Paroxysmal nocturnal hemoglobinuria without GPI-anchor deficiency

Research output: Contribution to journalReview article

Abstract

Paroxysmal nocturnal hemoglobinuria (PNH) is an acquired disorder characterized by hemolysis, thrombosis, and bone marrow failure caused by defective expression of glycosylphosphatidylinositol-anchored (GPI-anchored) complement inhibitors. Most commonly, PNH is caused by loss of function of PIGA, which is required for GPI biosynthesis. In this issue of the JCI, Höchsmann et al. report on 4 PNH patients who also had marked autoinflammatory manifestations, including aseptic meningitis. All 4 patients had a germline mutation of the related gene PIGT and a somatically acquired myeloid common deleted region (CDR) on chromosome 20q that deleted the second PIGT allele. The biochemistry and clinical manifestations indicate that these patients have subtle but important differences from those with PNH resulting from PIGA mutations, suggesting PIGT-PNH may be a distinct clinical entity.

Original languageEnglish (US)
Pages (from-to)5074-5076
Number of pages3
JournalJournal of Clinical Investigation
Volume129
Issue number12
DOIs
StatePublished - Dec 2 2019

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ASJC Scopus subject areas

  • Medicine(all)

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