家族性噬血细胞淋巴组织细胞病（HLH）的遗传学。

IF 2.5 3区医学 Q2 HEMATOLOGY

Hematology-Oncology Clinics of North America Pub Date : 2025-04-07 DOI:10.1016/j.hoc.2025.02.002

Kejian Zhang, Lauren K Meyer, Rafal Machowicz, Maria Luisa Coniglio, Elena Sieni, Kim E Nichols

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引用次数: 0

摘要

家族性噬血细胞淋巴组织细胞病（fHLH）是一组罕见的遗传性免疫系统疾病，其特征是不受控制的炎症反应。fHLH是由损害CD8 T细胞和自然杀伤细胞的细胞毒性的基因突变引起的。如果不进行治疗，fHLH通常是致命的，但早期诊断和治疗，包括免疫抑制治疗，以及在许多情况下，异体造血干细胞移植（HSCT），可以改善总体结果。基因检测对于确认诊断，识别特定基因突变，评估家庭成员的携带者状态或疾病风险，以及为HSCT的供体选择提供信息至关重要。

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Genetics of Familial Hemophagocytic Lymphohistiocytosis (HLH).

Familial hemophagocytic lymphohistiocytosis (fHLH) represents a group of rare, inherited immune system disorders characterized by uncontrolled inflammatory responses. fHLH results from genetic mutations that impair CD8 T cell and natural killer cell cytotoxicity. Without treatment, fHLH is commonly fatal, but early diagnosis and treatment, including immunosuppressive therapy, and in many cases, an allogeneic hematopoietic stem cell transplant (HSCT), can improve overall outcomes. Genetic testing is critical for confirming the diagnosis, identifying specific gene mutations, assessing family members for carrier status or disease risk, and informing donor selection for HSCT.

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来源期刊

Hematology-Oncology Clinics of North America 医学-血液学

CiteScore

4.10

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Hematology/Oncology Clinics updates you on the latest trends in patient management, keeps you up to date on the newest advances, and provides a sound basis for choosing treatment options. Under the direction of an experienced guest editor, each issue focuses on a single topic in hematology and oncology, including hemostasis and thrombosis, molecular and cellular basis of hematology, coagulation disorders, and cancers—bone, gastrointestinal, head and neck, lymphomas, neuroendocrine, breast, renal cell, melanoma, and more.