FOXN1 compound heterozygous mutations cause selective thymic hypoplasia in humans

We report on 2 patients with compound heterozygous mutations in forkhead box N1 (FOXN1), a transcription factor essential for thymic epithelial cell (TEC) differentiation. TECs are critical for T cell development. Both patients had a presentation consistent with T(–/lo)B(+)NK(+) SCID, with normal ha...

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Publicado en:J Clin Invest
Autores principales: Du, Qiumei, Huynh, Larry K., Coskun, Fatma, Molina, Erika, King, Matthew A., Raj, Prithvi, Khan, Shaheen, Dozmorov, Igor, Seroogy, Christine M., Wysocki, Christian A., Padron, Grace T., Yates, Tyler R., Markert, M. Louise, de la Morena, M. Teresa, van Oers, Nicolai S.C.
Formato: Artigo
Lenguaje:Inglês
Publicado: American Society for Clinical Investigation 2019
Materias:
Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6819092/
https://ncbi.nlm.nih.gov/pubmed/31566583
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI127565
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