Article
Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.
Frontiers in immunology - 1 Jan 2023
Cooray Samantha, Price-Kuehne Fiona, Hong Ying, Omoyinmi Ebun, Burleigh Alice, Gilmour Kimberly C, Ahmad Bilal, Choi Sangdun, Bahar Mohammad W, Torpiano Paul, Gagunashvili Andrey, Jensen Barbara, Bellos Evangelos, Sancho-Shimizu Vanessa, Herberg Jethro A, Mankad Kshitij, Kumar Atul, Kaliakatsos Marios, Worth Austen J J, Eleftheriou Despina, Whittaker Elizabeth, Brogan Paul A
Abstract excerpt
We describe a novel, severe autoinflammatory syndrome characterized by neuroinflammation, systemic autoinflammation, splenomegaly, and anemia (NASA) caused by bi-allelic mutations in IRAK4. IRAK-4 is a serine/threonine kinase with a pivotal role in innate immune signaling from toll-like receptors and production of pro-inflammatory cytokines. In humans, bi-allelic mutations in IRAK4 result in IRAK-4 deficiency and...
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