家族性嗜血细胞性淋巴组织细胞增多症
Familial hemophagocytic lymphohistiocytosis
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 |
|---|---|---|
| PRF1 | perforin 1 | Disease-causing germline mutation(s) in |
| STX11 | syntaxin 11 | Disease-causing germline mutation(s) in |
| UNC13D | unc-13 homolog D | Disease-causing germline mutation(s) in |
| STXBP2 | syntaxin binding protein 2 | Disease-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 180L2
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开放获取Unified long-read panel for Parkinson's and repeat expansion disorders
- 2026-09开放获取Proceedings of the 33rd European Paediatric Rheumatology Congress
- 2026-09综述开放获取Cytokine panels in the treatment and diagnosis of rheumatic diseases: current practices and future promise
- 2026-09综述开放获取Interface between inborn errors of immunity and rheumatological disorders in children: A pediatrician's conundrum
- 2026-09Guidelines on the Use of Therapeutic Apheresis in Clinical Practice-Evidence-Based Approach From the Writing Committee of the American Society for Apheresis: The Tenth Special Issue
- 2026-09开放获取Allogeneic Hematopoietic Stem Cell Transplantation in Hemophagocytic Lymphohistiocytosis: Therapeutic Role and Trigger of Post-Transplant Hyperinflammation
- 2026-08综述开放获取Use of Fluid Biomarkers in NMOSD and MOGAD: Clinical and Research Applications
- 2026-08综述开放获取Genetic and autoimmune predispositions to fulminant viral hepatitis in children
- 2026-08Prospective Study of Targeted Busulfan-Fludarabine Conditioning for Hematopoietic Stem Cell Transplantation in Genetic Rare Diseases
- 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
- 2026-07Emapalumab for the Treatment of Peri-Graft Hemophagocytic Lymphohistiocytosis Reactivation in a Patient With Familial Hemophagocytic Lymphohistiocytosis Type 3
- 2026-07开放获取Carrier frequency of autosomal recessive monogenic disorders in the peruvian population
- 2026-07病例报告开放获取Case Report: Munc13-4 deficiency presenting with autoimmune neuropathy years before FLH: implications for early genetic screening and HSCT timing
- 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
- 2026-07病例报告开放获取Simultaneous onset of familial hemophagocytic lymphohistiocytosis and T-cell large granular lymphocytic leukemia in an adult
- 2026-07开放获取Genetic and molecular approaches for patients with familial hemophagocytic lymphohistiocytosis: a multi-center experience from Mexico
- 2026-07综述Genome Editing for Familial Hemophagocytic Lymphohistiocytosis: Design Principles, Challenges, and Translational Perspectives
- 2026-06开放获取Precision myeloablation with TDM-guided busulfan in pediatric primary immunodeficiencies: a real-world study of 28 patients
- 2026-06综述开放获取Genetic susceptibility shaped by biological state: beyond gene-environment interaction
- 2026-06CNS-Isolated Familial Hemophagocytic Lymphohistiocytosis Masquerading as Pediatric MOGAD-ADEM: A Diagnostic Challenge
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NCT05744063A Post-authorization Study to Describe the Safety and Efficacy of Emapalumab for the Treatment of pHLH in Treatment Experienced Chinese Patients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NCT07741747Impact of Ultra-fast Genetic Diagnosis of Familial Lymphohistiocytosis on the Time to Bone Marrow Transplantation and Overall Survival法国
- 尚未开始招募NCT06736080Safety 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法国
- 招募中NCT05762640Ruxolitinib as First Line Treatment in Primary Haemophagocytic Lymphohistiocytosis (R-HLH)法国
- 招募中NCT01793168Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford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）