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家族性嗜血细胞性淋巴组织细胞增多症

Familial hemophagocytic lymphohistiocytosis

ORPHA:540疾病中国目录 第2批 · 26

定义 英文原文（暂无中文）

Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome with an onset usually occurring within a few months or less common several years after birth.

别名

家族性嗜血细胞性淋巴组织细胞增多症

基本事实

遗传方式
常染色体隐性
发病年龄
青少年期、婴儿期
患病率
1-9 / 100 000（Sweden）

相关基因 4

基因名称关联类型
PRF1perforin 1Disease-causing germline mutation(s) in
STX11syntaxin 11Disease-causing germline mutation(s) in
UNC13Dunc-13 homolog DDisease-causing germline mutation(s) in
STXBP2syntaxin binding protein 2Disease-causing germline mutation(s) in

临床表型 45

极常见 99–80%12

  • 骨髓中多系细胞异常 HP:0012145
  • 循环细胞因子水平异常 HP:0011112
  • 肿瘤坏死因子分泌异常 HP:0011118
  • 贫血 HP:0001903
  • 循环肝转氨酶水平升高 HP:0002910
  • 发热 HP:0001945
  • 噬血细胞作用 HP:0012156
  • 低蛋白血症 HP:0003073
  • 免疫失调 HP:0002958
  • 血清铁蛋白升高 HP:0003281
  • 循环γ干扰素浓度增加 HP:0030356
  • 血小板减少症 HP:0001873

常见 79–30%20

  • 自然杀伤细胞生理功能异常 HP:0012177
  • 肾脏生理异常 HP:0012211
  • 皮肤形态异常 HP:0011121
  • 凝血因子级联反应异常 HP:0003256
  • 呼吸系统异常 HP:0002086
  • 脑脊液细胞增多 HP:0012229
  • 胆汁淤积性肝病 HP:0002611
  • 肝功能下降 HP:0001410
  • 中性粒细胞减少症 HP:0001875
  • 瘀斑 HP:0031364
  • 剥脱性皮炎 HP:0001019
  • 肝脏肿大 HP:0002240
  • 高甘油三酯血症 HP:0002155
  • 低纤维蛋白原血症 HP:0011900
  • 循环白细胞介素6水平升高 HP:0030783
  • 淋巴结肿大 HP:0002716
  • 瘀点 HP:0000967
  • 紫癜 HP:0000979
  • 皮疹 HP:0000988
  • 脾肿大 HP:0001744

偶见 29–5%12

  • 脑白质形态异常 HP:0002500
  • 神经系统异常 HP:0000707
  • 瘀斑易感性 HP:0000978
  • 结肠炎 HP:0002583
  • 昏迷 HP:0001259
  • 循环抗体水平降低 HP:0004313
  • 功能性运动障碍 HP:0004302
  • 传染性脑炎 HP:0002383
  • 黄疸 HP:0000952
  • 斑丘疹样皮疹 HP:0040186
  • 周围神经病 HP:0009830
  • 癫痫发作 HP:0001250

罕见 <4–1%1

  • 感音神经性听力受损 HP:0000407

近两年的全球研究 174L2

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。

  • 2026-08
    Prospective Study of Targeted Busulfan-Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Genetic Rare Diseases
    European journal of haematology · DOI · Europe PMC
  • 2026-07
    Emapalumab for the Treatment of Peri-Graft Hemophagocytic Lymphohistiocytosis Reactivation in a Patient With Familial Hemophagocytic Lymphohistiocytosis Type 3
    Pediatric blood & cancer · DOI · Europe PMC
  • 2026-07病例报告
    Case Report: Munc13-4 deficiency presenting with autoimmune neuropathy years before FLH: implications for early genetic screening and HSCT timing
    Frontiers in immunology · DOI · Europe PMC
  • 2026-07病例报告
    Long-term clinical trajectory of microvillus inclusion disease associated with STXBP2-related familial hemophagocytic lymphohistiocytosis type 5: A case report
    JPEN. Journal of parenteral and enteral nutrition · DOI · Europe PMC
  • 2026-07病例报告
    Simultaneous onset of familial hemophagocytic lymphohistiocytosis and T-cell large granular lymphocytic leukemia in an adult
    Annals of hematology · DOI · Europe PMC
  • 2026-07
    Genetic and molecular approaches for patients with familial hemophagocytic lymphohistiocytosis: a multi-center experience from Mexico
    Frontiers in immunology · DOI · Europe PMC
  • 2026-07
    Genome Editing for Familial Hemophagocytic Lymphohistiocytosis: Design Principles, Challenges, and Translational Perspectives
    Human gene therapy · DOI · Europe PMC
  • 2026-06
    CNS-Isolated Familial Hemophagocytic Lymphohistiocytosis Masquerading as Pediatric MOGAD-ADEM: A Diagnostic Challenge
    Indian journal of pediatrics · DOI · Europe PMC
  • 2026-06
    Abstract
    JPGN reports
  • 2026-05
    Genotoxicity profiling reveals distinct platform-and cell type-specific effects in therapeutic gene editing for genetic hyperinflammation
    Cell stem cell · 被引 1 · DOI · Europe PMC
  • 2026-05病例报告开放获取
    Case Report: Cytokine storm syndrome causing retinal inflammatory factor storm
    Frontiers in immunology · DOI · Europe PMC
  • 2026-05综述开放获取
    Primary atopic disorders: Monogenic insights into immunity
    Journal of human immunity · DOI · Europe PMC
  • 2026-05开放获取
    UNCP-18 is a &lt;i&gt;C. elegans&lt;/i&gt; STXBP homolog that is required for full fertility
    microPublication biology · DOI · Europe PMC
  • 2026-05
    [Familial hemophagocytic lymphohistiocytosis presenting initially as autoimmune lymphoproliferative syndrome: a case report]
    Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · DOI · Europe PMC
  • 2026-05开放获取
    Clinical profile, intensive care needs, outcome, and predictors of mortality in children with severe sepsis: Secondary analysis of FerriPedS study
    The Indian journal of medical research · DOI · Europe PMC
  • 2026-05
    Understanding the disease burden and unmet needs of patients with primary immunodeficiency in China: A quantitative study
    Intractable & rare diseases research · DOI · Europe PMC
  • 2026-05病例报告
    Third trimester hydrops fetalis as the presentation leads to prenatal diagnosis of familial hemophagocytic lymphohistiocytosis
    Taiwanese journal of obstetrics & gynecology · DOI · Europe PMC
  • 2026-05综述
    UNC13D in Familial Hemophagocytic Lymphohistiocytosis and Beyond: Functional Mechanisms, Genetic Variants, Multisystem Disease Spectrum and Clinical Implications
    Scandinavian journal of immunology · DOI · Europe PMC
  • 2026-05开放获取
    Digenic and multigenic heterozygous FHL genotypes are common but clinically silent in the general population
    Blood advances · DOI · Europe PMC
  • 2026-04病例报告开放获取
    Adult-onset primary hemophagocytic syndrome with concurrent Epstein-Barr virus infection: a case report with literature review
    Frontiers in oncology · 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。

当前没有检索到登记为可入组的试验。

其他状态的试验（1 项）
  • 已完成NCT05744063
    A Post-authorization Study to Describe the Safety and Efficacy of Emapalumab for the Treatment of pHLH in Treatment Experienced Chinese Patients
    IV 期 · 干预性 · 2023/02/03Swedish Orphan Biovitrum
    中国研究中心 6 个：Beijing、Chongqing、Guangzhou、Nanjing、Shanghai、Zhengzhou

中国境外的在招试验 4L2

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。

法国3澳大利亚1美国1

共 4 项。

  • 尚未开始招募NCT07741747
    Impact of Ultra-fast Genetic Diagnosis of Familial Lymphohistiocytosis on the Time to Bone Marrow Transplantation and Overall Survival
    不适用 · 干预性 · 2026/10Assistance Publique Hopitaux De Marseille
    法国
  • 尚未开始招募NCT06736080
    Safety and Efficacy of Gene Therapy of FHL Type 3 Caused by Mutations in the Human UNC13D Gene by Transplantation of a Single Dose of Autologous CD34+ Cells Transduced ex Vivo With the UNC13D LV Vector Expressing the UNC13D cDNA
    I 期、II 期 · 干预性 · 2026/05Assistance Publique - Hôpitaux de Paris
    法国
  • 招募中NCT05762640
    Ruxolitinib as First Line Treatment in Primary Haemophagocytic Lymphohistiocytosis (R-HLH)
    II 期 · 干预性 · 2024/11/10Assistance Publique - Hôpitaux de Paris
    法国
  • 招募中NCT01793168
    Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
    观察性 · 2010/07Sanford Health
    澳大利亚、美国

外部标识与链接

OrphanetOMIM:267700OMIM:603552OMIM:603553MONDO:0015541MONDO:15541GARD:6589ICD-10 D76.1ICD-11 4A01.23ClinicalTrials.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）