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AGAMMAGLOBULINEMIA: 作品数：5被引量：16H指数：1; 导出分析报告; 相关领域：医药卫生更多>>; 相关期刊：《Chinese Medical Journal》《World Journal of Pediatrics》《Case Reports in Clinical Medicine》《Open Journal of Pediatrics》更多>>; 相关基金：国家自然科学基金更多>>

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Comprehensive newborn screening for severe combined immunodefciency,X‑linked agammaglobulinemia,and spinal muscular atrophy:the Chinese experience: 《World Journal of Pediatrics》2024年第12期1270-1282,共13页Chi Chen Chao Zhang Ding-Wen Wu Bing-Yi Wang Rui Xiao Xiao-Lei Huang Xin Yang Zhi-Gang Gao Ru-Lai Yang; sponsored by the National Key Research and Development Program of China(No.2022YFC2703401).; Background Newborn screening(NBS)for severe combined immunodefciency(SCID),X-linked agammaglobulinemia(XLA),and spinal muscular atrophy(SMA)enables early diagnosis and intervention,signifcantly improving patient outco...; 关键词：Genetic diagnosis Newborn screening Severe combined immunodefciency Spinal muscular atrophy X-linked agammaglobulinemia

Novel deletion mutation in Bruton’s tyrosine kinase results in X-linked agammaglobulinemia:A case report: 《World Journal of Clinical Cases》2020年第17期3859-3866,共8页Xiao-Mei Hu Ke Yuan Hong Chen Chun Chen Yan-Lan Fang Jian-Fang Zhu Li Liang Chun-Lin Wang; National Natural Science Foundation of China,No. 11571309;the Zhejiang Health Bureau Fund,No. 2016ZHA004。; BACKGROUND X-linked agammaglobulinemia is a primary immunodeficiency disease caused by gene mutations of Bruton’s tyrosine kinase(BTK).We found a new mutation point and summarized the correlation analysis and perform...; 关键词：AGAMMAGLOBULINEMIA Bruton’s tyrosine kinase MUTATION IMMUNODEFICIENCY Case report

A Novel Bruton’s Tyrosine Kinase Mutation in Russian Patient with X-Linked Agammaglobulinemia: 《Case Reports in Clinical Medicine》2017年第10期241-249,共9页S. Deryabina I. Tuzankina E. Vlasova A. Pavlova M. Bolkov; X-Linked Agammaglobulinemia (XLA) is the major primary immunodeficiency in which the body is unable to produce the antibodies responsible for the defense against bacteria and viruses. The patient (a 6-month-old boy) w...; 关键词：X-LINKED AGAMMAGLOBULINEMIA Primary IMMUNODEFICIENCY BTK-Gene

Characteristics of Good＇s Syndrome in China： A Systematic Review被引量：16: 《Chinese Medical Journal》2017年第13期1604-1609,共6页Jin-Pei Dong Wen Gag Gui-Gen Teng Yu Tian Hua-Hong Wang; Background： Good＇s syndrome （GS） is a rare disease characterized by thymoma, hypogammaglobulinemia, low or absent B-cells, decreased T-cells, an inverted CD4＋/CD8＋ T-cell ratio and redtlced T-cell mitogen prolif...; 关键词：AGAMMAGLOBULINEMIA DIARRHEA Good＇s Syndrome Immunologic Deficiency Syndromes THYMOMA

Allergic and nonallergic rhinitis in children: The role of nasal cytology: 《Open Journal of Pediatrics》2013年第2期133-138,共6页Maria Cristina Provero Alberto Macchi Sara Antognazza Maddalena Marinoni Luigi Nespoli; Nasal cytology is a diagnostic tool currently used in rhinology to study either allergic and vasomotor rhinological disorders or infectious and inflammatory rhinitis. Over the past few years nasal cytology has been ra...; 关键词：ALLERGIC RHINITIS CHILDREN NASAL CYTOLOGY Nonallergic RHINITIS X-Linked AGAMMAGLOBULINEMIA

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