Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.1.1.69 (BMT)
 2,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Haemophagocytic lymphohistiocytosis (HLH) is a rare disorder of inappropriate macrophage activation. Both familial and sporadic forms, which may be infection-associated, are recognized. Between 1985 and 1991 we treated 23 cases of HLH (12 male, 11 female). There were eight familial cases, defined by a previously affected sibling and/or history of consanguinity, age 3 d to 15 months at presentation. The age of the remaining 15 cases varied from 1 month to 9.5 years. A potential viral trigger was identified in four cases (EBV, two; parvovirus B19, one; echovirus II, one) including one familial case. Six of eight (75%) patients who received supportive care alone, including all four familial cases, died within 6 months of presentation. Both long-term survivors in this group presented at an older age (7.5 and 8 years) and had proven or suspected virus-associated HLH. 15 patients were treated with etoposide (150-250 mg/m2 days 1-3 every 21 d) and methylprednisolone; 10 patients received intrathecal methotrexate in addition. In nine (60%) of these cases a complete (six) or partial (three) response was achieved, though one child suffered a fatal 'tumour lysis' syndrome. Overall mortality in the treated group was 66.6%, being highest (75%) in patients under 2 years at presentation compared to 33% in those over 2 years. Two of three familial and one of five sporadic cases relapsed and died 3 d to 20 months from diagnosis. Only one familial case survives at follow-up of 11 months. Of the five remaining survivors, two received allogeneic bone marrow transplantation (one matched related, one haploidentical) and are alive at 11 and 29 months. Three cases aged 2.5, 7.5 and 9.5 years remain in remission at 11, 20 and 25 months respectively. The high mortality of HLH supports a role for allogeneic BMT in selected cases, particularly those with a familial basis or under 2 years at presentation.
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PMID:Haemophagocytic lymphohistiocytosis: experience at two U.K. centres. 781 97

A four year-old-girl with Diamond-Blackfan anemia (DBA) that was resistant to corticosteroid treatment and transfusion dependent underwent (bone marrow transplantation) BMT from HLA identical sibling. The patient was conditioned with busulfan and cyclophosphamide and achieved complete marrow engraftment and mixed chimerism in DNA analysis. For the following 13 months she was not transfusion dependent and had a 100% Karnofsky score. But on the 14th month she had anemia ollowing fever, rash and enteritis. Parvovirus B19 IgM seropositivity confirmed Parvovirus infection. Although intravenous immunoglobulin was administered, bone marrow morphology and DNA analysis revealed rejection. Although mixed chimerism detected shortly after the BMT procedure might raise the possibility of an ongoing slow graft rejection during the relatively stable remission period, we think that parvovirus B19 had also contributed rejection.
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PMID:Could Parvovirus B19 Induce a Rejection After Bone Marrow Transplantation in a Patient with Diamond-Blackfan Anemia? 2726 5