Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

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...

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Bibliographic Details
Main Authors: 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
Language:English
Published: Nature Portfolio 2016-12-01
Series:Nature Communications
Online Access:https://doi.org/10.1038/ncomms13992

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