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Story
Taif Mahmud Tamim Mia, 8 years, male, initially he presented in 2014 with hepatospleenomegaly, fever, jaundice. His bone marrow and other investigations suggested Haemophagocytic Lymphohistiocytosis.
He was treated with steroids cyclosporin but relapsed once the immunosupressants were stopped. We then did a gene expresson profile which suggested a homozygous STXBP2 positive (MUNC gene) mutation. He is now an immunosupressants and the only way to cure this child is to do on allogenic stem cell transplant.
He was treated with steroids cyclosporin but relapsed once the immunosupressants were stopped. We then did a gene expresson profile which suggested a homozygous STXBP2 positive (MUNC gene) mutation. He is now an immunosupressants and the only way to cure this child is to do on allogenic stem cell transplant.
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Beneficiary:
Taif Mahmud Tam...
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