Outcomes of Hematopoietic Cell Transplantation in Patients with Germline SAMD9/SAMD9L Mutations
Sign Up to like & getrecommendations! Published in 2019 at "Biology of Blood and Marrow Transplantation"
DOI: 10.1016/j.bbmt.2019.07.007
Abstract: ABSTRACT Germline mutations in SAMD9 and SAMD9L genes cause MIRAGE (myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy) (OMIM: *610456) and ataxia-pancytopenia (OMIM: *611170) syndromes, respectively, and are associated with chromosome 7… read more here.
Keywords: cell transplantation; hematopoietic cell; transplantation; samd9 samd9l ... See more keywords
Cord Blood Transplantation in 2 Infants Presenting Monosomy 7 Clonal Hematopoiesis; SAMD9/SAMD9L Germline Mutation.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of pediatric hematology/oncology"
DOI: 10.1097/mph.0000000000002578
Abstract: Recently, germline mutations in SAMD9 and SAMD9L were increasingly found in children with monosomy 7. We report the outcomes in 2 infants with the SAMD9/SAMD9L variant, who presented with anemia and thrombocytopenia (patient 1), and… read more here.
Keywords: blood transplantation; samd9 samd9l; cord blood;
Germline SAMD9 and SAMD9L mutations are associated with extensive genetic evolution and diverse hematologic outcomes.
Sign Up to like & getrecommendations! Published in 2018 at "JCI insight"
DOI: 10.1172/jci.insight.121086
Abstract: Germline SAMD9 and SAMD9L mutations cause a spectrum of multisystem disorders that carry a markedly increased risk of developing myeloid malignancies with somatic monosomy 7. Here, we describe 16 siblings, the majority of which were… read more here.
Keywords: samd9; germline samd9; mutations associated; samd9 samd9l ... See more keywords