Clonal Hematopoiesis and Acquired Thalassemia in Common Variable Immunodeficiency
Clonal Hematopoiesis and Acquired Thalassemia in Common Variable Immunodeficiency
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常见变异性免疫缺陷病中的克隆性造血和获得性地中海贫血
DOI：
10.1007/bf03403531
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发表时间：
1994
影响因子：
5.7
通讯作者：
J. Prchal
中科院分区：
文献类型：
--
作者：
M. Belickova;H. Schroeder;Y. Guan;Joseph Brierre;S. Berney;M. Cooper;J. Prchal
背景普通变异型免疫缺陷（CVID）是指低丙种球蛋白血症和对感染的易感性增加。负责CVID.MethodsDuring他们的CVID疾病的过程中，一名女性和三名男性患者发展为小红细胞性贫血的基因缺陷仍然未知。这种贫血的调查形式的基础上，本report.ResultsReticulocyte珠蛋白链合成的研究显示异常α/β比值是地中海贫血的特征。通过转录分析的葡萄糖-6-磷酸脱氢酶（G6 PD）位点的活性X-染色体在血细胞中，我们确定，女性患者有克隆网织红细胞，血小板，粒细胞，和B和T lymphocyte.ConclusionsThe同时存在的珠蛋白合成异常和泛低丙种球蛋白血症表明，一个共同的侮辱在干细胞水平可能有助于CVID和获得性地中海贫血的发展。
BackgroundCommon variable immunodeficiency (CVID) is defined by hypogammaglobulinemia and increased susceptibility to infections. The gene defect responsible for CVID remains unknown.MethodsDuring the course of their CVID disease, a female and three male patients developed microcytic anemia. The investigation of this anemia forms the basis for this report.ResultsReticulocyte globin chain synthesis studies revealed the abnormal α/β ratios that are pathognomonic of thalassemia. Through transcriptional analysis of the glucose-6-phosphate-dehydrogenase (G6PD) locus of the active X-chromosome in blood cells, we determined that the female patient has clonal reticulocytes, platelets, granulocytes, and B and T lymphocytes.ConclusionsThe simultaneous presence of globin synthesis abnormalities and panhypogammaglobulinemia suggests that a common insult at the stem cell level could contribute to the development of CVID and acquired thalassemia.
主要组织相容性复合物 III 类基因以及对免疫球蛋白 A 缺陷和常见变异型免疫缺陷的易感性。
DOI：
10.1172/jci115797
发表时间：
1992
期刊：
The Journal of clinical investigation
影响因子：
--
作者：
Volanakis,JE;Zhu,ZB;Schaffer,FM;Macon,KJ;Palermos,J;Barger,BO;Go,R;Campbell,RD;SchroederJr,HW;Cooper,MD
通讯作者：
Cooper,MD
白血病前期的获得性α-地中海贫血是由于所有四种α-珠蛋白基因表达下降所致。
DOI：
10.1073/pnas.80.19.6051
发表时间：
1983
影响因子：
11.1
作者：
Anagnou,NP;Ley,TJ;Chesbro,B;Wright,G;Kitchens,C;Liebhaber,S;Nienhuis,AW;Deisseroth,AB
通讯作者：
Deisseroth,AB