X连锁淋巴增殖性疾病

别名

Purtilo综合征

基本事实

遗传方式

X 连锁隐性

发病年龄

青少年期、成年期、儿童期、婴儿期

患病率

<1 / 1 000 000（Europe）

相关基因 2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 106L2

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。

• 2026-09综述开放获取
  Interface between inborn errors of immunity and rheumatological disorders in children: A pediatrician's conundrum
  World journal of clinical pediatrics · DOI · Europe PMC
• 2026-09开放获取
  Genetic Heterogeneity of Inborn Errors of Immunity Revealed by Whole-Genome Sequencing: Insights from a Russian Patient Cohort
  International journal of molecular sciences · DOI · Europe PMC
• 2026-09开放获取
  Spectrum of Primary Hemophagocytic Lymphohistiocytosis-Associated Gene Mutations in Chinese Patients
  MedComm · DOI · Europe PMC
• 2026-09开放获取
  Posaconazole Target Attainment in Critically Ill Children: A 15-Year Single-Center Retrospective Analysis
  Clinical and translational science · DOI · Europe PMC
• 2026-09开放获取
  Editorial: Case reports in autoimmune and autoinflammatory disorders, volume II
  Frontiers in immunology · DOI · Europe PMC
• 2026-08开放获取
  Bridging the medical cliff: a paediatric-adult continuity of care model for 2,341 young adults with rare diseases in China
  Frontiers in pediatrics · DOI · Europe PMC
• 2026-08
  Clinical characteristics of IgE deficiency among patients with primary immunodeficiencies: Findings from the United States Immunodeficiency Network (USIDNET) registry
  Annals of allergy, asthma & immunology : official publication of the A · DOI · Europe PMC
• 2026-08综述开放获取
  Oral Lichen Planus and Oral Lichenoid Lesion in Pediatric Patients: A Narrative Review of Published Case Reports
  Reports (MDPI) · DOI · Europe PMC
• 2026-08开放获取
  "Innovative diagnostics and treatments of infections in transplantation," report from the 2025 &lt;i&gt;spring highlights in transplantation sciences&lt;/i&gt; meeting
  Transplant international : official journal of the European Society fo · DOI · Europe PMC
• 2026-08综述开放获取
  Genetic and autoimmune predispositions to fulminant viral hepatitis in children
  Frontiers in immunology · DOI · Europe PMC
• 2026-07病例报告开放获取
  Diagnosis and treatment of familial hemophagocytic lymphohistiocytosis with isolated central nervous system involvement: A case report
  Annals of hematology · DOI · Europe PMC
• 2026-07开放获取
  Treating hematologic immune dysregulation in inborn errors of immunity: a real-life multicenter study
  Frontiers in immunology · DOI · Europe PMC
• 2026-07综述开放获取
  Targeting T follicular helper cells for lifelong health
  Nature reviews. Drug discovery · DOI · Europe PMC
• 2026-07开放获取
  The Underestimated Role of Environmental Factors in the Prevention of Invasive Fungal Disease: Experience From a European Childhood Cancer Centre
  Mycoses · DOI · Europe PMC
• 2026-06
  Acute Encephalopathy From Central Nervous System Hemophagocytic Lymphohistiocytosis (CNS HLH) in X-Linked Lymphoproliferative Disease Type 1 (XLP-1)
  Journal of child neurology · DOI · Europe PMC
• 2026-06综述开放获取
  Intersection Between Systemic Autoimmune Diseases, Primary Immunodeficiency and Cancer: a Field in its Infancy
  Journal of clinical immunology · DOI · Europe PMC
• 2026-05开放获取
  RASGRP1 Deficiency Manifesting as Severe Vasculopathy and Fatal Autoimmune Hemolytic Anemia
  EJHaem · DOI · Europe PMC
• 2026-05开放获取
  Malignancy-Associated Hemophagocytic Lymphohistiocytosis: An Experience of 15 Years in Polish Pediatric Hematology Centers
  Journal of blood medicine · DOI · Europe PMC
• 2026-05开放获取
  Genetic-Proteomic Integration Identifies Predictive Plasma Proteins for Multiple Sclerosis
  Annals of neurology · DOI · Europe PMC
• 2026-05综述开放获取
  Navigating primary and secondary immunodeficiency intersections: how to find IEI hidden within SID
  Allergy, asthma, and clinical immunology : official journal of the Can · DOI · Europe PMC

在中国开展的临床试验 1L2

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 1

• 招募中NCT04645199
  National Longitudinal Cohort of Hematological Diseases
  观察性 · 2020/12/01Institute of Hematology & Blood Diseases Hospital, China
  中国研究中心 1 个：Tianjin

中国境外的在招试验 8L2

CT.gov 报告命中 8 项，此处取回并展示最近的 7 项。

• 招募中NCT06610019
  Cardiovascular Multimodality Imaging Study
  观察性 · 2023/05/01Montefiore Medical Center
  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NCT03050268
  Familial Investigations of Childhood Cancer Predisposition
  观察性 · 2017/04/06St. Jude Children's Research Hospital
  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NCT06065852
  National Registry of Rare Kidney Diseases
  观察性 · 2009/11/06UK Kidney Association
  英国
• 招募中NCT00001405
  Recruitment and Apheresis Collection of Peripheral Blood Hematopoietic Stem Cells, Mononuclear Cells and Granulocytes
  观察性 · 1994/02/27National Institute of Allergy and Infectious Diseases (NIAID)
  美国
• 可获取（拓展性用药）NCT01881334
  Expanded Access to T-cell Depleted Haplo-Identical Stem Cells for Patients Receiving Haplo-Identical and Unrelated Cord Blood Transplants
  拓展性用药Joanne Kurtzberg, MD
  美国

外部标识与链接