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

ABSTRACT: 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.

SUBMITTER: Schnappauf O 

PROVIDER: S-EPMC11791129 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature