FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome

Pathogenic FOXP3 variants cause immune dysregulation polyendocrinopathy enteropathy X-linked (IPEX) syndrome, a progressive autoimmune disease resulting from disruption of the regulatory T cell (Treg) compartment. Assigning pathogenicity to novel variants in FOXP3 is challenging due to the heterogen...

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Detalles Bibliográficos
Autores principales: Wyatt, Rebecca C., Olek, Sven, De Franco, Elisa, Samans, Bjoern, Patel, Kashyap, Houghton, Jayne, Walter, Steffi, Schulze, Janika, Bacchetta, Rosa, Hattersley, Andrew T., Flanagan, Sarah E., Johnson, Matthew B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957900/
https://www.ncbi.nlm.nih.gov/pubmed/36600150
http://dx.doi.org/10.1007/s10875-022-01428-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9957900/
https://www.ncbi.nlm.nih.gov/pubmed/36600150
http://dx.doi.org/10.1007/s10875-022-01428-w

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