A rare cause of immune dysregulation, prolidase deficiency: a case report and review of the literature

Baysal Bakır et al. (2024) used Genomize-SEQ to identify a rare genetic enzyme deficiency (prolidase deficiency) in a teenager who had been presenting for years with lupus-like symptoms, recurrent infections, and skin ulcers, highlighting how genomic sequencing can resolve complex diagnostic cases that mimic more common autoimmune diseases.