Autoimmune lymphoproliferative immunodeficiencies (ALPID) in childhood: breakdown of immune homeostasis and immune dysregulation.

IF 2.4 Q1 PEDIATRICS Molecular and cellular pediatrics Pub Date : 2023-09-13 DOI:10.1186/s40348-023-00167-1
Vasil Toskov, Stephan Ehl
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Abstract

Many inborn errors of immunity (IEI) manifest with hallmarks of both immunodeficiency and immune dysregulation due to uncontrolled immune responses and impaired immune homeostasis. A subgroup of these disorders frequently presents with autoimmunity and lymphoproliferation (ALPID phenotype). After the initial description of the genetic basis of autoimmune lymphoproliferative syndrome (ALPS) more than 20 years ago, progress in genetics has helped to identify many more genetic conditions underlying this ALPID phenotype. Among these, the majority is caused by a group of autosomal-dominant conditions including CTLA-4 haploinsufficiency, STAT3 gain-of-function disease, activated PI3 kinase syndrome, and NF-κB1 haploinsufficiency. Even within a defined genetic condition, ALPID patients may present with staggering clinical heterogeneity, which makes diagnosis and management a challenge. In this review, we discuss the pathophysiology, clinical presentation, approaches to diagnosis, and conventional as well as targeted therapy of the most common ALPID conditions.

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儿童自身免疫性淋巴增生性免疫缺陷(ALPID):免疫稳态的破坏和免疫失调。
许多先天性免疫缺陷(IEI)表现为免疫缺陷和免疫失调的特征,由于不受控制的免疫反应和免疫稳态受损。这些疾病的一个亚组经常表现为自身免疫和淋巴细胞增生(ALPID表型)。在20多年前对自身免疫性淋巴细胞增生性综合征(ALPS)的遗传基础进行初步描述之后,遗传学的进展帮助确定了更多ALPID表型背后的遗传条件。其中,大多数是由一组常染色体显性疾病引起的,包括CTLA-4单倍不全、STAT3功能获得性疾病、活化PI3激酶综合征和NF-κB1单倍不全。即使在确定的遗传条件下,ALPID患者也可能表现出惊人的临床异质性,这使得诊断和管理成为一项挑战。在这篇综述中,我们讨论了最常见的ALPID的病理生理、临床表现、诊断方法、常规治疗和靶向治疗。
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