Article
Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment.
The Journal of allergy and clinical immunology - 1 Apr 2013
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
Abstract excerpt
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 combined immunodeficiency but is not typically observed in patients with residual T-cell development. OBJECTIVE: We...
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