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 3,542L2

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。

• 2026-10
  Correction to: Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta‑Analysis
  Journal of clinical immunology · DOI · Europe PMC
• 2026-10
  Abstracts
  JPGN reports
• 2026-10随机对照试验开放获取
  Toripalimab consolidation after chemoradiotherapy in limited-stage small cell lung cancer: a phase II, randomized controlled study (GASTO-1052A)
  Journal for immunotherapy of cancer · DOI · Europe PMC
• 2026-10综述
  Transient hypogammaglobulinemia of infancy: revisiting an old entity
  Expert review of clinical immunology · DOI · Europe PMC
• 2026-10综述开放获取
  Immunoglobulin a Deficiency in Coeliac Disease: A Scoping Review
  United European gastroenterology journal · DOI · Europe PMC
• 2026-10综述
  Approach and Management of Abnormal T-Cell Receptor Excision Circles on Newborn Screening
  NeoReviews · DOI · Europe PMC
• 2026-10开放获取
  Associations of Serum CIRP and CXCL5 With Prognosis and Neutrophil Extracellular Traps in Pediatric Mycoplasma pneumoniae Pneumonia
  The clinical respiratory journal · DOI · Europe PMC
• 2026-10开放获取
  An Integrated Analysis of Manganese Metabolism-Related Genes and Their Association With Biomarkers, Immune Infiltration, and Clinical Subtypes in Alzheimer's Disease
  Genes, brain, and behavior · DOI · Europe PMC
• 2026-09综述
  Strengthening legal safeguards against genetic discrimination: review and recommendations for Malaysia
  Journal of community genetics · DOI · Europe PMC
• 2026-09开放获取
  Blood DNA methylation profile is altered in severe bronchiectasis
  ERJ open research · DOI · Europe PMC
• 2026-09
  Multi-Indication Budget Impact Analysis of Subcutaneous IgPro20 Pre-filled Syringes for the Treatment of Primary Immunodeficiency Syndromes, Secondary Immunodeficiencies, and Chronic Inflammatory Demyelinating Polyneuropathy in Italy
  Advances in therapy · DOI · Europe PMC
• 2026-09开放获取
  HIV-1 Vpr Drives a B Cell-Like Phenotype in Primary CD4<sup>+</sup> T Cells
  MedComm · DOI · Europe PMC
• 2026-09开放获取
  Integrative multi-omics profiling and machine learning reveal enhancer RNA signatures for early detection and prognostic stratification in breast cancer
  NAR cancer · DOI · Europe PMC
• 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
  The European respiratory journal · DOI · Europe PMC
• 2026-09
  A rare ATM variant in a Colombian family with chorea-ataxia syndrome: implications for an early diagnosis
  Neurogenetics · DOI · Europe PMC
• 2026-09开放获取
  Construction and evaluation of a chronic arthritis animal model induced by persistent activation of toll-like receptors via lipopolysaccharide stimulation
  Animal models and experimental medicine · DOI · Europe PMC
• 2026-09
  Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED): Epidemiology, Pathogenesis, Clinical Manifestations, Diagnosis, and Management
  Endocrine, metabolic & immune disorders drug targets · DOI · Europe PMC
• 2026-09开放获取
  Association of IFN-γ +874 T/A Polymorphism With COVID-19 Susceptibility, Severity, and Inflammatory Response: A Case-Control Study From Southern Iran
  Journal of clinical laboratory analysis · DOI · Europe PMC
• 2026-09开放获取
  Cardiac tamponade caused by effusive-constrictive pericarditis in a patient with common variable immunodeficiency: a case report
  International journal of emergency medicine · DOI · Europe PMC
• 2026-09
  Standardised Human Phenotype Ontology Annotation Enables High Quality Phenotypic Data Capture in a Real-World Common Variable Immunodeficiency Cohort
  The Journal of allergy and 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）的药品与罕见病用药资格公开导出表，以及美国 FDA 的罕见病用药资格数据库（Orphan Drug Product Designation Database）。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
• 尚未开始招募NCT03217617
  SCID-X1 Gene Therapy Via Intravenous Lentiviral (Ivlv-X1) Injection
  I 期、II 期 · 干预性 · 2027/06/30Shenzhen Geno-Immune Medical Institute
  中国研究中心 1 个：Shenzhen

中国境外的在招试验 112L2

CT.gov 报告命中 112 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NCT07794735
  A Study of TAK-664 in People With Primary Immunodeficiency Diseases Who Have Not Yet Been Treated With Immunoglobulins
  IV 期 · 干预性 · 2026/11/01Takeda
• 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NCT07670156
  Upadacitinib in Treatment of JAK/STAT Pathway Disorders With Activating Mutations
  I 期、II 期 · 干预性 · 2026/10Lisa Satter
  美国
• 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
• 招募中NCT07654829
  Safety and Effectiveness of Sebetralstat (KVD900) for Short-Term Prophylaxis Before Procedures in People With Hereditary Angioedema (KONTROL)
  IV 期 · 干预性 · 2026/08/17KalVista Pharmaceuticals, Ltd.
  美国
• 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

外部标识与链接