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Autosomal Recessive Agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan
Clinical Immunology ( IF 8.6 ) Pub Date : 2018-07-29 , DOI: 10.1016/j.clim.2018.07.016
Sonia Qureshi , Muhammad Dawood Amir Sheikh , Farah Naz Qamar

Autosomal Recessive Agammaglobulinemia (ARA) is an uncommon type of primary immunodeficiency characterized by mutations in genes responsible for early B cell differentiation and function. One such gene is the TCF3 gene, which encodes a transcription factor important for immunoglobulin gene expression. We present the case of a 9 year old girl with history of diarrhea and recurrent pneumonias. Laboratory investigation showed significantly reduced levels of immunoglobulins along with a significant fall in the number of CD19+ cells. Genetic analysis identified a TCF3 gene base deletion covering exons 5–11.



中文翻译:

常染色体隐性遗传球蛋白血症-巴基斯坦新的TCF3突变的第一例

常染色体隐性血球蛋白血症(ARA)是一种罕见的原发性免疫缺陷,其特征在于负责早期B细胞分化和功能的基因突变。一种这样的基因是TCF3基因,其编码对于免疫球蛋白基因表达重要的转录因子。我们介绍了一个有腹泻和复发性肺炎病史的9岁女孩的病例。实验室研究表明,免疫球蛋白水平显着降低,而CD19 +细胞数量显着下降。遗传分析确定了TCF3基因碱基的缺失,覆盖第5-11号外显子。

更新日期:2018-07-29
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