非严重联合免疫缺陷
Non-severe combined immunodeficiency
别名
Non-SCID
近两年的全球研究 2,320L2
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。
- 2026-10Functional analysis of adrenocorticotropic-hormone-producing pituitary cells derived from human pluripotent stem cells in murine and primate models of hypopituitarism
- 2026-10开放获取Management change following NGS diagnosis of inborn errors of immunity: The Australasian experience
- 2026-10Persistent SARS-CoV-2 infection in SCID rats reflects immune vulnerability of the upper airway and trachea
- 2026-10开放获取Small populations, big impact: leveraging rare disease gene therapies to benefit millions
- 2026-10综述Approach and Management of Abnormal T-Cell Receptor Excision Circles on Newborn Screening
- 2026-10Antitumor effects of CEP32496 on urothelial carcinoma with BRAF mutation (V595E) in dogs
- 2026-10The Animal Variant Classification Guidelines v2: An Update With New Criteria and Improved Clarifications
- 2026-10Islet-Targeted ZnT8 Antibodies Protect Pancreatic β-Cells From Inflammatory Stress
- 2026-09开放获取Life-threatening hepatic complications in children with ADA-SCID
- 2026-09开放获取The Power of Hematopoietic Stem Cell Transplantation (HSCT): A Curative Approach for Diffuse Large B-Cell Lymphoma (DLBCL) Incidentally Detected in a SCID Baby
- 2026-09Autosomal recessive HOXA3 deficiency causes congenital athymia and laryngeal malformation
- 2026-09Clinical, immunological, and molecular characteristics of severe combined immune deficiency in China
- 2026-09开放获取RMF-Activated Superparamagnetic Iron Oxide Nanoparticles Trigger Macrophage-Dependent Protection Against <i>Babesia microti</i> Infection
- 2026-09开放获取Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond
- 2026-09开放获取Pemetrexed increases BRCA1 protein stability and sensitizes TNBC cells to radiotherapy
- 2026-09开放获取Immunohistochemical Detection, In Situ Distribution, and Comparison of Tuft Cells and Other Selected Components of Mucosal Immunity in Nasal Turbinates of Piglets Challenged with Rotavirus from Sows Fed Vitamin A-Deficient Diets with or Without Vitamin A Supplementation
- 2026-09综述开放获取Viral Reactivation in Immunocompetent Critically Ill Patients
- 2026-09开放获取Randomised treatment of acute pancreatitis with infliximab: protocol for a double-blind, placebo-controlled, multi-centre, adaptive, phase 2 superiority trial (RAPID-I)
- 2026-09Foscarnet-associated Hypercalcemia in an Infant With Cytomegalovirus Myocarditis and Severe Combined Immunodeficiency: An Unusual Therapeutic Challenge
- 2026-09病例报告Orbital lymphoma presenting as preseptal cellulitis in a child with ataxia-telangiectasia
境外已获批用于本病的药物 3L2
欧盟 1 项、美国 2 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。
- Strimvelis欧盟2016-05-26autologous CD34+ enriched cell fraction that contains CD34+ cells transduced with retrov…官方记录
- Adagen美国1990-03-21Pegademase bovine官方记录
- Revcovi美国2018-10-05elapegademase-lvlr官方记录
尚未获批的在研药物（11 项）
这些药已被欧盟或美国的监管机构认定为罕见病用药（英文 orphan drug designation，中文行业里通称「孤儿药资格」——「孤儿」说的是这类药市场太小、没有厂商愿意认领，不是在说病人）。但这只是一种监管身份：意味着监管机构给予研发上的激励，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。
- retroviral gamma c cDNA containing vector欧盟2001-05-30Treatment of severe combined immunodeficiency (SCID)-Xl Disease官方记录
- autologous CD34+ cells transduced with a lentiviral vector containing 欧盟2013-06-07Treatment of adenosine-deaminase-deficient severe combined immunodeficiency官方记录
- autologous hematopoietic cells genetically modified with a lentiviral 欧盟2023-01-13Treatment of recombination-activating gene 2 deficient severe combined immunodeficiency官方记录
- autologous CD34+ haematopoietic stem and progenitor cells transduced w欧盟2026-07-28Treatment of severe combined immunodeficiency (SCID) due to DCLRE1C (Artemis) deficiency官方记录
- autologus CD34+ cells transfected with retroviral vector containing ad美国2009-08-26Treatment of severe combined immunodeficiency due to adenosine deaminase deficiency.官方记录
- autologous bone marrow CD34+ cells transduced ex vivo with a self acti美国2014-10-21Treatment of adenosine deaminase deficient severe combined immunodeficiency官方记录
- firolimogene autotemcel美国2020-08-31treatment X-linked severe combined immunodeficiency.官方记录
- Mobilized peripheral blood-derived autologous CD34+ hematopoietic stem美国2020-09-18Treatment of severe combined immunodeficiency官方记录
- autologous CD34+ hematopoietic stem and progenitor cells transduced wi美国2023-06-20Treatment of patients with Artemis-deficient Severe Combined Immunodeficiency官方记录
- autologous CD34+ cells transduced with a lentiviral vector containing 美国2024-09-17treatment of severe combined immunodeficiency (SCID)官方记录
- autologous CD3delta severe combined immune deficiency hematopoietic st美国2026-05-03treatment of severe combined immunodeficiency (SCID)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 7L2
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 3
- 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
- 尚未开始招募NCT03645460Gene Therapy for ADA-SCID Using an Improved Lentiviral Vector (Ivlv-ADA)中国研究中心 1 个：Shenzhen
- 尚未开始招募NCT03217617SCID-X1 Gene Therapy Via Intravenous Lentiviral (Ivlv-X1) Injection中国研究中心 1 个：Shenzhen
其他状态的试验（4 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
- 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
中国境外的在招试验 18L2
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10法国4德国1意大利1斯洛伐克1瑞士1英国1澳大利亚1加拿大1爱尔兰1葡萄牙1韩国1西班牙1
CT.gov 报告命中 18 项，此处取回并展示最近的 15 项。
- 尚未开始招募NCT07704281Follow-up of the Cohort of Newborns Screened at Birth Using TREC Analysis法国
- 招募中NCT07284641Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)美国
- 招募中NCT07474935Targeting Real World Usage In Stroke Treatment法国、德国、意大利、斯洛伐克、瑞士
- 招募中NCT06659588Study of Populations at Risk of Developing Chronic Hepatitis Linked to Chronic Enteric Virus Infection in Patients With Primary Immunodeficiency and Secondary Humoral Deficiency法国
- 招募中NCT05071222Safety and Efficacy Study of Transplantation of Autologous CD34+ Cells Transduced With the G2ARTE Lentiviral Vector Expressing the DCLRE1C cDNA in Artemis (DCLRE1C) Deficient Severe Combined Immunodeficiency Patients (ARTEGENE)法国
- 招募中NCT05651113The Experience of Screening for SCID英国
- 招募中NCT05086692A Beta-only IL-2 ImmunoTherapY Study澳大利亚、加拿大、爱尔兰、葡萄牙、韩国、西班牙、美国
- 招募中NCT04528355Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC美国
- 招募中NCT03538899Autologous Gene Therapy for Artemis-Deficient SCID美国
- 招募中NCT03394053The Mechanistic Biology of Primary Immunodeficiency Disorders美国
- 招募中NCT03311503Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning美国
- 招募中NCT01962415Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT美国
- 招募中NCT01306019Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID)美国
- 招募中NCT00128973Evaluation of Patients With Immune Function Abnormalities美国
- 招募中NCT00055172Genetic Basis of Immunodeficiency美国
外部标识与链接
发现这一页有错误？告诉我 · 邮件主题会自动带上本页的 ORPHA 编号
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）