Compound heterozygous c-Mpl mutations in a child with congenital amegakaryocytic thrombocytopenia: Functional characterization and a review of the literature
نویسندگان
چکیده
منابع مشابه
c-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 کاملScreening for c-mpl mutations in patients with congenital amegakaryocytic thrombocytopenia identifies a polymorphism.
a therapeutic approach to children and adolescents with AML that leads to cure half of the time,. .. irrespective of the presence of a. .. family donor. " 1(p61) It is true that the presented event-free survival estimates for both the allogeneic BMT and chemotherapy groups receiving intensively timed induction therapy exceeded 50% (66% and 53%, respectively); this statement is misleading, howev...
متن کامل[Identification of mutations in c-mpl gene in congenital amegakaryocytic thrombocytopenia].
Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder expressed in infancy and characterized by isolated thrombocytopenia and megakaryocytopenia with no physical anomalies. Our previous hematological analysis indicated similarities between human CAMT and murine c-mpl (thrombopoietin receptor) deficiency. Because the c-mpl gene was considered as one of the candidate genes for thi...
متن کاملCongenital 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 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...
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ژورنال
عنوان ژورنال: Experimental Hematology
سال: 2009
ISSN: 0301-472X
DOI: 10.1016/j.exphem.2009.01.001