Review

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

E. Wiener R. Rius C. D. Dominguez Gonzalez A. Vossough M. Whitehead R. Abraham A. Basu N. DeBruyne L. Lin B. Prosser A. J. Felix A. Takanohashi K. Sullivan D. P. Maripuri K. Arnold A. Pizzino A. Bryan F. Gavazzi M. Bennett S. E. Hopkins B. Banwell L. Higdon K. Graveran-Perez C. Toback M. Sperling C. Gurnett N. Hamilton C. Bryant S. Canna E. Behrens C. Simons A. Vanderver

Aug 2026 · medRxiv · 0 citations

Medicine

TL;DR

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 spectrum of IRAK4 related disease.

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