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)
In this case report, we describe successful
BMT
with RIC in a patient with delayed-onset ADA deficiency. A three-yr-old Japanese boy was diagnosed with delayed-onset ADA deficiency because of recurrent
bronchitis
, bronchiectasia, and lymphopenia. In addition, autoimmune thyroiditis and neutropenia were present. At four yr of age, he underwent
BMT
with a RIC regimen, including busulfan and fludarabine, from an HLA-identical healthy sister. Engraftment after
BMT
was uneventful without GVHD. Decreased ADA levels in blood immediately increased following
BMT
, and the patient was disease-free 13 months after
BMT
. These results suggest that
BMT
with RIC may sufficiently restore immune regulation in delayed-onset ADA deficiency. A longer follow-up period is needed to confirm these observations.
...
PMID:Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed-onset adenosine deaminase deficiency. 2280 42
