Immune status of patients with inherited bone marrow failure syndromes
نویسندگان
چکیده
منابع مشابه
Inherited bone marrow failure syndromes: molecular features.
Recent advances resulting from the identification of the genes responsible for four inherited marrow failure syndromes, Fanconi anemia, dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome, are reviewed. The interpretation of genetic testing should be guided by an understanding of the limitations of such testing for each disorder. The possibility of an inherited basis...
متن کاملThe inherited bone marrow failure syndromes.
Molecular pathogenesis may be elucidated for inherited bone marrow failure syndromes (IBMFS). The study and presentation of the details of their molecular biology and biochemistry is warranted for appropriate diagnosis and management of afflicted patients and to identify the physiology of the normal hematopoiesis and mechanisms of carcinogenesis. Several themes have emerged within each subsecti...
متن کاملImmune-mediated bone marrow failure syndromes and cytopenias Pathophysiology of immune mediated bone marrow failure
The unique structure of the T cell receptor (TCR) enables molecular identification of individual T cell clones and provides an unique opportunity for the design of molecular diagnostic tests based on the structure of the rearranged TCR chain e.g., using the TCR CDR3 region. Initially, clonal T cell malignancies, including T cell large granular lymphocyte leukemia (T-LGL), mucosis fungoides and ...
متن کاملGenetic Basis of Inherited Bone Marrow Failure Syndromes
Inherited bone marrow failure syndromes (IBMFSs) are multi-system disorders with varying degrees of defective production of erythrocytes, granulocytes and platelets in the bone marrow, leading to single-lineage or multilineage cytopenia (Table 1).(Dror 2006) The term IBMFSs is reserved for disorders that are caused by mutations, which are either inherited from the parents or occurred de-novo.(A...
متن کاملDiagnosis, genetics, and management of inherited bone marrow failure syndromes.
The inherited bone marrow failure syndromes are traditionally considered to be pediatric disorders, but in fact, many of the patients now are diagnosed as adults, and many diagnosed as children now live to reach adulthood. The most common of these rare disorders include Fanconi anemia, dyskeratosis congenita, Shwachman-Diamond syndrome and amegakaryocytic thrombocytopenia, which often develop a...
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ژورنال
عنوان ژورنال: American Journal of Hematology
سال: 2015
ISSN: 0361-8609
DOI: 10.1002/ajh.24046