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Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment

BACKGROUND: Mutations in Janus kinase 3 (JAK3) are a cause of severe combined immunodeficiency, but hypomorphic JAK3 defects can result in a milder clinical phenotype, with residual development and function of autologous T cells. Maternal T-cell engraftment is a common finding in infants with severe...

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Dades bibliogràfiques
Publicat a:J Allergy Clin Immunol
Autors principals: Cattaneo, Federica, Recher, Mike, Masneri, Stefania, Baxi, Sachin N., Fiorini, Claudia, Antonelli, Francesca, Wysocki, Christian A., Calderon, Jose G., Eibel, Hermann, Smith, Angela R., Bonilla, Francisco A., Tsitsikov, Erdyni, Giliani, Silvia, Notarangelo, Luigi D., Pai, Sung-Yun
Format: Artigo
Idioma:Inglês
Publicat: 2013
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6141242/
https://ncbi.nlm.nih.gov/pubmed/23384681
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jaci.2012.12.667
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