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)

Omenn's syndrome is a rare inherited variant of SCID. It is inevitably fatal, unless treated by bone marrow or stem cell transplantation. However, treatment-related complications and graft rejection are major obstacles to the success of transplantation. In this report, we describe an eight-month-old baby with Omenn's syndrome and disseminated BCGosis, who underwent allogenic BMT from his HLA-matched sister using anti-GVHD prophylaxis but without a conditioning regimen. Ten days after BMT, he developed acute GVHD involving the skin only (grade 1) with a flare of local BCGosis. Engraftment of 55% was demonstrated by FISH as early as the 11th day post-BMT. On day +48 post-BMT, he developed GVHD that was complicated by refractory pancytopenia, resistant to three doses of rituximab. Patient was re-transplanted (from the same donor) after receiving fludarabine and ATG, with successful engraftment and complete recovery from pancytopenia.
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PMID:Successful second bone marrow transplantation in Omenn's syndrome after bone marrow aplasia: a case report. 2110 10

Objective and Importance. Cyclic neutropenia (CyN) is a rare autosomal dominant inherited disorder due to the mutation ELANE primarily affecting bone marrow stem cells and is characterized by recurrent neutropenia every 2 to 4 weeks. Symptoms vary from benign to severe, including death. Postulations on the cause of wide spectrum in symptom presentation include the possibility of other genetic mutations, such as MEFV. Recommended treatment for CyN is G-CSF to keep ANC higher to minimize risk of infection. Case. A 25-year-old male diagnosed with CyN, on G-CSF but worsening quality of life. Pretransplant investigations revealed ELANE mutation positive severe CyN along with familial Mediterranean fever (MEFV) mutation. Intervention. Bone marrow transplantation as treatment for dual mutation (ELANE and MEFV mutation) positive severe CyN. Conclusion. BMT may be considered as an alternative treatment for severe CyN in patients who are refractory to G-CSF. It is postulated that in our patient the combined mutations (CyN and MEFV) may have contributed to the severity of this individual's symptoms. We suggest CyN patients who present with severe symptoms have evaluation with ELANE mutation testing, Periodic Fever Syndromes Panel, and routine marrow assessment with FISH, conventional cytogenetics, and morphological evaluation for MDS/AML.
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PMID:Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events. 2819 46


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