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Kathleen Baysac¹, Guangping Sun², Hiroto Nakano¹

¹Translational Genetics and Genomics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Md.

The Journal of allergy and clinical immunology

|September 28, 2023

概括

脂酶C玛2 (PLCG2) 的致病变体导致免疫调节失调. 本研究对这些变异进行了功能性分类,确定了功能增益和一种影响B细胞和NK细胞功能的新功能丧失类.

科学领域:

免疫学免疫学免疫学
遗传学遗传学是一个
分子生物学分子生物学

背景情况:

脂酶C玛2 (PLCG2) 的致病变体与免疫失调 (ID) 有关,包括与PLCγ2相关的抗体缺乏和免疫失调 (PLAID) 和自身炎症性PLAID (APLAID).
在具有多种ID特征的患者中,已经确定了许多具有不确定的意义的PLCG2变异.

研究的目的:

为了功能性地分类PLCG2变体.
为了探索 PLCG2 变种的基因型-功能-表型关系.

主要方法:

通过EGFP-PLCG2等离子体的突变发生生成的PLCG2变体.
在Plcg2缺乏的DT-40 B细胞和测试的B细胞受体诱导的流和ERK酸化中的过度表达变异通过流细胞计.
在初级患者细胞中评估刺激诱导的流量.

主要成果:

四分之三的PLCG2变体在体外改变了B细胞激活.
确定了13种功能增益 (GOF) 变体和一类单基因功能丧失 (LOF) 变体的新型类型.
观察到GOF和LOF变体对感染和自身炎症的易感性;与多种异合体LOF变体相关的新型表型群包括幽默免疫缺陷,自身炎症,疹病毒易感性和NK细胞功能障碍.

结论:

扩大了PLCG2功能变异的基因型和表型关联.
鉴定了一种新型的免疫失调在携带异合体PLCG2功能丧失变体的携带者.
强调需要进行多种分析来评估PLCG2变种对人类疾病的影响.

关键词:

脂酶 C 玛2 2 脂酶 C 玛2 玛2 玛2 玛2 抗体缺乏症抗体缺乏症自发炎症是一种自发炎症.免疫调节失调免疫调节失调原发性免疫缺陷 - 一次性免疫缺陷不确定意义的变体.

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