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X连锁无丙种球蛋白血症

X-linked agammaglobulinemia

ORPHA:47疾病亚型中国目录 第1批 · 119

定义 英文原文（暂无中文）

A clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder, characterized in affected males by recurrent bacterial infections during infancy.

别名

Bruton型无丙种球蛋白血症

基本事实

遗传方式
X 连锁隐性
发病年龄
儿童期
患病率
1-9 / 1 000 000（Europe）

相关基因 1

基因名称关联类型
BTKBruton tyrosine kinaseDisease-causing germline mutation(s) in

临床表型 35

极常见 99–80%17

  • 淋巴系统异常 HP:0100763
  • 扁桃体异常 HP:0100765
  • 无丙种球蛋白血症 HP:0004432
  • 慢性腹泻 HP:0002028
  • 慢性中耳炎 HP:0000389
  • 结膜炎 HP:0000509
  • 发育迟滞 HP:0001508
  • 疲乏 HP:0012378
  • 发热 HP:0001945
  • 舌后坠 HP:0000162
  • 免疫缺陷 HP:0002721
  • 复发性皮肤脓肿 HP:0100838
  • 反复肺炎 HP:0006532
  • 身材矮小 HP:0004322
  • 鼻窦炎 HP:0000246
  • 皮疹 HP:0000988
  • 皮肤溃疡 HP:0200042

常见 79–30%8

  • 肺部形态异常 HP:0002088
  • 关节炎 HP:0001369
  • 蜂窝织炎 HP:0100658
  • 中性粒细胞减少症 HP:0001875
  • 低钙血症 HP:0002901
  • 脑膜炎 HP:0001287
  • 感音神经性听力受损 HP:0000407
  • 脓毒症 HP:0100806

偶见 29–5%10

  • 脱发 HP:0001596
  • 贫血 HP:0001903
  • 自身免疫 HP:0002960
  • 肝炎 HP:0012115
  • 皮肤色素减退斑 HP:0001053
  • 吸收不良 HP:0002024
  • 肿瘤 HP:0002664
  • 骨髓炎 HP:0002754
  • 血小板减少症 HP:0001873
  • 体重减轻 HP:0001824

近两年的全球研究 374L2

2024/08 起在 Europe PMC 检索所得，按发表时间倒序显示最近 20 篇。标题未译成中文——自动翻译需要接入 LLM 服务，尚未引入。

  • 2026-07
    Bruton Tyrosine Kinase as Therapeutic Target in Cardiovascular Diseases-Executive Summary
    Thrombosis and haemostasis · DOI · Europe PMC
  • 2026-07
    Implementation of TREC/KREC Newborn Screening in a High-Birth-Rate Population: A Pilot Study of 5000 Neonates in South Kazakhstan
    International journal of neonatal screening · DOI · Europe PMC
  • 2026-06综述病例报告
    Inborn errors of immunity in Low German Mennonite communities in Mexico: a case series and narrative literature review
    Frontiers in immunology · DOI · Europe PMC
  • 2026-06综述
    Development of Clinical Pathways for Early Diagnosis and Management of SCID, SMA, and XLA Through Newborn Screening in Malaysia
    International journal of neonatal screening · DOI · Europe PMC
  • 2026-06综述开放获取
    Australasian Society of Clinical Immunology and Allergy consensus statement on IEI molecular diagnosis
    Journal of human immunity · DOI · Europe PMC
  • 2026-06综述开放获取
    Non-receptor tyrosine kinase signaling pathways and therapeutic implications
    Signal transduction and targeted therapy · DOI · Europe PMC
  • 2026-06综述开放获取
    Ataxia–Telangiectasia and Associated Bronchiectasis: Case Report and Literature Review
    Journal of clinical medicine
  • 2026-06开放获取
    Pharmacokinetic Model Based Sensitivity Analysis to Lower Recruitment Burden for Young Children Requiring Intravenous Immunoglobulin G Replacement
    CPT: pharmacometrics & systems pharmacology · DOI · Europe PMC
  • 2026-06荟萃分析系统综述开放获取
    Invasive fungal infections after Bruton tyrosine kinase inhibitor treatment: a systematic review and meta-analysis
    Blood advances · DOI · Europe PMC
  • 2026-05病例报告开放获取
    Case Report: A case series of using whole exome sequencing to detect novel variants in Vietnamese patients with inborn errors of immunity
    Frontiers in genetics · DOI · Europe PMC
  • 2026-05系统综述开放获取
    Population Pharmacokinetics and Pharmacodynamics of Immunoglobulins: A Systematic Review
    Clinical pharmacokinetics · DOI · Europe PMC
  • 2026-05
    Rates and Outcomes of Head and Neck Cancer Among Patients With Primary Immunodeficiency Disorders
    Otolaryngology--head and neck surgery : official journal of American A · DOI · Europe PMC
  • 2026-05综述病例报告开放获取
    Atypical X-linked agammaglobulinemia diagnosed in adulthood with arthritis caused by a hypomorphic BTK splice-site variant: a case report and literature review
    Frontiers in immunology · DOI · Europe PMC
  • 2026-05综述开放获取
    Pulmonary surveillance in inborn errors of immunity: current challenges and emerging approaches
    Frontiers in immunology · DOI · Europe PMC
  • 2026-05开放获取
    CORSA study finds spike-specific blunted immune responses in lymphoma patients after SARS-CoV-2 vaccine
    Frontiers in immunology · DOI · Europe PMC
  • 2026-05系统综述开放获取
    Overview of next-generation sequencing to the molecular diagnosis of inborn errors of immunity in Brazil: a systematic review
    Frontiers in immunology · DOI · Europe PMC
  • 2026-05病例报告
    Adult Sibling Cases of Cutaneous Botryomycosis Leading to the Diagnosis of X-Linked Agammaglobulinemia
    The American Journal of dermatopathology · DOI · Europe PMC
  • 2026-05开放获取
    Targeting a Pleckstrin Homology Domain with a Lysine-Reactive Covalent Binder
    Journal of medicinal chemistry · DOI · Europe PMC
  • 2026-05综述开放获取
    Bruton's Tyrosine Kinase Inhibitors in Multiple Sclerosis
    Drugs · DOI · Europe PMC
  • 2026-05
    Diagnostic workflow for X-linked agammaglobulinemia integrating BTK expression and B-cell maturation analysis by flow cytometry
    Cytometry. Part B, Clinical cytometry · DOI · Europe PMC

在中国开展的临床试验 1L2

按病名在 ClinicalTrials.gov 检索、并校验研究中心含中国大陆而来。登记状态不等于现在真的能入组——务必按 NCT 号到原站核实，并与主治医生商量。

当前没有检索到登记为可入组的试验。

其他状态的试验（1 项）
  • 状态未知NCT02234791
    Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia
    观察性 · 2014/09Shanghai Children's Medical Center
    中国研究中心 1 个：Shanghai

中国境外的在招试验 2L2

这些试验在中国没有研究中心，通常无法直接报名——入组一般要求在当地居住并接受随访。列在这里是因为它另有用处：看清楚全世界正在试哪些药、做到了哪一期、由谁在做。把药名和 NCT 编号记下来去问主治医生，或据此进一步查该药是否已在境外获批、是否有拓展性用药（expanded access）通道。

比利时1

共 2 项。

  • 尚未开始招募NCT06150833
    IVIG Boya: Safety, Efficacy, and Pharmacokinetics
    III 期 · 干预性 · 2026/09Azidus Brasil
  • 招募中NCT07328178
    Analysis of the Role of IgE Proteoforms in Health and Disease
    观察性 · 2025/01/01KU Leuven
    比利时

外部标识与链接

OrphanetOMIM:300310OMIM:300755MONDO:0010421GARD:1033ICD-10 D80.0ICD-11 4A01.00ClinicalTrials.gov 检索

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本页数据来源

  • 疾病定义、同义词、基因、表型、流行病学：Orphanet（CC BY 4.0）
  • 中文病名：Orphanet 中文包，冻结于 2020-06-01
  • 表型中文标签：HPO 简体中文翻译（CHPO 上游成果）