原发性免疫缺陷

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
  Cancer treatment and research communications · DOI · Europe PMC
• 2026-08
  Safety and tolerability of a new intravenous immunoglobulin 10% in patients with primary immunodeficiency
  Immunotherapy · DOI · Europe PMC
• 2026-08
  Systematic and proactive evaluation of AIRE missense variant effects
  American journal of human genetics · DOI · Europe PMC
• 2026-08综述
  Gastrointestinal manifestations of common variable immunodeficiency: what a gastroenterologist needs to be aware of
  Expert review of gastroenterology & hepatology · DOI · Europe PMC
• 2026-08
  Impaired immune response to polysaccharide antigens and warning signs in children with recurrent respiratory infections
  Archivos argentinos de pediatria · DOI · Europe PMC
• 2026-08
  Granulomatous Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency
  The Israel Medical Association journal : IMAJ · Europe PMC
• 2026-08病例报告
  Tricho-Hepato-Enteric Syndromic Immunodeficiency: Clinical Spectrum, Pathobiology, and Emerging Therapies
  The Israel Medical Association journal : IMAJ · Europe PMC
• 2026-08
  Prevalence of Drug Allergy Labels Among Pediatric Patients With Inborn Errors of Immunity
  Annals of allergy, asthma & immunology : official publication of the A · DOI · Europe PMC
• 2026-07综述
  Evolution of Inborn Errors of Immunity in China: Discoveries and Treatment Paradigms
  Clinical reviews in allergy & immunology · DOI · Europe PMC
• 2026-07
  Persistently Elevated Serum IgM: A Diagnostic Red Flag for Primary Immunodeficiencies: A Case-Based Review and Clinical Approach
  Endocrine, metabolic & immune disorders drug targets · DOI · Europe PMC
• 2026-07
  Geographic Barriers to Subspecialty Care Access for Patients with Primary Immune Disorders in the United States
  The journal of allergy and clinical immunology. In practice · DOI · Europe PMC
• 2026-07
  Clinical and Laboratory Features of Pediatric Agammaglobulinemia: A Comparative Analysis of Classical, Common Variable Immunodeficiency, and Syndromic Forms
  Indian pediatrics · DOI · Europe PMC
• 2026-07
  Eczema in inborn errors of immunity with atopy: frequency, timing, phenotypic clustering
  The British journal of dermatology · DOI · Europe PMC
• 2026-07
  The unfolded protein sensor IRE1 is essential for homeostatic dendritic cell maturation
  Nature communications · DOI · Europe PMC
• 2026-07综述
  Fungal Infections in Disorders of Inborn Errors of Immunity
  Clinical reviews in allergy & immunology · DOI · Europe PMC
• 2026-07综述
  A National Primary Immunodeficiency Registry for Malaysia: A Systematic Review and Evidence-Based Implementation Framework
  Asia-Pacific journal of public health · DOI · Europe PMC
• 2026-07
  Bronchiectasis with inborn errors of immunity: Zooming in on predominantly antibody deficiencies
  The journal of allergy and clinical immunology. In practice · DOI · Europe PMC
• 2026-07
  A Detrimental NFKB2 Missense Variant is Associated with Hypogammaglobulinemia
  Journal of clinical immunology · DOI · Europe PMC
• 2026-07
  TTC7A deficiency: A retrospective international study on treatment and outcomes from the Inborn Errors Working Party of EBMT
  Journal of human immunity · DOI · Europe PMC
• 2026-07
  Bronchiectasis in Inborn Errors of Immunity: Prevalence, Predictors, and Cardiopulmonary Complications in a Genetically Characterized Cohort
  Journal of clinical immunology · DOI · Europe PMC

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。

• Kiovig欧盟2006-01-19
  human normal immunoglobulin
  官方记录
• Privigen欧盟2008-04-24
  human normal immunoglobulin (IVIg)
  官方记录
• Hizentra欧盟2011-04-14
  human normal immunoglobulin (SCIg)
  官方记录
• Xolremdi欧盟2026-04-27
  mavorixafor
  官方记录
• Joenja欧盟2026-05-21
  leniolisib
  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NCT03217617
  SCID-X1 Gene Therapy Via Intravenous Lentiviral (Ivlv-X1) Injection
  I 期、II 期 · 干预性 · 2024/06/30Shenzhen Geno-Immune Medical Institute
  中国研究中心 1 个：Shenzhen
• 招募中NCT06679881
  Long-Term, Open-label Study of Oral Deucrictibant Extended-Release Tablet for Prophylaxis Against Angioedema Attacks in Adolescents and Adults With HAE
  III 期 · 干预性 · 2025/02/01Pharvaris Netherlands B.V.
  中国研究中心 1 个：Beijing
• 招募中NCT06960213
  STOP-HAE: A Phase 3 Study of ADX-324 in HAE
  III 期 · 干预性 · 2025/08/28ADARx Pharmaceuticals, Inc.
  中国研究中心 3 个：Beijing、Harbin、Zhengzhou
• 招募中NCT07371663
  An Phase Ib/II Clinical Trial of TCC1727 Combination Therapy in Advanced Solid Tumors
  I 期、II 期 · 干预性 · 2025/12/03Beijing Tide Pharmaceutical Co., Ltd
  中国研究中心 3 个：Beijing、Hangzhou、Zhengzhou
• 招募中NCT07428499
  Phase 3 Extension Study of ADX-324 in Participants With Hereditary Angioedema (HAE)
  III 期 · 干预性 · 2026/04/02ADARx Pharmaceuticals, Inc.
  中国研究中心 3 个：Beijing、Harbin、Zhengzhou

中国境外的在招试验 116L2

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NCT07446764
  Integrated Health Services (IHS): A Structural Intervention to Improve HIV/STI Screening and PrEP Navigation in Primary Care
  不适用 · 干预性 · 2027/02/01My Brother's Keeper, Inc.
  美国
• 尚未开始招募NCT07218393
  A Study About the Diagnosis and Management of Hereditary Angioedema (HAE) in Egypt
  观察性 · 2026/12/01Takeda
  埃及
• 尚未开始招募NCT07704281
  Follow-up of the Cohort of Newborns Screened at Birth Using TREC Analysis
  观察性 · 2026/11/01Nantes University Hospital
  法国
• 尚未开始招募NCT07726069
  Haloperidol For Outpatient Symptom Management in Patients Diagnosed With Cannabinoid Hyperemesis Syndrome in the Emergrency Department
  早期 I 期 · 干预性 · 2026/11University of Illinois at Chicago
  美国
• 尚未开始招募NCT07445087
  A Study of Takhzyro in Teenagers and Adults With Hereditary Angioedema (HAE) in South Korea
  观察性 · 2026/10/01Takeda
• 尚未开始招募NCT07709728
  Biomarkers for Babies and Young Children With Ataxia Telangiectasia
  观察性 · 2026/09/01University of Nottingham
• 尚未开始招募NCT07697118
  Study Evaluating a Gene Therapy for IPEX Syndrome Through the Expression of FOXP3 on Deficient T Cells to Produce Tregs-like.
  I 期、II 期 · 干预性 · 2026/09Assistance Publique - Hôpitaux de Paris
  法国
• 尚未开始招募NCT07660783
  Naive T Cell Deplete Grafts for GVHD Prevention in Non-Malignant Diseases
  II 期 · 干预性 · 2026/09Fred Hutchinson Cancer Center
  美国
• 尚未开始招募NCT06150833
  IVIG Boya: Safety, Efficacy, and Pharmacokinetics
  III 期 · 干预性 · 2026/09Azidus Brasil
• 尚未开始招募NCT06279949
  Confidential Care and Adolescent HIV Testing
  不适用 · 干预性 · 2026/09Yale University
• 尚未开始招募NCT07766304
  Long-term Psychological and Cognitive Evaluation of Children Treated With Allogeneic Hematopoietic Stem Cell Transplantation for Immunodeficiency
  观察性 · 2026/08Assistance Publique - Hôpitaux de Paris
  法国
• 招募中NCT07215416
  Safety and Efficacy of Mutation-targeted Precision Genetic Therapy for Ataxia-Telangiectasia (A-T)
  I 期、II 期 · 干预性 · 2026/08Timothy Yu
  美国
• 尚未开始招募NCT07670156
  Upadacitinib in Treatment of JAK/STAT Pathway Disorders With Activating Mutations
  I 期、II 期 · 干预性 · 2026/08Lisa Satter
  美国
• 尚未开始招募NCT07654829
  Safety and Effectiveness of Sebetralstat (KVD900) for Short-Term Prophylaxis Before Procedures in People With Hereditary Angioedema (KONTROL)
  IV 期 · 干预性 · 2026/07/31KalVista Pharmaceuticals, Ltd.
  美国
• 招募中NCT07698197
  Exercise Intervention and Immunodeficiency
  不适用 · 干预性 · 2026/07/17Yale University
  美国

外部标识与链接