ArticleCureus2026
Severe Antenatal Presentation of a Novel Dnase2 Mutation in a Preterm Omani Neonate: Expanding the Clinical Spectrum of an Ultra-Rare Interferonopathy.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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5 authors.
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Abstract
Dnase2 deficiency is an ultra-rare type I interferonopathy resulting from impaired intracellular DNA degradation, leading to neonatal cytopenias and systemic inflammation. Whole-exome sequencing enables definitive diagnosis, and Janus kinase inhibitors have emerged as targeted immunomodulatory therapy. This report describes a preterm infant with an early and severe presentation of DNASE2 deficiency, manifesting antenatally with fetal hydrops, intrauterine growth restriction, and cardiomyopathy. Postnatally, the infant developed persistent pancytopenia, hepatosplenomegaly, cholestatic jaundice, and hemophagocytic lymphohistiocytosis-like features, including marked hyperferritinemia. Whole-exome sequencing identified two novel heterozygous pathogenic variants in the
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