ESPE Abstracts

Background: As a curative therapy, haematopoietic stem cells transplantation (HSCT) has been also used for patients with non-neoplastic diseases such as aplastic anemia, primary immunodeficiency, and some congenital metabolic diseases. For these diseases, the intensity of the conditioning has been reduced comparing to that of malignancy diseases. Therefore, late effects of HSCT for non-neoplastic diseases has been expected to be milder than that for neoplastic diseases, howeve...

MIRAGE syndrome is characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes and enteropathy. It was established in 2016 as a new syndromic disorder caused by a gain-of-function mutation in the SAMD9 gene, which encodes a protein that suppresses cell proliferation. Due to the poor life prognosis, there are few reports on the long-term survival. Therefore, we herein report the clinical course of a 24-year-old male patient...