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Article

Paroxysmal nocturnal hemoglobinuria caused by CN-LOH of constitutional PIGB mutation and 70-kbp microdeletion on 15q.

Blood advances - 24 Nov 2020

Langemeijer Saskia, Schaap Charlotte, Preijers Frank, Jansen Joop H, Blijlevens Nicole, Inoue Norimitsu, Muus Petra, Kinoshita Taroh, Murakami Yoshiko

Abstract excerpt

Paroxysmal nocturnal hemoglobinuria (PNH) is a rare hematopoietic stem cell (HSC) disorder characterized by defective synthesis of the glycosylphosphatidylinositol (GPI) anchors as a result of somatic mutations in the X-linked PIGA gene. The disease is acquired. No constitutional PNH has been described. Here, we report familial PNH associated with unusual inflammatory symptoms. Genetic analysis revealed a...

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Identifiers

PMID: 33216889
DOI: 10.1182/bloodadvances.2020002210
PMCID: PMC7686886

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Source receipt: pubmed, retrieved 6 Sept 2026.

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