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重症联合免疫缺陷

Severe combined immunodeficiency

ORPHA:183660疾病组中国目录 第1批 · 94

定义

严重联合免疫缺陷（SCID）是一组罕见的单基因原发性免疫缺陷疾病，其主要临床表现为缺乏功能性的外周T淋巴细胞，导致早期严重呼吸道感染和发育不良，可根据免疫表型分为以下2类：无T细胞有B细胞的SCID（T-B+SCID）和两者均不存在的SCID（T-B-SCID）（见术语）。这两组疾病均有不同分型，伴或不伴自然杀伤细胞（NK）细胞。

别名

SCID

基本事实

遗传方式
常染色体隐性、X 连锁隐性
发病年龄
婴儿期、新生儿期
患病率
1-9 / 100 000（Europe）

相关基因 32来自下位疾病

Orphanet 未在本条目上直接标注致病基因。下表由本组所属的下位疾病汇总而来，「来源条目」列给出基因实际标注在哪一个 ORPHA 条目上。

基因名称来源条目
ADAadenosine deaminaseORPHA:277
AK2adenylate kinase 2ORPHA:33355
CARD11caspase recruitment domain family member 11ORPHA:357237
CARMIL2capping protein regulator and myosin 1 linker 2ORPHA:542301
CD247CD247 moleculeORPHA:169160
CD3DCD3 delta subunit of T-cell receptor complexORPHA:169160
CD3ECD3 epsilon subunit of T-cell receptor complexORPHA:169160
CD70CD70 moleculeORPHA:538958
CHD7chromodomain helicase DNA binding protein 7ORPHA:39041
CIITAclass II major histocompatibility complex transactivatorORPHA:572
CORO1Acoronin 1AORPHA:228003
DCLRE1CDNA cross-link repair 1CORPHA:275
FOXN1forkhead box N1ORPHA:169095
IKBKBinhibitor of nuclear factor kappa B kinase subunit betaORPHA:397787
IL2RGinterleukin 2 receptor subunit gammaORPHA:39041
IL7Rinterleukin 7 receptorORPHA:39041
JAK3Janus kinase 3ORPHA:35078
LATlinker for activation of T cellsORPHA:504523
LCKLCK proto-oncogene, Src family tyrosine kinaseORPHA:280142
LIG4DNA ligase 4ORPHA:99812
NHEJ1non-homologous end joining factor 1ORPHA:169079
NUDCD3NudC domain containing 3ORPHA:39041
PRKDCprotein kinase, DNA-activated, catalytic subunitORPHA:317425
PSMB10proteasome 20S subunit beta 10ORPHA:39041
PTPRCprotein tyrosine phosphatase receptor type CORPHA:169157
RAC2Rac family small GTPase 2ORPHA:183707
RAG1recombination activating 1ORPHA:157949
RAG2recombination activating 2ORPHA:157949
RFX5regulatory factor X5ORPHA:572
RFXANKregulatory factor X associated ankyrin containing proteinORPHA:572
RFXAPregulatory factor X associated proteinORPHA:572
RMRPRNA component of mitochondrial RNA processing endoribonucleaseORPHA:39041

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。

  • 2026-10
    Functional analysis of adrenocorticotropic-hormone-producing pituitary cells derived from human pluripotent stem cells in murine and primate models of hypopituitarism
    Stem cell research & therapy · DOI · Europe PMC
  • 2026-10开放获取
    Management change following NGS diagnosis of inborn errors of immunity: The Australasian experience
    Journal of human immunity · DOI · Europe PMC
  • 2026-10
    Persistent SARS-CoV-2 infection in SCID rats reflects immune vulnerability of the upper airway and trachea
    Microbiology spectrum · DOI · Europe PMC
  • 2026-10开放获取
    Small populations, big impact: leveraging rare disease gene therapies to benefit millions
    The Journal of clinical investigation · 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
    Antitumor effects of CEP32496 on urothelial carcinoma with BRAF mutation (V595E) in dogs
    Canadian journal of veterinary research = Revue canadienne de recherch · Europe PMC
  • 2026-10
    The Animal Variant Classification Guidelines v2: An Update With New Criteria and Improved Clarifications
    Animal genetics · DOI · Europe PMC
  • 2026-10
    Islet-Targeted ZnT8 Antibodies Protect Pancreatic β-Cells From Inflammatory Stress
    Diabetes · DOI · Europe PMC
  • 2026-09开放获取
    Life-threatening hepatic complications in children with ADA-SCID
    Journal of human immunity · DOI · Europe PMC
  • 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
    EJHaem · DOI · Europe PMC
  • 2026-09
    Autosomal recessive HOXA3 deficiency causes congenital athymia and laryngeal malformation
    The Journal of allergy and clinical immunology · DOI · Europe PMC
  • 2026-09
    Clinical, immunological, and molecular characteristics of severe combined immune deficiency in China
    Human genetics · DOI · Europe PMC
  • 2026-09开放获取
    RMF-Activated Superparamagnetic Iron Oxide Nanoparticles Trigger Macrophage-Dependent Protection Against <i>Babesia microti</i> Infection
    International journal of molecular sciences · DOI · Europe PMC
  • 2026-09开放获取
    Human inborn errors of the phagocyte respiratory burst: Chronic granulomatous disease and beyond
    Journal of human immunity · DOI · Europe PMC
  • 2026-09开放获取
    Pemetrexed increases BRCA1 protein stability and sensitizes TNBC cells to radiotherapy
    Oncology reports · DOI · Europe PMC
  • 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
    Veterinary sciences · DOI · Europe PMC
  • 2026-09综述开放获取
    Viral Reactivation in Immunocompetent Critically Ill Patients
    Microorganisms · DOI · Europe PMC
  • 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)
    BMJ open · DOI · Europe PMC
  • 2026-09
    Foscarnet-associated Hypercalcemia in an Infant With Cytomegalovirus Myocarditis and Severe Combined Immunodeficiency: An Unusual Therapeutic Challenge
    Journal of pediatric hematology/oncology · DOI · Europe PMC
  • 2026-09病例报告
    Orbital lymphoma presenting as preseptal cellulitis in a child with ataxia-telangiectasia
    BMJ case reports · DOI · Europe PMC

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2016-05-26
    autologous CD34+ enriched cell fraction that contains CD34+ cells transduced with retrov…
    官方记录
  • Adagen美国1990-03-21
    Pegademase bovine
    官方记录
  • Revcovi美国2018-10-05
    elapegademase-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2001-05-30
    Treatment of severe combined immunodeficiency (SCID)-Xl Disease
    官方记录
  • autologous CD34+ cells transduced with a lentiviral vector containing 欧盟2013-06-07
    Treatment of adenosine-deaminase-deficient severe combined immunodeficiency
    官方记录
  • autologous hematopoietic cells genetically modified with a lentiviral 欧盟2023-01-13
    Treatment of recombination-activating gene 2 deficient severe combined immunodeficiency
    官方记录
  • autologous CD34+ haematopoietic stem and progenitor cells transduced w欧盟2026-07-28
    Treatment 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2009-08-26
    Treatment 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2014-10-21
    Treatment of adenosine deaminase deficient severe combined immunodeficiency
    官方记录
  • firolimogene autotemcel美国2020-08-31
    treatment X-linked severe combined immunodeficiency.
    官方记录
  • Mobilized peripheral blood-derived autologous CD34+ hematopoietic stem美国2020-09-18
    Treatment of severe combined immunodeficiency
    官方记录
  • autologous CD34+ hematopoietic stem and progenitor cells transduced wi美国2023-06-20
    Treatment of patients with Artemis-deficient Severe Combined Immunodeficiency
    官方记录
  • autologous CD34+ cells transduced with a lentiviral vector containing 美国2024-09-17
    treatment of severe combined immunodeficiency (SCID)
    官方记录
  • autologous CD3delta severe combined immune deficiency hematopoietic st美国2026-05-03
    treatment 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
  • 尚未开始招募NCT03645460
    Gene Therapy for ADA-SCID Using an Improved Lentiviral Vector (Ivlv-ADA)
    不适用 · 干预性 · 2027/06/30Shenzhen Geno-Immune Medical Institute
    中国研究中心 1 个：Shenzhen
  • 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
其他状态的试验（4 项）
  • 状态未知NCT02231983
    Clinical Characteristics and Genetic Profiles of Severe Combined Immunodeficiency in China
    观察性 · 2014/09Shanghai Children's Medical Center
    中国研究中心 1 个：Shanghai
  • 已完成NCT02590328
    Neonatal Screening of Severe Combined Immunodeficiencies
    观察性 · 2015/12Children's Hospital of Fudan University
    中国研究中心 1 个：Shanghai
  • 状态未知NCT04172181
    Multi-center Clinical Study of Cord Blood Stem Cell Transplantation for SCID
    观察性 · 2019/12/01Children's Hospital of Fudan University
    中国研究中心 1 个：Shanghai
  • 状态未知NCT04286815
    Gene Therapy for X Linked Severe Combined Immunodeficiency
    不适用 · 干预性 · 2020/05/01Children's Hospital of Chongqing Medical University
    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NCT07704281
    Follow-up of the Cohort of Newborns Screened at Birth Using TREC Analysis
    观察性 · 2026/11/01Nantes University Hospital
    法国
  • 招募中NCT07284641
    Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD)
    II 期 · 干预性 · 2026/05/04Paul Szabolcs
    美国
  • 招募中NCT07474935
    Targeting Real World Usage In Stroke Treatment
    观察性 · 2026/01/29Phenox GmbH
    法国、德国、意大利、斯洛伐克、瑞士
  • 招募中NCT06659588
    Study of Populations at Risk of Developing Chronic Hepatitis Linked to Chronic Enteric Virus Infection in Patients With Primary Immunodeficiency and Secondary Humoral Deficiency
    观察性 · 2024/10/10Assistance Publique - Hôpitaux de Paris
    法国
  • 招募中NCT05071222
    Safety 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)
    I 期、II 期 · 干预性 · 2023/07/19Assistance Publique - Hôpitaux de Paris
    法国
  • 招募中NCT05651113
    The Experience of Screening for SCID
    观察性 · 2022/11/09King's College London
    英国
  • 招募中NCT05086692
    A Beta-only IL-2 ImmunoTherapY Study
    I 期、II 期 · 干预性 · 2021/08/27Medicenna Therapeutics, Inc.
    澳大利亚、加拿大、爱尔兰、葡萄牙、韩国、西班牙、美国
  • 招募中NCT04528355
    Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
    观察性 · 2020/08/20Paul Szabolcs
    美国
  • 招募中NCT03538899
    Autologous Gene Therapy for Artemis-Deficient SCID
    I 期、II 期 · 干预性 · 2018/05/31University of California, San Francisco
    美国
  • 招募中NCT03394053
    The Mechanistic Biology of Primary Immunodeficiency Disorders
    观察性 · 2018/05/30National Institute of Allergy and Infectious Diseases (NIAID)
    美国
  • 招募中NCT03311503
    Phase I/II Trial of Lentiviral Gene Transfer for SCID-X1 With Low Dose Targeted Busulfan Conditioning
    I 期、II 期 · 干预性 · 2018/02/26David Williams
    美国
  • 招募中NCT01962415
    Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
    II 期 · 干预性 · 2014/02/04Paul Szabolcs
    美国
  • 招募中NCT01306019
    Lentiviral Gene Transfer for Treatment of Children Older Than Two Years of Age With X-Linked Severe Combined Immunodeficiency (XSCID)
    I 期、II 期 · 干预性 · 2012/09/25National Institute of Allergy and Infectious Diseases (NIAID)
    美国
  • 招募中NCT00128973
    Evaluation of Patients With Immune Function Abnormalities
    观察性 · 2005/09/19National Institute of Allergy and Infectious Diseases (NIAID)
    美国
  • 招募中NCT00055172
    Genetic Basis of Immunodeficiency
    观察性 · 2004/04/05National Heart, Lung, and Blood Institute (NHLBI)
    美国

外部标识与链接

OrphanetMONDO:0015974MONDO:15974GARD:7628ICD-11 4A01.10ClinicalTrials.gov 检索

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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）