Large BTK gene mutation in a child with X-linked agammaglobulinemia and polyarthritis

Dhrubajyoti Sharma; Aman Gupta; Shubham Goel; Madhubala Sharma; Amit Rawat; Surjit Singh

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Large BTK gene mutation in a child with X-linked agammaglobulinemia and polyarthritis

机译：具有X型激动的Agammaglobulinemia和多关节炎的儿童中的大BTK基因突变

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Highlights ? Polyarthritis as presenting feature in patients with XLA is extremely uncommon. ? A novel mutation in BTK gene is described. ? Regular replacement IVIG results in resolution of arthritis in patients with XLA.

机译：强调？多关节炎作为XLA患者的呈现特征非常罕见。还描述了BTK基因的一种新突变。还定期替代IVIG导致XLA患者关节炎的分辨率。

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《Clinical immunology: The official journal of the Clinical Immunology Society》 |2017年第2017期|共3页
作者
Dhrubajyoti Sharma; Aman Gupta; Shubham Goel; Madhubala Sharma; Amit Rawat; Surjit Singh;
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作者单位

Allergy Immunology Unit Dept of Pediatrics Advanced Pediatrics Centre Postgraduate Institute of;

Allergy Immunology Unit Dept of Pediatrics Advanced Pediatrics Centre Postgraduate Institute of;

Allergy Immunology Unit Dept of Pediatrics Advanced Pediatrics Centre Postgraduate Institute of;

Allergy Immunology Unit Dept of Pediatrics Advanced Pediatrics Centre Postgraduate Institute of;

Allergy Immunology Unit Dept of Pediatrics Advanced Pediatrics Centre Postgraduate Institute of;

Allergy Immunology Unit Dept of Pediatrics Advanced Pediatrics Centre Postgraduate Institute of;

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原文格式 PDF
正文语种 eng
中图分类医学免疫学;
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1. Large BTK gene mutation in a child with X-linked agammaglobulinemia and polyarthritis [J] . Dhrubajyoti Sharma, Aman Gupta, Shubham Goel, Clinical immunology: The official journal of the Clinical Immunology Society . 2017,第期

机译：具有X型激动的Agammaglobulinemia和多关节炎的儿童中的大BTK基因突变
2. Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. [J] . Holinski-Feder E, Weiss M, Brandau O, Pediatrics: Official Publication of the American Academy of Pediatrics . 1998,第2期

机译：X连锁无球蛋白血症（XLA）的56个家庭中BTK基因的突变筛选：47个独特的突变，与临床病程无关。
3. Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton’s tyrosine kinase (BTK) gene mutations [J] . Shanshan Gao, Shuang Hu, Huikun Duan, BMC Medical Genetics . 2020,第1期

机译：中国河南省22家家族临床特征及产前诊断与X-Conneded Agammaglobulinemia（XLA）与Bruton的酪氨酸激酶（BTK）基因突变有关
4. Stability and peptide binding specificity of BTK SH2 domain:molecular basis for X-linked agammaglobulinemia [C] . Shiou-Ru Tzeng, Ming-Tao Pai, Feng-Di T.Lung, the International Peptide Symposium . 2001

机译：BTK SH2结构域的稳定性和肽结合特异性：X型Agammagloblobulinemia的分子基础
5. Correction of Btk deficiency in murine models of X-linked agammaglobulinemia by retroviral mediated gene therapy. [D] . Yu, Phyllis W. 2004

机译：通过逆转录病毒介导的基因疗法纠正X连锁的丙种球蛋白血症小鼠模型中Btk缺乏症。
6. A Novel BTK Gene Mutation in a Child With Atypical X-Linked Agammaglobulinemia and Recurrent Hemophagocytosis: A Case Report [O] . Shu-Ping Han, Yung-Feng Lin, Hui-Ying Weng, -1

机译：儿童非典型X连锁的球蛋白球蛋白血症和复发性吞噬细胞的新型BTK基因突变：病例报告。
7. A Simple Method of Blood Collection to Detect Mutational Changes BTK Gene Analysis in Vietnamese Children With XLA X-Linked Agammaglobulinemia [O] . Anh V.T. Nguyen, Le Thi Minh Huong, Gesmar Segundo, 2018

机译：一种简单的血液收集方法，以检测越南儿童越南儿童的突变变化BTK基因分析 X-Linked Agammaglobobulinemia

Large BTK gene mutation in a child with X-linked agammaglobulinemia and polyarthritis

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