Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI)

► The Finnish LPI mutation in SLC7A7 results in a multitude of transcriptomic changes. ► The IPA analysis revealed pathways related to immune response and inflammation. ► SLC3A2 transcription changes correlate with those of SLC7A7, SLC7A5 and SLC1A5. ► The Finnish LPI patients have considerably reduced proportions of activated T cells.