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). The gene discussed is CD83; the disease is Leigh syndrome.