Biallelic deleterious germline SH2B3 variants cause a novel syndrome of myeloproliferation and multi‐organ autoimmunity

SH2B3 is a negative regulator of multiple cytokine receptor signalling pathways in haematopoietic tissue. To date, a single kindred has been described with germline biallelic loss‐of‐function SH2B3 variants characterized by early onset developmental delay, hepatosplenomegaly and autoimmune thyroidit...

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Detalles Bibliográficos
Autores principales: Blombery, Piers, Pazhakh, Vahid, Albuquerque, Adriana S., Maimaris, Jesmeen, Tu, Lingge, Briones Miranda, Brenda, Evans, Florence, Thompson, Ella R., Carpenter, Ben, Proctor, Ian, Curtin, Julie A., Lambert, Jonathan, Burns, Siobhan O., Lieschke, Graham J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10188477/
https://www.ncbi.nlm.nih.gov/pubmed/37206266
http://dx.doi.org/10.1002/jha2.698

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