ImmunologybioRxiv
Characterization of novel TMEM173 mutation with additive IFIH1 risk allele
S. Keskitalo, E. Haapaniemi, E. Einarsdottir…·M. Varjosalo
The paper reports a novel gain-of-function TMEM173 mutation and its additive effects with IFIH1 risk allele on clinical phenotype in a multigeneration family.
DOI 10.3389/fimmu.2019.02770