Neuroimaging Findings and Treatment Update for Neuroinflammation, Autoinflammation, Splenomegaly, and Anemia, a Novel Autoinflammatory Disorder Caused by Bi-Allelic Variants in IRAK4.

Abstract excerpt

Neuroinflammation, autoinflammation, splenomegaly, and anemia (NASA) is a newly described autoinflammatory disorder caused by bi-allelic variants in the interleukin receptor-associated kinase 4 gene, IRAK4. Since our first description of the disorder in 2023, we now report that all 5 cases from 2 unrelated kindreds have developed severe neuroinflammation that is resistant to systemic immunosuppressive treatment....

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