Partial human Janus kinase 1 deficiency predominantly impairs responses to interferon gamma and intracellular control of mycobacteria.

ABSTRACT:

Purpose

Janus kinase-1 (JAK1) tyrosine kinase mediates signaling from multiple cytokine receptors, including interferon alpha/beta and gamma (IFN-α/β and IFN-γ), which are important for viral and mycobacterial protection respectively. We previously reported autosomal recessive (AR) hypomorphic JAK1 mutations in a patient with recurrent atypical mycobacterial infections and relatively minor viral infections. This study tests the impact of partial JAK1 deficiency on cellular responses to IFNs and pathogen control.

Methods

We investigated the role of partial JAK1 deficiency using patient cells and cell models generated with lentiviral vectors expressing shRNA.

Results

Partial JAK1 deficiency impairs IFN-γ-dependent responses in multiple cell types including THP-1

SUBMITTER: Daza-Cajigal V 

PROVIDER: S-EPMC9501714 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature