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Article

Aicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.

Clinical immunology (Orlando, Fla.) - 1 Apr 2026

Li Yuhan, Ying Songcheng

Abstract excerpt

Aicardi-Goutières Syndrome (AGS) is a rare monogenic autoinflammatory disorder primarily affecting the central nervous system. It is characterized by elevated levels of type I interferon (IFN-I) in the cerebrospinal fluid. Mutations in SAMHD1 gene cause AGS type 5. The primary function of SAMHD1 is to maintain genome stability by regulating the dNTP pool through its enzymatic activity. This review comprehensively...

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Identifiers

PMID: 41666947
DOI: 10.1016/j.clim.2026.110680

Genes

SAMHD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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