Type I and type III interferons (IFNs) play a key role in host defense on the one hand, but on the other hand they can contribute to the pathogenesis of auto-immune and auto-inflammatory diseases. For example, type I and III IFNs are major drivers of interferonopathies, a group of debilitating diseases predominantly affecting young women and causing substantial long-term, multi-organ morbidity and high mortality. Examples include systemic lupus erythematosus (SLE), dermatomyositis, systemic sclerosis and Sjoegren’s syndrome. Although type I and III IFNs can be induced in multiple ways, activation by pattern recognition receptors (PRRs) is the central pathogenetic pathway in interferonopathies. Therefore, targeted therapies to regulate this PRR-IFN axis are highly sought-after.
Here, we identify interleukin (IL)-38, an IL-1 family member, as the first known endogenous inhibitor of this PRR-IFN axis. In pre-clinical models of SLE such as deficiency of the kinase Lyn, knockout of IL-38 augmented IFN-driven inflammation, including up to 8-fold increases in the IFN-signature genes Irf7, Rsad2 and Oas3 and in the SLE-related pro-inflammatory cytokines IL-6, IL-23, CCL2 and IFNβ itself. IL-38-deficiency also aggravated SLE-like disease activity, including kidney damage. Accordingly, injection of recombinant IL-38 ameliorated inflammation induced by imiquimod, an agonist of the SLE-relevant PRR Toll-like receptor (TLR)7, including reductions in IFNα, IFNβ, IFNγ, IFNλ and IL-6 by up to 98%.
To decipher signaling mechanisms, we performed experiments in multiple cell lines deficient in pathway intermediates of the PRR-IFN axis. Furthermore, we found that IL-38 can form a domain-swapped homodimer – a property that is novel in the IL-1 cytokine family and rare in cytokine biology overall. Such dimerization attenuated IL-38 activity, while a naturally occurring single nucleotide polymorphism prevented dimerization, thereby increasing IL-38 bioactivity.
In summary, our study identifies monomeric IL-38 as a promising therapeutic with a novel and differentiated mechanism-of-action, brightening the outlook for millions of patients worldwide suffering from diseases with pathological IFN involvement such as SLE and other interferonopathies.