We found that genes were upregulated in BAL MNPs related to cell maturation (CD40, CD80, CD83), inflammatory response (TLR3, TLR7), cytokine signalling (TNF, IL1B, CSF1, TGFβ) and chemotaxis (CCR6, CCR7 as well as CCL2, 19 and 20) compared to blood MNPs in both non-LS patients and healthy controls (figure 2c). This evidence concerns the gene CD40 and Leigh syndrome.