Frequent somatic mutations of KMT 2D ( MLL 2 ) and CARD 11 genes in primary cold agglutinin disease
نویسندگان
چکیده
منابع مشابه
Cold agglutinin disease.
Cold agglutinin disease is a rare and poorly understood disorder affecting 15% of patients with autoimmune hemolytic anemia. We reviewed the clinical and pathologic features, prognosis, and management in the literature and describe our institutional experience to improve strategies for accurate diagnosis and treatment. Retrospective analysis identified 89 patients from our institution with cold...
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INTRODUCTION Autoimmune haemolytic anemia (AIHA) is a complex process characterized by an immune reaction against red blood cell self-antigens. The analysis of specimens, drawn from patients with cold auto-immune hemolytic anemia is a difficult problem for automated hematology analyzer. This paper was written to alert technologists and pathologists to the presence of cold agglutinins and its ef...
متن کاملHow I manage cold agglutinin disease.
Primary chronic cold agglutinin disease (CAD) is a clonal lymphoproliferative disorder accounting for 13-15% of autoimmune haemolytic anaemias. Significant advances have been made in treatment, which was largely unsuccessful until recently. The essential clinical, immunological and pathological features are reviewed, focusing on their relevance for therapy. Non-pharmacological management still ...
متن کاملTransient cold agglutinin disease with mycoplasma infection.
Cold agglutinins are autoantibodies and are often present in the sera of healthy individuals. They assume importance when the thermal reactivity of these antibodies approaches body temperature. This communication describes a case of cold hemagglutinin disease with Mycoplasma pneumoniae infection detected during routine laboratory investigations. The patient was managed conservatively.
متن کاملPrimary Hyperaldosteronism Somatic Mutations Affecting the Selectivity Filter of KCNJ5 Are Frequent in 2 Large Unselected Collections of Adrenal Aldosteronomas
Primary hyperaldosteronism, one cause of which is aldosterone-producing adenomas (APAs), may account for 5% to 10% of cases of essential hypertension. Germline mutations have been identified in 2 rare familial forms of primary hyperaldosteronism, but it has been reported recently that somatic mutations of the KCNJ5 gene, which encodes a potassium channel, are present in some sporadic nonsyndrom...
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ژورنال
عنوان ژورنال: British Journal of Haematology
سال: 2017
ISSN: 0007-1048,1365-2141
DOI: 10.1111/bjh.15063