Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

Autor: 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
Jazyk: angličtina
Rok vydání: 2016
Předmět:
Zdroj: Nature Communications, Vol 7, Iss 1, Pp 1-12 (2016)
Druh dokumentu: article
ISSN: 2041-1723
DOI: 10.1038/ncomms13992
Popis: 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.
Databáze: Directory of Open Access Journals