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一个罕见的活化PI3K三角综合征 (APDS) 病例报告:诊断陷

Mohamad Qazreen Ahmad Shawaludin^1,2, Zarina Thasneem Zainudeen³, Fahisham Taib^1,2

¹Department of Paediatrics, School of Medical Sciences, Universiti Sains Malaysia, Jalan Perempuan Zainab II, Kota Bahru, Kelantan, 16150, Malaysia.

|November 3, 2025

概括

活性PI3Kδ综合征 (APDS) 的诊断是具有挑战性的,因为重叠的症状. 早期基因检测对于识别APDS和为这种罕见的免疫缺陷提供及时,有针对性的治疗至关重要.

科学领域:

免疫学免疫学免疫学
遗传学遗传学是一个
罕见疾病罕见疾病

背景情况:

激活PI3Kδ综合征 (APDS) 是一种罕见的免疫遗传错误,具有不同的临床表现,包括感染,淋巴增殖和自身免疫.
在PI3Kδ途径的突变导致APDS,导致功能获取 (APDS1) 或功能丧失 (APDS2) 现型.
恶性病,特别是淋巴瘤,是一种严重的并发症,APDS经常被误诊为综合免疫缺陷.

研究的目的:

突出与APDS相关的诊断挑战.
强调早期基因检测在诊断APDS中的重要性.
讨论目前和潜在的APDS管理策略.

主要方法:

一个12岁男孩的病例报告,患有复发性感染和淋巴腺病.
最初的免疫学评估表明结合性免疫缺陷.
基因检测发现了PIK3CD突变,证实了APDS1.

主要成果:

该患者出现了复发性呼吸道和耳部感染,淋巴腺病变,肝炎,肝缩和血小板狭窄症.
尽管最初的诊断错误,但基因调查证实了APDS1.1.
患者开始接受免疫球蛋白替代疗法,并对进一步治疗进行评估.

结论:

在APDS的诊断延迟可能源于重叠的临床特征和外部因素,如成本和父母的决定.
早期遗传测试对于准确的APDS诊断和及时管理至关重要.
适当的管理包括免疫抑制疗法,向治疗和潜在的造血干细胞移植.

关键词:

活性PI3K三角体综合征超高IgM综合征是什么意思免疫的天生的错误.主要免疫缺陷是一个主要的免疫缺陷.复发性感染复发性感染

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