Mast-cell leukemia exome sequencing reveals a mutation in the IgE mast-cell receptor β chain and KIT V654A
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چکیده
منابع مشابه
Mast Cell Leukemia with Ascites and Multiple Organs Damage
Mast Cell Leukemia (MCL), a rare subtype of systemic mastocytosis is defined by bone marrow involvement as atypical and aleukemic mast cells, if more than 20% and less than 10% of peripheral WBCs are mast cells, respectively. We met a case of aleukemic MCL presenting with anemia and ascites for 2 years, referred for BM evaluation, suspicious of leukemia. Our findings included BM involveme...
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Background: Nephronophthisis (NPHP) is a progressive tubulointestinal kidney condition that demonstrates an AR inheritance pattern. Up to now, more than 20 various genes have been detected for NPHP, with NPHP1 as the first one detected. X-prolyl aminopeptidase 3 (XPNPEP3) mutation is related to NPHP-like 1 nephropathy and late onset NPHP. Methods: The proband (index patient) had polyuria, polyd...
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Mast cell leukemia (MCL) is a very rare form of aggressive systemic mastocytosis accounting for < 1% of all mastocytosis. It may appear de novo or secondary to previous mastocytosis and shares more clinicopathologic aspects with systemic mastocytosis than with acute myeloid leukemia. Symptoms of mast cell activation-involvement of the liver, spleen, peritoneum, bones, and marrow-are frequent. D...
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Piebaldism is an autosomal dominant genetic disorder characterized by cogenital patches of skin and hair from which melanocytes are completely absent. A similar disorder of mouse, dominant white spotting (W), results from mutations of the c-Kit protooncogene, which encodes and receptor for mast/stem cell growth factor. We identified a KIT gene mutation in a proband with classic autosomal domina...
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Some 10 years ago it emerged that at sufficiently high concentrations certain monoclonal mouse IgEs exert previously unsuspected effects on mast cells. Thus they can both promote survival and induce activation of mast cells without the requirement for antigens. This was a wake up call that appears to have been missed (or dismissed) by the majority of immunologists. The structural attributes res...
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ژورنال
عنوان ژورنال: Leukemia
سال: 2011
ISSN: 0887-6924,1476-5551
DOI: 10.1038/leu.2011.354