Case report reveals a genetic variant causing autoinflammatory disorder in a child, suggesting a need for updated diagnosis guidelines.
Aicardi–Goutières syndrome type 6 (AGS6) is a genetically determined autoinflammatory disorder, classically inherited in an autosomal recessive manner. We report a Czech child with a heterozygous ADAR1 NM_001111.5:c.3019G>A variant causing AGS6. In silico analysis supports a dominant‐negative effect, underscoring the need to consider dominant inheritance in AGS6 diagnosis and management.
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Turan et al. (2026) studied this question.
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