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 228L2

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。

• 2026-07病例报告
  Case Report: A rare adult case of <i>ELANE</i>-related severe congenital neutropenia revealed by neutropenic enterocolitis
  Frontiers in immunology · DOI · Europe PMC
• 2026-07综述
  Beyond the Neutrophil Count: Functional Profiling and Targeted Modulation of Neutrophils in Paediatric Care
  Journal of innate immunity · DOI · Europe PMC
• 2026-06综述
  Diagnosis and management of neutropenia in adults: Expert guidance
  British journal of haematology · DOI · Europe PMC
• 2026-06
  Further Support of Autosomal Recessive CSF3-Related Severe Congenital Neutropenia
  Clinical genetics · DOI · Europe PMC
• 2026-06综述
  The multidimensional signaling of ELANE: from congenital hematopoietic failure to immune microenvironment crosstalk and targeted interventions
  Cell communication and signaling : CCS · DOI · Europe PMC
• 2026-06病例报告开放获取
  Improvement of Alveolar Bone in a Child with Severe Congenital Neutropenia: Long-Term Clinical Outcomes
  Dentistry journal · DOI · Europe PMC
• 2026-06综述开放获取
  Glycogen and Glycosylation: Friends or Foes?
  Biomolecules
• 2026-05开放获取
  A Novel <i>LMX1A</i> Frameshift Variant Underlies Familial Phenotypic Heterogeneity in DFNA7
  Human mutation · DOI · Europe PMC
• 2026-05病例报告开放获取
  Case Report: Novel <i>CXCR2</i> compound heterozygous variants in an infant with neutropenia
  Frontiers in immunology · DOI · Europe PMC
• 2026-05开放获取
  HAX1 drives assembly and activation of the mitochondrial intermembrane space chaperone CLPB
  bioRxiv : the preprint server for biology
• 2026-05
  Evaluation of bone mineral density in patients with severe congenital neutropenia: experience of six centers in Turkey
  Scientific reports · DOI · Europe PMC
• 2026-05综述开放获取
  The Role of Neutrophils and NETosis in Diseases: The Implications for Therapy
  MedComm · DOI · Europe PMC
• 2026-05开放获取
  Granulocyte differentiation arrest in HAX1-deficient cells, demonstrated in a new in vitro model of a certain phenotypic aspects of Kostmann disease, is caused by ineffective lipid droplet autophagy and fatty acids uptake
  Cell death & disease · DOI · Europe PMC
• 2026-05开放获取
  X-linked SEPTIN6-related congenital neutropenia and B cell deficiency
  Journal of human immunity · DOI · Europe PMC
• 2026-05病例报告开放获取
  Identification of a Novel De Novo Heterozygous SEC61A1 Variant in a Patient With Severe Congenital Neutropenia
  Molecular genetics & genomic medicine · DOI · Europe PMC
• 2026-04开放获取
  Criteria for referring pediatric and adult patients with hematological diseases to palliative care: Consensus of the Brazilian Association of Hematology, hemotherapy and cell therapy (2025)
  Hematology, transfusion and cell therapy · DOI · Europe PMC
• 2026-04
  CAR-neutrophils produced in vivo to treat glioma
  Nature biomedical engineering · 被引 2 · DOI · Europe PMC
• 2026-04开放获取
  Reticular dysgenesis caused by AK2 deficiency: clinical spectrum and hematopoietic stem cell transplantation outcomes in 10 patients from a single-center
  Frontiers in immunology · DOI · Europe PMC
• 2026-04综述开放获取
  Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders
  Journal of innate immunity · DOI · Europe PMC
• 2026-04综述病例报告
  A case of <i>CNTNAP1</i> gene-related abnormality and literature review
  Technology and health care : official journal of the European Society · DOI · Europe PMC

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