Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Target Concepts:
Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Query: EC:2.1.1.69 (
BMT
)
2,655
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
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.
...
PMID:Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation. 972 73
