原发性免疫缺陷
Primary immunodeficiency
基本事实
- 患病率
- 1-9 / 100 000（Europe）
近两年的全球研究 3,305L2
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。
- 2026-08综述CRISPR-Cas9 gene editing approaches in colorectal cancer: Current progress and future prospects
- 2026-08Safety and tolerability of a new intravenous immunoglobulin 10% in patients with primary immunodeficiency
- 2026-08Systematic and proactive evaluation of AIRE missense variant effects
- 2026-08综述Gastrointestinal manifestations of common variable immunodeficiency: what a gastroenterologist needs to be aware of
- 2026-08Impaired immune response to polysaccharide antigens and warning signs in children with recurrent respiratory infections
- 2026-08Granulomatous Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency
- 2026-08病例报告Tricho-Hepato-Enteric Syndromic Immunodeficiency: Clinical Spectrum, Pathobiology, and Emerging Therapies
- 2026-08Prevalence of Drug Allergy Labels Among Pediatric Patients With Inborn Errors of Immunity
- 2026-07综述Evolution of Inborn Errors of Immunity in China: Discoveries and Treatment Paradigms
- 2026-07Persistently Elevated Serum IgM: A Diagnostic Red Flag for Primary Immunodeficiencies: A Case-Based Review and Clinical Approach
- 2026-07Geographic Barriers to Subspecialty Care Access for Patients with Primary Immune Disorders in the United States
- 2026-07Clinical and Laboratory Features of Pediatric Agammaglobulinemia: A Comparative Analysis of Classical, Common Variable Immunodeficiency, and Syndromic Forms
- 2026-07Eczema in inborn errors of immunity with atopy: frequency, timing, phenotypic clustering
- 2026-07The unfolded protein sensor IRE1 is essential for homeostatic dendritic cell maturation
- 2026-07综述Fungal Infections in Disorders of Inborn Errors of Immunity
- 2026-07综述A National Primary Immunodeficiency Registry for Malaysia: A Systematic Review and Evidence-Based Implementation Framework
- 2026-07Bronchiectasis with inborn errors of immunity: Zooming in on predominantly antibody deficiencies
- 2026-07A Detrimental NFKB2 Missense Variant is Associated with Hypogammaglobulinemia
- 2026-07TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT
- 2026-07Bronchiectasis in Inborn Errors of Immunity: Prevalence, Predictors, and Cardiopulmonary Complications in a Genetically Characterized Cohort
境外已获批用于本病的药物 5L2
欧盟 5 项、美国 0 项。同一药物在两地各批一次的，会分别列出。
「境外已获批」不等于「在中国能用」。中间隔着进口注册、临床急需境外新药通道、海南博鳌乐城国际医疗旅游先行区等几条路径，各有各的条件与费用。这一节能确定地告诉你的只有一件事：这个病在世界范围内已经有获得批准的药物，它叫什么名字。拿这个名字去问主治医生，是下一步最省力的做法。
药名一律保留英文原文，不作翻译——中国的药品通用名与英文名的音译经常不一致，译错会让人去找一个不存在的药。
- Kiovig欧盟2006-01-19human normal immunoglobulin官方记录
- Privigen欧盟2008-04-24human normal immunoglobulin (IVIg)官方记录
- Hizentra欧盟2011-04-14human normal immunoglobulin (SCIg)官方记录
- Xolremdi欧盟2026-04-27mavorixafor官方记录
- Joenja欧盟2026-05-21leniolisib官方记录
已获孤儿药资格、尚未获批的在研药物（1 项）
孤儿药资格只是一种监管身份——它意味着监管机构认可这是罕见病用药并给予研发激励，不代表这个药已被证明有效，也不代表将来一定能上市。绝大多数最终不会成药。列在这里是为了看清有哪些方向正在被尝试。
- Aldesleukin美国1989-03-22Treatment of primary immunodeficiency disease associated with T-cell defects.官方记录
数据来自欧洲药品管理局（EMA）的药品与孤儿药资格公开导出表，以及美国 FDA 孤儿药资格数据库。两边口径不同：欧盟一侧取的是当前状态仍为「已授权」的药品；美国一侧记录的是「曾获批准」这一事实，FDA 的公开表不追踪药物此后是否退市（例如 Relyvrio 于 2024 年撤市，表中仍记为已获批）。请以官方记录页为准。
在中国开展的临床试验 14L2
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。
登记为可入组 5
- 招募中NCT03217617SCID-X1 Gene Therapy Via Intravenous Lentiviral (Ivlv-X1) Injection中国研究中心 1 个：Shenzhen
- 招募中NCT06679881Long-Term, Open-label Study of Oral Deucrictibant Extended-Release Tablet for Prophylaxis Against Angioedema Attacks in Adolescents and Adults With HAE中国研究中心 1 个：Beijing
- 招募中NCT06960213STOP-HAE: A Phase 3 Study of ADX-324 in HAE中国研究中心 3 个：Beijing、Harbin、Zhengzhou
- 招募中NCT07371663An Phase Ib/II Clinical Trial of TCC1727 Combination Therapy in Advanced Solid Tumors中国研究中心 3 个：Beijing、Hangzhou、Zhengzhou
- 招募中NCT07428499Phase 3 Extension Study of ADX-324 in Participants With Hereditary Angioedema (HAE)中国研究中心 3 个：Beijing、Harbin、Zhengzhou
其他状态的试验（9 项）
- 状态未知NCT02231983Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China中国研究中心 1 个：Shanghai
- 已完成NCT02590328Neonatal Screening of Severe Combined Immunodeficiencies中国研究中心 1 个：Shanghai
- 已完成NCT03383380Rapamycin Treatment for Activated Phosphoinositide 3-Kinase δ Syndrome中国研究中心 1 个：Shanghai
- 状态未知NCT04172181Multi-center Clinical Study of Cord Blood Stem Cell Transplantation for SCID中国研究中心 1 个：Shanghai
- 状态未知NCT04286815Gene Therapy for X Linked Severe Combined Immunodeficiency中国研究中心 1 个：Chongqing
- 已完成NCT05460325A Study of Lanadelumab (SHP643) in Chinese Participants With Hereditary Angioedema (HAE)中国研究中心 4 个：Beijing、Guangzhou、Wuhan、Yantai
- 已完成NCT06346899A Study of Lanadelumab (Takhzyro) and Icatibant (Firazyr®) in Persons With HAE in China中国研究中心 13 个：Chengdu、Fuzhou、Guangzhou、Hangzhou、Jinan、Kunming 等 12 地
- 已完成NCT06560489Pharmacokinetics and Efficacy of Multiple Dosing of LP-98 for Injection in HIV-infected Patients中国研究中心 1 个：Zhengzhou
- 进行中·不再招募NCT06846398A Phase 2 in Adult Subjects With Hereditary Angioedema中国研究中心 6 个：Beijing、Chengdu、Kunming、Lanzhou、Wuhan、Yantai
中国境外的在招试验 116L2
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。
美国55法国16英国7意大利6瑞士5西班牙4土耳其4波兰3德国3澳大利亚3奥地利3加拿大3巴西2丹麦2另有 19 个国家/地区
CT.gov 报告命中 116 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07446764Integrated Health Services (IHS): A Structural Intervention to Improve HIV/STI Screening and PrEP Navigation in Primary Care美国
- 尚未开始招募NCT07218393A Study About the Diagnosis and Management of Hereditary Angioedema (HAE) in Egypt埃及
- 尚未开始招募NCT07704281Follow-up of the Cohort of Newborns Screened at Birth Using TREC Analysis法国
- 尚未开始招募NCT07726069Haloperidol For Outpatient Symptom Management in Patients Diagnosed With Cannabinoid Hyperemesis Syndrome in the Emergrency Department美国
- 尚未开始招募NCT07445087A Study of Takhzyro in Teenagers and Adults With Hereditary Angioedema (HAE) in South Korea
- 尚未开始招募NCT07709728Biomarkers for Babies and Young Children With Ataxia Telangiectasia
- 尚未开始招募NCT07697118Study Evaluating a Gene Therapy for IPEX Syndrome Through the Expression of FOXP3 on Deficient T Cells to Produce Tregs-like.法国
- 尚未开始招募NCT07660783Naive T Cell Deplete Grafts for GVHD Prevention in Non-Malignant Diseases美国
- 尚未开始招募NCT06150833IVIG Boya: Safety, Efficacy, and Pharmacokinetics
- 尚未开始招募NCT06279949Confidential Care and Adolescent HIV Testing
- 尚未开始招募NCT07766304Long-term Psychological and Cognitive Evaluation of Children Treated With Allogeneic Hematopoietic Stem Cell Transplantation for Immunodeficiency法国
- 招募中NCT07215416Safety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T)美国
- 尚未开始招募NCT07670156Upadacitinib in Treatment of JAK/STAT Pathway Disorders With Activating Mutations美国
- 尚未开始招募NCT07654829Safety and Effectiveness of Sebetralstat (KVD900) for Short-Term Prophylaxis Before Procedures in People With Hereditary Angioedema (KONTROL)美国
- 招募中NCT07698197Exercise Intervention and Immunodeficiency美国
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）