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

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...

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