Article
Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection.
Nature communications - 23 Dec 2016
Eletto Davide, Burns Siobhan O, Angulo Ivan, Plagnol Vincent, Gilmour Kimberly C, Henriquez Frances, Curtis James, Gaspar Miguel, Nowak Karolin, Daza-Cajigal Vanessa, Kumararatne Dinakantha, Doffinger Rainer, Thrasher Adrian J, Nejentsev Sergey
Abstract excerpt
Mutations in genes encoding components of the immune system cause primary immunodeficiencies. Here, we study a patient with recurrent atypical mycobacterial infection and early-onset metastatic bladder carcinoma. Exome sequencing identified two homozygous missense germline mutations, P733L and P832S, in the JAK1 protein that mediates signalling from multiple cytokine receptors. Cells from this patient exhibit...
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