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Herpes simplex encephalitis in adult patients with MASP-2 deficiency
2019
PLoS Pathogens
We report here two cases of Herpes simplex virus encephalitis (HSE) in adult patients with very rare, previously uncharacterized, non synonymous heterozygous G634R and R203W substitution in mannan-binding lectin serine protease 2 (MASP2), a gene encoding a key protease of the lectin pathway of the complement system. None of the 2 patients had variants in genes involved in the TLR3-interferon signaling pathway. Both MASP2 variants induced functional defects in vitro, including a reduced (R203W)
doi:10.1371/journal.ppat.1008168
pmid:31869396
pmcid:PMC6944389
fatcat:cmopixzfenbifcqzqjlk277owi