Update on hereditary C1q deficiency: pathophysiology, clinical presentation, genotype and management.

IF 3 4区医学 Q2 ALLERGY

Current Opinion in Allergy and Clinical Immunology Pub Date : 2024-12-01 Epub Date: 2024-10-03 DOI:10.1097/ACI.0000000000001034

Helena Buso, Clément Triaille, Aisling M Flinn, Andrew R Gennery

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引用次数: 0

Abstract

Purpose of review: C1q deficiency is a rare inborn error of immunity characterized by susceptibility to severe infections and profound immune dysregulation, with a systemic lupus erythematosus-like phenotype. The management of patients with C1q deficiency is challenged by the rarity of this condition and the wide clinical variability. This review aims to emphasize the importance of a thorough immunological and clinical characterization to help guide a personalized and comprehensive approach to patients.

Recent findings: We focus on the concept of C1q deficiency as a bridge between the monogenic form of systemic lupus erythematosus and the Mendelian type I interferonopathies. Moreover, we explore the role of new treatment strategies such as Janus-associated kinase (JAK) inhibitors and allogeneic stem cell transplantation.

Summary: In this narrative review, we provide a systematic overview of C1q deficiency, starting with the description of the pathophysiological background and the variable clinical phenotype, and then exploring the different prognoses, the consequent treatment strategies and future directions.

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遗传性 C1q 缺乏症的最新进展：病理生理学、临床表现、基因型和管理。

综述的目的：C1q 缺乏症是一种罕见的先天性免疫错误，其特点是易受严重感染和免疫功能严重失调，具有类似系统性红斑狼疮的表型。C1q 缺乏症的罕见性和广泛的临床变异性给患者的治疗带来了挑战。本综述旨在强调全面的免疫学和临床特征描述的重要性，以帮助指导对患者采取个性化的综合治疗方法：最近的研究成果：我们重点研究了 C1q 缺乏症的概念，它是单基因型系统性红斑狼疮与孟德尔 I 型干扰素病之间的桥梁。此外，我们还探讨了新治疗策略的作用，如Janus相关激酶（JAK）抑制剂和异体干细胞移植。摘要：在这篇叙述性综述中，我们对C1q缺乏症进行了系统概述，首先描述了其病理生理学背景和多变的临床表型，然后探讨了不同的预后、相应的治疗策略和未来发展方向。

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

Current Opinion in Allergy and Clinical Immunology 医学-过敏

CiteScore

5.90

自引率

3.60%

发文量

109

审稿时长

6-12 weeks

期刊介绍： This reader-friendly, bimonthly resource provides a powerful, broad-based perspective on the most important advances from throughout the world literature. Featuring renowned guest editors and focusing exclusively on one to three topics, every issue of Current Opinion in Allergy and Clinical Immunology delivers unvarnished, expert assessments of developments from the previous year. Insightful editorials and on-the-mark invited reviews cover key subjects such as upper airway disease; mechanisms of allergy and adult asthma; paediatric asthma and development of atopy; food and drug allergies; and immunotherapy.