Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4

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 an...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10516541/
https://www.ncbi.nlm.nih.gov/pubmed/37744344
http://dx.doi.org/10.3389/fimmu.2023.1231749

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