Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

FOXN1 is the master regulatory gene of thymic epithelium development. FOXN1 deficiency leads to thymic aplasia, alopecia, and nail dystrophy, accounting for the nude/severe combined immunodeficiency (nu/SCID) phenotype in humans and mice. We identified several newborns with low levels of T cell rece...

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Publicat a:Am J Hum Genet
Autors principals: Bosticardo, Marita, Yamazaki, Yasuhiro, Cowan, Jennifer, Giardino, Giuliana, Corsino, Cristina, Scalia, Giulia, Prencipe, Rosaria, Ruffner, Melanie, Hill, David A., Sakovich, Inga, Yemialyanava, Irma, Tam, Jonathan S., Padem, Nurcicek, Elder, Melissa E., Sleasman, John W., Perez, Elena, Niebur, Hana, Seroogy, Christine M., Sharapova, Svetlana, Gebbia, Jennifer, Kleiner, Gary Ira, Peake, Jane, Abbott, Jordan K., Gelfand, Erwin W., Crestani, Elena, Biggs, Catherine, Butte, Manish J., Hartog, Nicholas, Hayward, Anthony, Chen, Karin, Heimall, Jennifer, Seeborg, Filiz, Bartnikas, Lisa M., Cooper, Megan A., Pignata, Claudio, Bhandoola, Avinash, Notarangelo, Luigi D.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2019
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6731368/
https://ncbi.nlm.nih.gov/pubmed/31447097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2019.07.014
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