导致两名兄弟姐妹患X连锁无丙种球蛋白血症的半合子BTK基因变异 - Suppr

Suppr

超能文献

Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings.

作者信息

Saheb Sharif-Askari Narjes, Hafezi Shirin, Saheb Sharif-Askari Fatemeh, Frommenwiler Naomi, Halwani Rabih

机构信息

Research Institute for Medical and Health Sciences, University of Sharjah, Sharjah, United Arab Emirates.

Department of Clinical Sciences, College of Medicine, University of Sharjah, Sharjah, United Arab Emirates.

出版信息

J Clin Immunol. 2023 Oct;43(7):1533-1536. doi: 10.1007/s10875-023-01534-3. Epub 2023 Jun 21.

DOI:10.1007/s10875-023-01534-3

PMID:37341860

Abstract

摘要

相似文献

Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings.导致两名兄弟姐妹患X连锁无丙种球蛋白血症的半合子BTK基因变异

J Clin Immunol. 2023 Oct;43(7):1533-1536. doi: 10.1007/s10875-023-01534-3. Epub 2023 Jun 21.

X-linked agammaglobulinemia in two siblings with a novel mutation in the BTK gene who presented with polyarticular juvenile idiopathic arthritis.两例携带BTK基因新突变的X连锁无丙种球蛋白血症患儿，表现为多关节型幼年特发性关节炎。

Scand J Rheumatol. 2015;44(2):168-70. doi: 10.3109/03009742.2014.995699.

Novel mutation in X-linked agammaglobulinemia: Report of a 17-year-old male.X连锁无丙种球蛋白血症的新型突变：一名17岁男性的病例报告。

Allergol Immunopathol (Madr). 2021 Mar 1;49(2):80-83. doi: 10.15586/aei.v49i2.62. eCollection 2021.

First report of Wilson disease and Bruton agammaglobulinemia in the same patient caused by new mutations in and genes.首例由和基因突变引起的同一位患者同时患威尔逊病和布鲁顿无丙种球蛋白血症。

Allergol Immunopathol (Madr). 2023 May 1;51(3):108-110. doi: 10.15586/aei.v51i3.770. eCollection 2023.

Clinical and genetic findings in two siblings with X-Linked agammaglobulinemia and bronchiolitis obliterans: a case report.两例 X 连锁无丙种球蛋白血症和闭塞性细支气管炎患者的临床和遗传学发现：病例报告。

BMC Pediatr. 2022 Apr 5;22(1):181. doi: 10.1186/s12887-022-03245-x.

X-Linked Agammaglobulinemia Case with TH Domain Missense Mutation in Bruton Tyrosine Kinase.伴有布鲁顿酪氨酸激酶TH结构域错义突变的X连锁无丙种球蛋白血症病例

J Clin Immunol. 2021 May;41(4):825-828. doi: 10.1007/s10875-020-00962-9. Epub 2021 Jan 27.

X-linked agammaglobulinemia - first case with Bruton tyrosine kinase mutation from Pakistan.X连锁无丙种球蛋白血症——巴基斯坦首例布鲁顿酪氨酸激酶突变病例。

J Pak Med Assoc. 2017 Mar;67(3):471-473.

Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.揭示 X 连锁无丙种球蛋白血症中的低水平母源性性染色体嵌合体：对遗传咨询的影响。

Front Immunol. 2020 Feb 12;11:46. doi: 10.3389/fimmu.2020.00046. eCollection 2020.

Identification of four novel mutations in BTK from six Chinese families with X-linked agammaglobulinemia.从六个 X 连锁无丙种球蛋白血症的中国家庭中鉴定出 BTK 的四个新突变。

Clin Chim Acta. 2022 Jun 1;531:48-55. doi: 10.1016/j.cca.2022.02.019. Epub 2022 Mar 1.

Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report.Btk 同义突变致丙种球蛋白缺乏症 1 例报告

Immun Inflamm Dis. 2023 Oct;11(10):e1049. doi: 10.1002/iid3.1049.

本文引用的文献

Bruton's Tyrosine Kinase: An Emerging Key Player in Innate Immunity.布鲁顿酪氨酸激酶：先天性免疫中一个新出现的关键角色。

Front Immunol. 2017 Nov 8;8:1454. doi: 10.3389/fimmu.2017.01454. eCollection 2017.

Clinical features and mutation analysis of X-linked agammaglobulinemia in 20 Chinese patients.20 例中国 X 连锁无丙种球蛋白血症患者的临床特征和基因突变分析。

World J Pediatr. 2013 Aug;9(3):273-7. doi: 10.1007/s12519-013-0400-x. Epub 2013 Jan 18.

Tyrosine kinase Btk is required for NK cell activation.酪氨酸激酶 Btk 对于 NK 细胞的激活是必需的。

J Biol Chem. 2012 Jul 6;287(28):23769-78. doi: 10.1074/jbc.M112.372425. Epub 2012 May 15.

Bruton's tyrosine kinase phosphorylates Toll-like receptor 3 to initiate antiviral response.布鲁顿酪氨酸激酶磷酸化 Toll 样受体 3 以启动抗病毒反应。

Proc Natl Acad Sci U S A. 2012 Apr 10;109(15):5791-6. doi: 10.1073/pnas.1119238109. Epub 2012 Mar 27.

Primary B cell immunodeficiencies: comparisons and contrasts.原发性B细胞免疫缺陷：比较与对比

Annu Rev Immunol. 2009;27:199-227. doi: 10.1146/annurev.immunol.021908.132649.

Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China.中国大陆X连锁无丙种球蛋白血症的BTK基因突变及临床特征

J Clin Immunol. 2009 May;29(3):352-6. doi: 10.1007/s10875-008-9262-8. Epub 2008 Nov 28.

BTKbase: the mutation database for X-linked agammaglobulinemia.BTKbase：X连锁无丙种球蛋白血症的突变数据库。

Hum Mutat. 2006 Dec;27(12):1209-17. doi: 10.1002/humu.20410.

Bruton's tyrosine kinase is required for lipopolysaccharide-induced tumor necrosis factor alpha production.布鲁顿酪氨酸激酶是脂多糖诱导肿瘤坏死因子α产生所必需的。

J Exp Med. 2003 Jun 16;197(12):1603-11. doi: 10.1084/jem.20021845.

Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X-linked agammaglobulinaemia and carrier females.布鲁顿酪氨酸激酶存在于正常血小板中，其缺失可用于识别患有X连锁无丙种球蛋白血症的患者及女性携带者。

Br J Haematol. 2001 Jul;114(1):141-9. doi: 10.1046/j.1365-2141.2001.02905.x.

Genetic defect in human X-linked agammaglobulinemia impedes a maturational evolution of pro-B cells into a later stage of pre-B cells in the B-cell differentiation pathway.人类X连锁无丙种球蛋白血症中的基因缺陷阻碍了B细胞分化途径中前B细胞从原B细胞向后期前B细胞的成熟演变。

Blood. 2000 Jul 15;96(2):610-7.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验