Author

R. Rius

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Review Aug 2026

Biallelic IRAK4 Variants Associated with Severe Neurological Autoinflammation: An Expansion of the Clinical Phenotype

Six patients from five unrelated families with biallelic, rare IRAK4 variants presenting with severe, persistent autoinflammation without immunodeficiency are identified and a strongly concordant clinical and radiological phenotype emerges of IRAK4-mediated autoinflammation, expanding the phenotypic and mutational spec...

E. Wiener, R. Rius, C. D. Dominguez Gonzalez et al. · medRxiv · 0 citations

Open access Aug 2026

Challenges in Classification of PKD1 Missense Variation in Autosomal Dominant Polycystic Kidney Disease

A large majority of PKD1 missense variants are classified as VUS with current pathogenicity criteria, and commonly used silico tools, applied with established genome-wide thresholds, do not reliably distinguish pathogenic and benign missense variants in PKD1.

N. Lehmann, S. Koo, Y. Hort et al. · medRxiv · 0 citations