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Article

One mutation, divergent journeys: expanding the clinical spectrum of homozygous SAMHD1 deficiency in childhood.

Rheumatology (Oxford, England) - 8 Jan 2026

Emreol Hülya Ercan, Ünal Dilara, Ayvaz Deniz Nazire Cagdas, Bilginer Yelda, Özen Seza

Abstract excerpt

OBJECTIVES: Homozygous loss-of-function mutations in SAMHD1 classically cause Aicardi-Goutières syndrome type 5 (AGS5), characterized by neuroinflammation and intracranial calcifications. Increasing evidence suggests a broader clinical spectrum. We aimed to describe the phenotypic heterogeneity associated with a single homozygous SAMHD1 variant in paediatric patients and to highlight diagnostic and therapeutic...

Topics

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Autoimmune Diseases of the Nervous System
Child
Exome Sequencing
Homozygote
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

Nervous System Malformations

SAM Domain and HD Domain-Containing Protein 1

Source

Open in PubMed Open full text

Identifiers

PMID: 41496005
DOI: 10.1093/rheumatology/keaf695
PMCID: PMC12798528

Genes

SAMHD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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