Biallelic IRAK4 Variants Associated with Severe Neurological Autoinflammation: An Expansion of the Clinical Phenotype
Emma K. Wiener, Rocío Rius, Carlos A Dominguez Gonzalez, Arastoo Vossough, Matthew T. Whitehead, Roshini Sarah Abraham, Amrita Basu, Nicole DeBruyne, Lan Lin, Benjamin L. Prosser, Alex J. Félix, Asako Takanohashi, Kathleen E. Sullivan, Devi Priyanka Maripuri, Amy Pizzino, , Adeline L. Vanderver
The paper identifies six patients with biallelic IRAK4 variants causing severe neurological autoinflammation without immunodeficiency, expanding the known phenotype of IRAK4-related disease.
medRxiv · Aug 20, 2026 · PreprintGenetic & Genomic Medicine