重型先天性中性白细胞减少症

定义 英文原文（暂无中文）

A rare primary immunodeficiency, without an associated lymphocyte deficit, characterized by impaired neutrophil maturation and/or function, associated with severe infections, diverse comorbidities, and/or an increased risk of leukemic transformation.

基本事实

遗传方式

常染色体显性、常染色体隐性、X 连锁隐性

发病年龄

儿童期

患病率

1-9 / 1 000 000（Europe）

相关基因 13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。

近两年的全球研究 243L2

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开放获取
  Proteomic Signatures of Noise-Induced Hearing Loss in the Mouse Cochlea
  Cell biology international · DOI · Europe PMC
• 2026-09
  Clinical outcome and infectious complications in genetic and suspected genetic neutropenia: A report from the Canadian Inherited Marrow Failure Registry
  British journal of haematology · DOI · Europe PMC
• 2026-09开放获取
  GTPase cycle and ER membrane regulate cargo handover during cotranslational protein targeting
  Science advances · DOI · Europe PMC
• 2026-09
  A yeast model for the functional analysis of SRP54 mutations associated with severe congenital neutropenia
  The FEBS journal · DOI · Europe PMC
• 2026-09病例报告开放获取
  A Rare Case of Neonatal-Onset Diarrhea Due to Congenital Tufting Enteropathy: Clinical, Histopathological, and Genetic Insights
  Reports (MDPI) · DOI · Europe PMC
• 2026-09
  Facial Phenotypic Pattern in Severe Congenital Neutropenia Type 4 (G6PC3 Deficiency): Description and Clinical Value
  Pediatric blood & cancer · DOI · Europe PMC
• 2026-09
  Jagunal homolog 1 safeguards neutrophil immune function by preserving protein sialylation during differentiation
  Blood advances · DOI · Europe PMC
• 2026-08病例报告开放获取
  Early-Onset TRNT1-Related SIFD Syndrome with an Additional Monoallelic C7 Variant: A Pediatric Case Report
  Diagnostics (Basel, Switzerland) · DOI · Europe PMC
• 2026-08病例报告开放获取
  Prenatal diagnosis of glucose-6-phosphatase catalytic subunit 3 deficiency (Dursun syndrome) using whole-exome sequencing: A case report of severe fetal cardiomyopathy in a consanguineous family
  The Journal of international medical research · DOI · Europe PMC
• 2026-08综述开放获取
  Innate immunity: current understandings and future perspectives
  Signal transduction and targeted therapy · DOI · Europe PMC
• 2026-08开放获取
  Wiskott-Aldrich syndrome: clinical, immunological, and genetic characterization of the first Moroccan cohort
  Frontiers in pediatrics · DOI · Europe PMC
• 2026-08综述
  Clinical pearls and pitfalls in inborn errors of immunity: An expert-derived framework for diagnostic pattern recognition
  Pediatric allergy and immunology : official publication of the Europea · 被引 1 · DOI · Europe PMC
• 2026-08开放获取
  COPZ1 depletion induces cell death through different mechanisms in in vitro murine models of thyroid cancer
  European thyroid journal · DOI · Europe PMC
• 2026-08
  TCR-αβ/CD 19 Depleted Graft Versus T Replete Graft With Post-Transplant Cyclophosphamide in Children Undergoing Haploidentical Donor Hematopoietic Stem Cell Transplantation for Inborn Errors of Immunity: A Comparative Analysis From India
  Pediatric transplantation · DOI · Europe PMC
• 2026-07开放获取
  Clinical benefit, price and epidemiology of orphan drugs approved in China: a cross-sectional analysis of orphan drug policy (ODP) in China
  BMJ open · DOI · Europe PMC
• 2026-07开放获取
  Targeting the HPV E6-p53 degradation axis via computational and <i>in vitro</i> identification of a repurposed small-molecule candidate
  Frontiers in oncology · DOI · Europe PMC
• 2026-07综述开放获取
  Splenectomy revisited in Wiskott-Aldrich syndrome in the era of HSCT and gene therapy: a bridge, a rescue, or simply obsolete?
  Frontiers in immunology · DOI · Europe PMC
• 2026-07开放获取
  J2R/F4L deleted oncolytic vaccinia virus synergizes with tumor specific killer (ELANE) promotes antitumor immunity with superior safety
  Frontiers in immunology · DOI · Europe PMC
• 2026-07病例报告开放获取
  Palatal Perforation as a Rare Presentation of Severe Congenital Neutropenia Due to an ELANE Mutation
  Cureus · DOI · Europe PMC
• 2026-07综述开放获取
  Fungal Infections in Disorders of Inborn Errors of Immunity
  Clinical reviews in allergy & immunology · DOI · Europe PMC

境外已获批用于本病的药物 0L2

欧盟与美国均未检索到已获批用于本病的药物。

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。

中国境外的在招试验 5L2

共 5 项。

• 招募中NCT07066085
  Serial Blood Count Study
  早期 I 期 · 干预性 · 2024/10/17University of Washington
  美国
• 招募中NCT06056297
  A Study of Mavorixafor in Participants With Congenital and Acquired Primary Autoimmune and Idiopathic Chronic Neutropenic Disorders Who Are Experiencing Recurrent and/or Serious Infections
  III 期 · 干预性 · 2024/06/06X4 Pharmaceuticals
  阿根廷、澳大利亚、比利时、加拿大、哥伦比亚、捷克、法国、Georgia 等 25 国
• 招募中NCT06999954
  Shwachman-Diamond Syndrome Global Patient Survey and Partnering Platform
  观察性 · 2024/02/07Shwachman-Diamond Syndrome Alliance Inc
  美国
• 招募中NCT04099966
  AlloSCT for Malignant and Non-malignant Hematologic Diseases Utilizing Alpha/Beta T Cell and CD19+ B Cell Depletion
  II 期 · 干预性 · 2021/04/01Mitchell Cairo
  美国
• 招募中NCT02720679
  Investigation of the Genetics of Hematologic Diseases
  观察性 · 2016/06/17St. Jude Children's Research Hospital
  美国

外部标识与链接