A 21-bp deletion in the complement regulator CD55 promotor region is associated with multifocal motor neuropathy and its disease course.
Jeroen W BosEwout J N GroenHenny G OttenKevin BuddingRuben P A van EijkChantall CurialTineke Kardol-HoefnagelH Stephan GoedeeLeonard H van den BergW Ludo van der PolPublished in: Journal of the peripheral nervous system : JPNS (2024)
MMN susceptibility is associated with a 21-bp deletion in the CD55 promotor region (rs2871582), which is associated with lower CD55 expression. Patients carrying this deletion may have a more favorable long-term disease outcome. Taken together, these results point out the relevance of the pre-C5 level of the complement cascade in the inflammatory processes underlying MMN.