Article

Biallelic <i>IRAK4</i> Variants Associated with Severe Neurological Autoinflammation: An Expansion of the Clinical Phenotype

2026-08-17

Abstract excerpt

<h4>Background</h4> Monogenic autoinflammatory disorders arise from genetic defects that pathologically activate innate immunity. IRAK4, a serine/threonine kinase in the Myddosome pathway, mediates IL-1 and Toll-like receptor signaling, driving proinflammatory cytokine and type I interferon responses. While biallelic loss-of-function IRAK4 variants cause an immunodeficiency, recent reports implicate biallelic I...

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Literature Corpus work: 97bafba3-e7a9-5aea-b0e7-8e9399f0fbe2
DOI: 10.64898/2026.08.14.26359722

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