阿什肯纳兹犹太人aicardi - gouti综合征患者33年的诊断历程

The journal of allergy and clinical immunology. Global Pub Date : 2025-05-01 Epub Date: 2025-01-03 DOI:10.1016/j.jacig.2025.100400

Oskar Schnappauf PhD , Hongying Wang PhD , Ivona Aksentijevich MD , Daniel L. Kastner MD, PhD , Ronald M. Laxer MD

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摘要

由于其相对较高的携带者频率，强调了对德系犹太人患者中SAMHD1缺失的认识和基因检测的迫切需要。早期发现可以通过靶向治疗预防严重的疾病并发症。

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A 33-year diagnostic odyssey in an Ashkenazi Jewish patient with Aicardi-Goutières syndrome

The critical need for awareness and genetic testing of the SAMHD1 deletion in Ashkenazi Jewish patients is highlighted owing to its relatively high carrier frequency. Early detection can prevent severe disease complications through targeted therapy.

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