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

Immunologic Research 2026 Open access

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Authors: Yu Han, H R Chen, Ying Li, Yuhong Yin, Xiuxian Zhu, Xiaoyan Wu
DOI: 10.1007/s12026-025-09739-x
Cited by: 1
References: 16

Abstract

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.

Fields of Study & Subjects

Blood groups and transfusion Erythrocyte Function and Pathophysiology Immunodeficiency and Autoimmune Disorders

Publication details

Journal / source
Immunologic Research
Publisher
Springer Science and Business Media LLC
Volume
74
Issue
1
Publication date
2 May 2026
Language
EN