Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection
oleh: Davide Eletto, Siobhan O. Burns, Ivan Angulo, Vincent Plagnol, Kimberly C. Gilmour, Frances Henriquez, James Curtis, Miguel Gaspar, Karolin Nowak, Vanessa Daza-Cajigal, Dinakantha Kumararatne, Rainer Doffinger, Adrian J. Thrasher, Sergey Nejentsev
| Format: | Article |
|---|---|
| Diterbitkan: | Nature Portfolio 2016-12-01 |
Deskripsi
JAK1 mediates intracellular signalling from multiple cytokine receptors. Here, Elettoet al. identify JAK1 mutations that disrupt multiple signalling pathways and are associated with primary immunodeficiency, atypical mycobacterial infection susceptibility and early-onset metastatic bladder carcinoma.