Journal
PEDIATRIC BLOOD & CANCER
Volume 67, Issue 5, Pages -Publisher
WILEY
DOI: 10.1002/pbc.28187
Keywords
children; cure; hematopoietic stem cell transplantation; Mendelian susceptibility to mycobacterial diseases
Categories
Funding
- Pediatric Critical Care Group
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We present our experience in the hematopoietic stem cell transplantation (HSCT) in two children diagnosed with Mendelian susceptibility to mycobacterial diseases. The first child underwent a haploidentical HSCT with posttransplant cyclophosphamide using a reduced intensity conditioning following which he had primary graft failure. He was subsequently found to have interferon-gamma 1 receptor deficiency. He had immune reconstitution and is on antitubercular therapy. The second child diagnosed with IL12RB1 gene mutation underwent matched sibling donor HSCT with myeloablative conditioning following pretransplant immunosuppression with fludarabine and dexamethasone. He is 13 months post-HSCT with complete and remains disease free.
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