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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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Hoofdauteurs: Oskar Schnappauf, PhD, Hongying Wang, PhD, Ivona Aksentijevich, MD, Daniel L. Kastner, MD, PhD, Ronald M. Laxer, MD
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Elsevier 2025-05-01
Reeks:Journal of Allergy and Clinical Immunology: Global
Onderwerpen:
Aicardi-Goutières syndrome
interferonopathies
SAMHD1
genetic testing
carrier screening
copy number variation
Online toegang:http://www.sciencedirect.com/science/article/pii/S2772829325000013
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