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Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations

16 Jul 2015

Abstract excerpt

BACKGROUND: Perforin, encoded by PRF1, is a pore-forming protein crucial for lymphocyte cytotoxicity. Biallelic PRF1 nonsense mutations invariably result in early-onset hemophagocytic lymphohistiocytosis (HLH), termed familial HLH type 2 (FHL2). In contrast, biallelic PRF1 missense mutations may give rise to later-onset disease and more variable manifestations. PROCEDURE: We retrospectively searched our database...

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PMID: 26184781
DOI: 10.1002/pbc.25646

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