Allogeneic hematopoietic stem cell transplantation in a patient with combined immunodeficiency caused by IRF4 mutation

IF 4.5 3区医学 Q2 IMMUNOLOGY

Clinical immunology Pub Date : 2025-04-22 DOI:10.1016/j.clim.2025.110505

Ping Wang , Xiaowen Qian , Wenjin Jiang , Hongsheng Wang , Jinqiao Sun , Xiaochuan Wang , Xiaowen Zhai

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Abstract

Heterozygous mutations in the interferon regulatory factor 4 (IRF4) can lead to combined immunodeficiency in humans. We report a pediatric case involving a male patient who presented with recurrent pneumonia, chronic diarrhoea, abdominal pain, and a skin rash. Laboratory evaluation revealed hypoglobulinemia and persistent B-cell lymphopenia. Genetic analysis confirmed that the combined immunodeficiency was caused by an IRF4 mutation. Given the failure of conventional therapies, the patient successfully underwent allogeneic hematopoietic stem cell transplantation (HSCT) from an unrelated donor using a reduced-toxicity conditioning regimen. Post-transplant follow-up demonstrated successful immune reconstitution and complete resolution of gastrointestinal symptoms. This case provides clinical evidence supporting HSCT as a feasible strategy to reconstitute the immune system and resolve enteropathy in patients with IRF4 mutations.

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同种异体造血干细胞移植治疗IRF4突变合并免疫缺陷1例

干扰素调节因子4 （IRF4）的杂合突变可导致人类联合免疫缺陷。我们报告一个儿科病例，涉及一名男性患者，他表现为复发性肺炎，慢性腹泻，腹痛和皮疹。实验室检查显示低球蛋白血症和持续性b细胞淋巴减少症。遗传分析证实联合免疫缺陷是由IRF4突变引起的。鉴于常规治疗的失败，患者成功地接受了来自非亲属供体的同种异体造血干细胞移植（HSCT），并使用了降低毒性的调节方案。移植后随访显示成功的免疫重建和胃肠道症状的完全解决。该病例提供了临床证据，支持造血干细胞移植是重建免疫系统和解决IRF4突变患者肠病的可行策略。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Clinical immunology 医学-免疫学

CiteScore

12.30

自引率

1.20%

发文量

212

审稿时长

34 days

期刊介绍： Clinical Immunology publishes original research delving into the molecular and cellular foundations of immunological diseases. Additionally, the journal includes reviews covering timely subjects in basic immunology, along with case reports and letters to the editor.