Successful hematopoietic cell transplantation utilizing myeloablative reduced-toxicity conditioning in Chediak-Higashi syndrome

Chediak-Higashi syndrome (CHS) is a uncommon autosomal recessive dysfunction of CHS1/lysosomal trafficking regulator genes; it’s characterised by a danger of bleeding, infections, and progressive neurologic deficits. Defects of T-cell and pure killer cell cytotoxicity make sufferers with CHS vulnerable to hemophagocytic lymphohistiocytosis (HLH) after viral infections equivalent to EBV.1 This “accelerated part” happens in additional than 80% of sufferers with CHS, normally earlier than the second decade of life, and it’s extremely deadly.

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