X连锁无丙种球蛋白血症
X-linked agammaglobulinemia
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 |
|---|---|---|
| BTK | Bruton tyrosine kinase | Disease-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 406L2
2024/10 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。
- 2026-09开放获取Clinical practice guideline for the diagnosis of granulomatous-lymphocytic interstitial lung disease in patients with common variable immunodeficiency disorders: an ERS Clinical Research Collaboration
- 2026-09综述Exploiting KREC: Time for newborn screening and beyond-proceedings from the First International KREC Consortium Meeting
- 2026-09综述开放获取The cost-benefit of newborn screening for X-linked agammaglobulinemia and related B-cell lymphopenia
- 2026-09综述开放获取Primary Immunodeficiency Disorders and Inborn Errors of Immunity in Saudi Arabia: Current Evidence on Epidemiology, Clinical Impact, and Healthcare System Challenges
- 2026-09Recurrent Haemophilus influenzae conjunctivitis and corneal scarring in a boy with x-linked agammaglobulinemia: a case report
- 2026-09开放获取ER proteostasis failure in HYOU1 deficiency alters B cells, neutrophils, and interferon signalling
- 2026-09综述开放获取Overview of Non-Cirrhotic Portal Hypertension in Pediatric Patients
- 2026-09开放获取Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort
- 2026-09综述开放获取Progress and Prospects of Newborn Screening in China
- 2026-09开放获取Clinical and genetic characterization of X-linked agammaglobulinemia in a Colombian cohort
- 2026-09开放获取Clinical and immunologic features of adult primary antibody deficiency according to IVIGRT exposure
- 2026-09综述Human Peripheral B Cell Subsets: Evolving notions about B cell biology and the broad relevance of B cells in disease
- 2026-09病例报告开放获取Right Knee Ureaplasma Septic Arthritis in an Immunocompromised Host, Requiring Right Hip Disarticulation for Definitive Source Control
- 2026-09开放获取Selective degradation of platelet BTK by PROTAC NX-5948 provides antithrombotic benefits without affecting hemostasis
- 2026-08开放获取Vitamin D Status in Children with Primary Immunodeficiency Disorders Receiving Vitamin D Supplementation: A Retrospective Cross-Sectional Study
- 2026-08开放获取Inflammatory marker profiles in immunocompetent hospitalized children with adenovirus infection and association with hospitalization outcomes
- 2026-08<i>Giardia duodenalis</i> Infection and Pachymeningitis in a Patient With Agammaglobulinemia
- 2026-08Clinical characteristics of IgE deficiency among patients with primary immunodeficiencies: Findings from the United States Immunodeficiency Network (USIDNET) registry
- 2026-08开放获取Psychological Symptoms in Patients with Inborn Errors of Immunity and Their Family Members: A Cross-Sectional Study
- 2026-08综述开放获取Enterovirus infections in children
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NCT02234791Mutation of the BTK Gene and Genotype-phenotype Correlation of Chinese Patients With X-Linked Agammaglobulinemia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NCT06150833IVIG Boya: Safety, Efficacy, and Pharmacokinetics
- 招募中NCT07328178Analysis of the Role of IgE Proteoforms in Health and Disease比利时
外部标识与链接
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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）