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

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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Bibliographic Details
Main Authors: Oskar Schnappauf, PhD, Hongying Wang, PhD, Ivona Aksentijevich, MD, Daniel L. Kastner, MD, PhD, Ronald M. Laxer, MD
Format: Article
Language:English
Published: Elsevier 2025-05-01
Series:Journal of Allergy and Clinical Immunology: Global
Subjects:
Aicardi-Goutières syndrome
interferonopathies
SAMHD1
genetic testing
carrier screening
copy number variation
Online Access:http://www.sciencedirect.com/science/article/pii/S2772829325000013
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