造血干细胞移植治疗 C1q 缺乏症:代表 EBMT 先天性错误工作组进行的一项研究。

IF 7.2 2区 医学 Q1 IMMUNOLOGY Journal of Clinical Immunology Pub Date : 2024-10-29 DOI:10.1007/s10875-024-01819-1
Helena Buso, Etai Adam, Peter D Arkwright, Sagar Bhattad, Amir Ali Hamidieh, Maryam Behfar, Alexandre Belot, Sarah Benezech, Alice Y Chan, Yanick J Crow, Christopher C Dvorak, Aisling M Flinn, Urvi Kapoor, Arjan Lankester, Masao Kobayashi, Risa Matsumura, Hadi Mottaghipisheh, Satoshi Okada, Marie Ouachee, Nima Parvaneh, Stalin Ramprakash, Prakash Satwani, Samin Sharafian, Clément Triaille, Robert F Wynn, Nasim Movahedi, Vahid Ziaee, Eleri Williams, Mary Slatter, Andrew R Gennery
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引用次数: 0

摘要

C1q 缺乏症是一种罕见的先天性免疫错误,其特点是对感染和自身免疫表现的易感性增加,类似系统性红斑狼疮,并伴有发病率和死亡率。由于 C1q 是由单核细胞合成的,迄今为止,已有四名患者接受了异基因造血干细胞移植治疗,其中三人的治疗效果良好。我们进行了一项国际回顾性研究,以评估 C1q 缺乏症造血干细胞移植的疗效。研究共纳入了来自 11 个转诊中心的 18 例患者,其中 14 例此前未曾报道过。两名患者接受了两次造血干细胞移植,因此总共进行了 20 次造血干细胞移植,中位年龄为 10 岁(0.9-19 岁不等)。17名患者的造血干细胞移植指征为持续治疗无法控制的自身免疫表现,1名患者为MALT淋巴瘤的早期发展。两年后的总生存率(OS)为71%,无事件生存率为59%(认为事件为急性坏死性疾病≥III级、疾病复发和死亡)。11名患者的造血干细胞移植导致自身免疫特征消失,并停止了免疫抑制治疗(随访时间范围为3-84个月)。五名患者死于移植相关并发症。具有严重自身免疫表型(定义为神经系统和/或肾脏受累)的患者的OS最差(40% vs 84%; p = 0.034)。通过回顾 69 例经基因证实的 C1q 缺乏患者的数据,我们发现抗 Ro 抗体与神经系统受累有关,而抗 RNP 和抗 DNA 抗体与肾脏受累有关。总之,造血干细胞移植可能是治疗 C1q 缺乏症的有效方法,但必须谨慎选择患者,准确评估风险和获益。
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Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party.

C1q deficiency is a rare inborn error of immunity characterized by increased susceptibility to infections and autoimmune manifestations mimicking SLE, with an associated morbidity and mortality. Because C1q is synthesized by monocytes, to date, four patients treated with allogeneic HSCT have been reported, with a positive outcome in three. We conducted an international retrospective study to assess the outcome of HSCT in C1q deficiency. Eighteen patients, fourteen previously unreported, from eleven referral centres, were included. Two patients had two HSCTs, thus 20 HSCTs were performed in total, at a median age of 10 years (range 0.9-19). Indications for HSCT were autoimmune manifestations not controlled by ongoing treatment in seventeen, and early development of MALT lymphoma in one patient. Overall survival (OS) was 71% and event-free survival was 59% at two years (considering an event as acute GvHD ≥ grade III, disease recurrence and death). In eleven patients HSCT led to resolution of autoimmune features and discontinuation of immunosuppressive treatments (follow-up time range 3-84 months). Five patients died due to transplant-related complications. Patients with a severe autoimmune phenotype, defined as neurological and/or renal involvement, had the worst OS (40% vs 84%; p = 0.034). Reviewing data of 69 genetically confirmed C1q deficient patients, we found that anti-Ro antibodies are associated with neurologic involvement, and anti-RNP and anti-DNA antibodies with renal involvement. In conclusion, HSCT may be a valid curative option for C1q deficiency, but careful selection of patients, with an accurate assessment of risk and benefit, is mandatory.

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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.
期刊最新文献
A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia. Endophilin A2 Deficiency Impairs Antibody Production in Humans. Polysaccharide, Conjugate, and mRNA-based Vaccines are Immunogenic in Patients with Netherton Syndrome. Hematopoietic Stem Cell Transplantation for C1q Deficiency: A Study on Behalf of the EBMT Inborn Errors Working Party. Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.
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