Hematopoietic stem cell transplantation of an adolescent with neurological manifestations of homozygous missense PRF1 mutation.

Individuals with biallelic truncating PRF1 mutations typically present with fulminant early-onset familial hemophagocytic lymphohistiocytosis (FHL). We report a 19-year-old male with a 5-year history of recurrent fever and headaches progressing to refractory seizures. Brain imaging revealed multiple ring enhancing lesions.

Allogeneic hematopoietic stem cell transplantation for infants with idiopathic myelofibrosis.

IMF is a rare disease in children that can present during infancy and has a protracted course. The only known curative approach for this disease in adult patients is allogeneic HSCT. There are very few reports describing the long-term outcome of young children following stem cell transplantation for IMF.