Nature

Stem cell transplantation in children with infantile osteopetrosis is associated with a high incidence of VOD, which could be prevented with defibrotide

Malignant infantile osteopetrosis (MIOP) is a rare hereditary disorder of osteoclast function, which can be reversed by hematopoietic stem cell transplantation (SCT). We observed a high incidence of ...
PharmiWeb

Malignant Infantile Osteopetrosis: A Rare but Severe Genetic Disorder

Malignant Infantile Osteopetrosis (MIOP) is a rare genetic disorder causing excessive bone density, leading to brittle bones, bone marrow failure, and neurological issues. It results from mutations in ...
Nature

Haploidentical transplantation with post-transplant cyclophosphamide following reduced-intensity conditioning for osteopetrosis: outcomes in three children

Three consecutive children with MIOP, all with recessive TCIRG1 genotypes, presented to our institution without HLA-matched sibling donors and were treated by the Haplo-PTCy strategy in 2014–2015. In ...