The Adaptive Immune System: A New Pseudoxanthoma Elasticum Protagonist?

Research output: Contribution to journalComment/debatepeer-review

Abstract / Description of output

A lterations in ABCC6 underpin pseudoxanthoma elasticum (PXE), a
rare heritable disorder characterized by the degeneration of elastic fibers in the
skin, eyes, and cardiovascular system. Given that ABCC6 is predominantly
expressed in hepatocytes, research over the past 2 decades has traditionally
focused on a liver-centric hypothesis underpinning PXE. However, an alternate cellular hypothesis in which resident cells in affected tissues play a prominent role has recently gained traction. Using a multipronged approach through histological, molecular, and pathological assessment, the study by Brampton et al (2024) highlights for the first time a direct contribution of bone marrowe derived ABCC6, revealing a new axis through which immune cells dramatically influence the development of the calcification phenotype in PXE. These exciting data suggest that the liver may not be the single central tissue orchestrating the pathophysiology of PXE and provide impactful information that notably advance our understanding of ABCC6 biology.
Original languageEnglish
Pages (from-to)1-3
Number of pages3
JournalJournal of Investigative Dermatology
Early online date10 Apr 2024
Publication statusE-pub ahead of print - 10 Apr 2024

Keywords / Materials (for Non-textual outputs)

  • ABCC6
  • Calcification
  • GACI
  • Lymphocyte
  • PXE


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