Congenital Thrombotic Thrombocytopenic Purpura: A Rare Cause of Recurrent Thrombocytopenia and Anemia.

Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare autosomal recessive microangiopathic disorder caused by inherited mutations in the ADAMTS13 gene. cTTP treatment involves infusing ADAMTS13-rich blood products like fresh frozen plasma (FFP) to replenish levels and prevent disease relapses. Alternative therapies like recombinant ADAMTS13, plasma-derived Factor VIII, or caplacizumab may be used for patients unable to tolerate FFP.

Hematopoietic stem cell transplantation in children with Griscelli syndrome type 2: a single-center report on 35 patients.

In 2010, we reported the outcome of hematopoietic stem cell transplantation (HSCT) in 11 children with Griscelli syndrome type 2 (GS2). We report here the update on this cohort to include 35 patients. Twenty-seven (77%) patients received conditioning regimen including busulfan, cyclophosphamide with etoposide.