T-cell-depleted hematopoietic SCT from unrelated donors for the treatment of congenital amegakaryocytic thrombocytopenia
نویسندگان
چکیده
منابع مشابه
Congenital Amegakaryocytic Thrombocytopenia: A Brief Review of the Literature
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited autosomal recessive disorder that presents with thrombocytopenia and absence of megakaryocytes. It presents with bleeding recognized on day 1 of life or at least within the first month. The cause for this disorder appears to be a mutation in the gene for the thrombopoeitin (TPO) receptor, c-Mpl, despite high levels of serum ...
متن کاملc-mpl mutations are the cause of congenital amegakaryocytic thrombocytopenia.
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disease presenting with isolated thrombocytopenia in infancy and developing into a pancytopenia in later childhood. Thrombopoietin (TPO) is the main regulator of thrombocytopoiesis and has also been demonstrated to be an important factor in early hematopoiesis. We analyzed 9 patients with CAMT for defects in TPO production and reactiv...
متن کاملCongenital amegakaryocytic thrombocytopenia iPS cells exhibit defective MPL-mediated signaling.
Congenital amegakaryocytic thrombocytopenia (CAMT) is caused by the loss of thrombopoietin receptor-mediated (MPL-mediated) signaling, which causes severe pancytopenia leading to bone marrow failure with onset of thrombocytopenia and anemia prior to leukopenia. Because Mpl(-/-) mice do not exhibit the human disease phenotype, we used an in vitro disease tracing system with induced pluripotent s...
متن کاملTransplantation of hematopoietic stem cells from unrelated volunteer donors.
Transplantation of hematopoietic stem cells from human leukocyte antigen (HLA)-compatible unrelated volunteer donors have become feasible for more than 70% of patients without a family match. Chronic myeloid leukemia is the most common indication for unrelated donor marrow transplantation. The 5year survival for patients up the age of 50 years has improved to 75% with transplantation in the chr...
متن کاملThrombopoietin mutation in congenital amegakaryocytic thrombocytopenia treatable with romiplostim
Congenital amegakaryocytic thrombocytopenia (CAMT) is an inherited disorder characterized at birth by thrombocytopenia with reduced megakaryocytes, which evolves into generalized bone marrow aplasia during childhood. Although CAMT is genetically heterogeneous, mutations of MPL, the gene encoding for the receptor of thrombopoietin (THPO), are the only known disease-causing alterations. We identi...
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ژورنال
عنوان ژورنال: Bone Marrow Transplantation
سال: 2011
ISSN: 0268-3369,1476-5365
DOI: 10.1038/bmt.2011.142