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Treatment for CD57-negativeγδT-cell large granular lymphocytic leukemia with pure red cell aplasia:A case report
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作者 Ping-Ping Xiao Xu-Yan Chen +4 位作者 Zhi-Gao Dong Jin-Mei Huang Qing-Qing Wang Yong-Quan Chen Yi Zhang 《World Journal of Clinical Cases》 SCIE 2021年第26期7818-7824,共7页
BACKGROUND T-cell large granular lymphocytic leukemia(T-LGLL)is a rare type of aplastic anemia with diverse clinical manifestations.Concomitant diseases are often present at the first manifestation.We describe the tre... BACKGROUND T-cell large granular lymphocytic leukemia(T-LGLL)is a rare type of aplastic anemia with diverse clinical manifestations.Concomitant diseases are often present at the first manifestation.We describe the treatment of a patient with CD57-negativeγδT-LGLL with pure red cell aplasia(PRCA).CASE SUMMARY A 34-year-old woman with a 20-year history of anemia visited our hospital owing to severe dizziness and was admitted.Her condition was diagnosed as CD57-negativeγδT-LGLL with PRCA through bone marrow cytology,bone marrow pathology,bone marrow flow cytometry,bone marrow multiplex polymerase chain reaction combined with fluorescent fragment analysis,and other tests.Treatment with prednisone,methotrexate,and subcutaneous erythropoietin did not significantly change her hemoglobin level.After treatment with oral cyclophosphamide for 3 mo,her hemoglobin level increased to approximately 100 g/L.After 5 mo of treatment,the patient could perform activities of daily living independently.CONCLUSION The treatment of CD57-negativeγδT-LGLL with PRCA with cyclophosphamide helps to improve prognosis. 展开更多
关键词 large granular lymphocytic leukemia Pure red cell aplasia Aplastic anemia γδT-cell CYCLOPHOSPHAMIDE Case report
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The novel SLC40A1(T419I)variant results in a loss-of-function phenotype and may provide insights into the mechanism of large granular lymphocytic leukemia and pure red cell aplasia 被引量:1
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作者 Hongfei Wu Xiang Ren +14 位作者 Meili Ge Peiyuan Dong Shichong Wang Huiming Yi Xingxin Li Jiali Huo Xuan Zheng Mengying Gao Jinbo Huang Jing Zhang Min Wang Peng Jin Neng Nie Yingqi Shao Yizhou Zheng 《Blood Science》 2022年第1期29-37,共9页
Variants in the solute carrier family 40 member 1(SLC40A1)gene are the molecular basis of ferroportin disease,which is an autosomal dominant hereditary hemochromatosis.Here,we present a patient with pure red cell apla... Variants in the solute carrier family 40 member 1(SLC40A1)gene are the molecular basis of ferroportin disease,which is an autosomal dominant hereditary hemochromatosis.Here,we present a patient with pure red cell aplasia(PRCA)and large granular lymphocytic leukemia(LGLL)associated with an extremely high levels of serum ferritin and iron overload syndrome.Whole exon sequencing revealed a novel heterozygous variant in SLC40A1(p.T419I),which was found in his daughter as well.A series of functional studies in vitro of the T419I variant in ferroportin were conducted and the results revealed a reduced capacity of iron export from cells without changes in protein localization and its sensitivity to hepcidin.Intracellular iron storage in mutated cells was significantly higher than that of wild-type.These findings suggest that the novel variant p.T419I can cause the classical form of ferroportin disease and an elevated intracellular iron level indicates a potential novel pathogenic mechanism underlying PRCA and LGLL. 展开更多
关键词 Ferroportin disease Iron overload large granular lymphocytic leukemia Pure red cell aplasia SLC40A1 variant
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