotoxic therapy the patient underwent BMT from an unrelated donor. This is the first reported case of ALPS in which BMT was successfully attempted for correction of a Fas deficiency.
Sleight
B J
BJ
Department of Pediatrics, Children's Hospital Medical Center, Cincinnati, OH, USA.
Prasad
V S
VS
DeLaat
C
C
Steele
P
P
Ballard
E
E
Arceci
R J
RJ
Sidman
C L
CL
D017398:Alternative Splicing / Q000235:genetics; D000595:Amino Acid Sequence; D001327:Autoimmune Diseases / Q000235:genetics / Q000628:therapy*; D001483:Base Sequence; D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D006801:Humans; D008232:Lymphoproliferative Disorders / Q000235:genetics / Q000628:therapy*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016896:Treatment Outcome; D019014:fas Receptor / Q000737:chemistry / Q000235:genetics
D019014:fas Receptor