X-连锁丙种球蛋白血症患者的疗效

IF 7.2 2区 医学 Q1 IMMUNOLOGY Journal of Clinical Immunology Pub Date : 2024-11-14 DOI:10.1007/s10875-024-01829-z
Ben Shillitoe, Jaime S Rosa Duque, Sophie H Y Lai, Tsun Ming Lau, Jeffery C H Chan, Helen Bourne, Catherine Stroud, Terry Flood, Matthew Buckland, Winnie Ip, Austen Worth, Scott Hackett, Archana Herwadkar, Tanya Coulter, Catherine Blaney, Stephen Jolles, Tomaz Garcez, Eduardo Moya, Saul Faust, Mark S Pearce, Yu Lung Lau, Andrew R Gennery
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引用次数: 0

摘要

背景:由 BTK 基因突变引起的 X 连锁丙种球蛋白血症(XLA)的特征是外周 CD19 + B 淋巴细胞低下或缺失以及丙种球蛋白血症。主要治疗方法包括免疫球蛋白替代疗法(IgRT)。由于这种疗法不能完全弥补 XLA 的免疫缺陷,因此患者仍有可能出现并发症:描述英国和香港 XLA 患者的临床疗效,并评估当前的治疗策略:方法:将明确诊断为XLA的患者纳入临床健康结果的横断面回顾性分析中。收集并分析了有关诊断、感染发生率、IgG 谷值水平和肺功能的数据:99名患者的中位年龄为29.02岁(IQR为12.83-37.41),总随访时间为1922年。确诊时的中位年龄为 3.30 岁(IQR 1.04-8.38),随着时间的推移中位年龄有所下降(p = 0.004)。40%的患者有支气管扩张的放射学证据。支气管扩张的风险与临床感染发生率(p = 0.880)或 IgG 谷值水平(p = 0.407)无明显关联。两名患者出现了新的并发症,即持续诺如病毒感染,导致造血干细胞移植(HSCT):结论:尽管采用了现代疗法,但大多数XLA患者仍会出现并发症,最明显的是支气管扩张,这可能是由于当前疗法中缺乏IgA/M,但缺乏B淋巴细胞也可能导致其他后遗症。这些数据有力地支持了进一步研究的必要性,尤其是包括造血干细胞移植和基因治疗在内的治疗模式。
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Outcomes of X-Linked Agammaglobulinaemia Patients.

Background: X-linked agammaglobulinaemia (XLA), caused by mutations in BTK, is characterised by low or absent peripheral CD19 + B lymphocytes and agammaglobulinaemia. The mainstay of treatment consists of immunoglobulin replacement therapy (IgRT). As this cannot fully compensate for the immune defects in XLA, patients may therefore continue to be at risk of complications.

Objectives: To describe the clinical outcomes of XLA patients in the United Kingdom and Hong Kong and evaluate current treatment strategies.

Methods: Patients with a definitive diagnosis of XLA were included in this cross-sectional and retrospective analysis of clinical health outcomes. Data pertaining to diagnosis, infection incidence, IgG trough levels and lung function were collected and analysed.

Results: 99 patients with a median age of 29.02 years (IQR 12.83-37.41) and a total follow up of 1922 patient years, were included this study. The median age at diagnosis was 3.30 years (IQR 1.04-8.38) which decreased over time (p = 0.004). 40% of the cohort had radiological evidence of bronchiectasis. Risk of bronchiectasis was not significantly associated with clinical infection incidence (p = 0.880) or IgG trough levels (p = 0.407). Two patients demonstrated novel complications, namely persistent norovirus infection, leading to haemopoietic stem cell transplantation (HSCT).

Conclusions: Despite modern therapy, most XLA patients continue to experience complications, most notably bronchiectasis, likely due to absence of IgA/M in current therapies, but lack of B lymphocytes may also lead to additional sequalae. These data strongly support the need for further research, particularly that of curative modalities including HSCT and gene therapy.

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来源期刊
CiteScore
12.20
自引率
9.90%
发文量
218
审稿时长
2 months
期刊介绍: The Journal of Clinical Immunology publishes impactful papers in the realm of human immunology, delving into the diagnosis, pathogenesis, prognosis, or treatment of human diseases. The journal places particular emphasis on primary immunodeficiencies and related diseases, encompassing inborn errors of immunity in a broad sense, their underlying genotypes, and diverse phenotypes. These phenotypes include infection, malignancy, allergy, auto-inflammation, and autoimmunity. We welcome a broad spectrum of studies in this domain, spanning genetic discovery, clinical description, immunologic assessment, diagnostic approaches, prognosis evaluation, and treatment interventions. Case reports are considered if they are genuinely original and accompanied by a concise review of the relevant medical literature, illustrating how the novel case study advances the field. The instructions to authors provide detailed guidance on the four categories of papers accepted by the journal.
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