自身免疫性溶血性贫血伴TLR7获得性功能突变1例。

IF 3.1 4区医学 Q3 IMMUNOLOGY

Immunologic Research Pub Date : 2026-05-02 DOI:10.1007/s12026-025-09739-x

Yu Han, Hongbo Chen, Ying Li, Yuhong Yin, Xiuxian Zhu, Xiaoyan Wu

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引用次数: 0

摘要

本文介绍了一例复发性自身免疫性溶血性贫血的儿童与功能获得（GOF）突变的TLR7。该患者的病情与先前记录的6例TLR7中GOF突变病例形成对比，从而扩大了此类突变的表型谱，增强了对儿童期系统性红斑狼疮（cSLE）的临床理解。本文探讨了TLR7 GOF突变导致自身免疫性溶血性贫血的机制，探讨了巨细胞病毒（CMV）感染对该疾病发生发展的影响，并强调了TLR7 GOF突变病例的造血干细胞移植治疗潜力。

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A case of autoimmune hemolytic anemia with acquired functional mutation of the TLR7.

This article presents a case of recurrent autoimmune hemolytic anemia in a child with a gain-of-function (GOF) mutation of the TLR7. This patient's condition contrasts with the six previously documented cases of GOF mutations in the TLR7, thereby expanding the phenotypic spectrum of such mutations and enhancing clinical comprehension of childhood systemic lupus erythematosus (cSLE). The article discusses the mechanisms by which TLR7 GOF mutations can result in autoimmune hemolytic anemia, explores the influence of cytomegalovirus (CMV) infection on the disease's development and progression, and emphasizes the therapeutic potential of hematopoietic stem cell transplantation for cases of TLR7 GOF mutations.

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来源期刊

Immunologic Research 医学-免疫学

CiteScore

6.90

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： IMMUNOLOGIC RESEARCH represents a unique medium for the presentation, interpretation, and clarification of complex scientific data. Information is presented in the form of interpretive synthesis reviews, original research articles, symposia, editorials, and theoretical essays. The scope of coverage extends to cellular immunology, immunogenetics, molecular and structural immunology, immunoregulation and autoimmunity, immunopathology, tumor immunology, host defense and microbial immunity, including viral immunology, immunohematology, mucosal immunity, complement, transplantation immunology, clinical immunology, neuroimmunology, immunoendocrinology, immunotoxicology, translational immunology, and history of immunology.