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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Detalhes bibliográficos
Publicado no:J Clin Invest
Main Authors: 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
Idioma:Inglês
Publicado em: American Society for Clinical Investigation 2019
Assuntos:
Research Article
Acesso em linha: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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