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 93L2

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。

• 2026-06
  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
• 2026-05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
• 2026-05开放获取
  Increased Expression of CXCL9, CXCL10, and CXCL11 in Epstein-Barr Virus-Associated Infectious Mononucleosis and the Role of CXCL5 as a Candidate Biomarker of Disease Severity
  Pathogens (Basel, Switzerland) · DOI · Europe PMC
• 2026-04病例报告开放获取
  A novel XIAP variant in a patient with hydrops fetalis: HSCT and beyond?
  BMC pediatrics · DOI · Europe PMC
• 2026-04综述
  Genetic mechanisms underlying host susceptibility to central nervous system viral infections
  Current opinion in infectious diseases · DOI · Europe PMC
• 2026-04开放获取
  Letermovir for cytomegalovirus prophylaxis in pediatric allogeneic hematopoietic stem cell transplantation: a single-center experience
  Blood research · DOI · Europe PMC
• 2026-04开放获取
  Acquired nonpermissive BM microenvironment impairs HSC proliferation and maintenance, and B-cell development after HSCT
  Blood advances · DOI · Europe PMC
• 2026-03综述开放获取
  IL2RG-related immunodeficiencies: from SCID to atypical presentations
  Frontiers in immunology · DOI · Europe PMC
• 2026-03综述开放获取
  Epstein-Barr virus-associated lymphoma: current understanding and treatment strategies
  Blood research · DOI · Europe PMC
• 2026-03综述开放获取
  Gastroenterological disorders in inborn errors of immunity. Part 2 A. Overview of selected diseases
  Przeglad gastroenterologiczny · DOI · Europe PMC
• 2026-03开放获取
  Harnessing Cytomegalovirus DNAemia and CMV-Specific Cell-Mediated Immunity in Pediatric Allogeneic Hematopoietic Stem Cell Transplant Recipients
  Journal of Korean medical science · DOI · Europe PMC
• 2026-02开放获取
  PD-1 protects expanding human T cells from premature restimulation-induced cell death by modulating TCR and CD28 signaling
  Cell death & disease · DOI · Europe PMC
• 2026-02开放获取
  Infection Complications in Pediatric Patients With Inborn Errors of Immunity After Umbilical Cord Blood Transplantation: A Chinese Single-Center Study
  Transplant infectious disease : an official journal of the Transplanta · DOI · Europe PMC
• 2026-02综述开放获取
  Burkitt Lymphoma-A Guide to Biological Features, Diagnosis and Differential Diagnosis
  Cancers · 被引 1 · DOI · Europe PMC
• 2026-02综述开放获取
  Association Between Common Variable Immunodeficiency and Pulmonary Amyloidosis: Review
  Journal of clinical medicine
• 2026-02
  Editorial Expression of Concern: The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
  Nature · DOI · Europe PMC
• 2026-01综述开放获取
  Neuroimaging in inborn errors of immunity: More than infections
  Neuroradiology · DOI · Europe PMC
• 2026-01开放获取
  Longitudinal plasma proteomic signatures of elite and viremic spontaneous HIV controllers
  Nature communications · 被引 1 · 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