Spectrum of Atypical Clinical Presentations in Patients with Biallelic PRF1 Missense Mutations
Pediatric Blood & Cancer2015Vol. 62(12), pp. 2094–2100
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Bianca Tesi, Samuel C. C. Chiang, Dalia El‐Ghoneimy, Ayad Ahmed Hussein, Cecilia Langenskiöld, Rabia Wali, Zehra Fadoo, João Silva, Ramón Lecumberri, Şule Ünal, Magnus Nordenskjöld, Yenan T. Bryceson, Jan‐Inge Henter, Marie Meeths
Abstract
Our findings substantiate and expand the spectrum of clinical presentations of perforin deficiency, linking PRF1 missense mutations to lymphoma susceptibility and highlighting clinical variability within families. PRF1 mutations should, therefore, be considered as a cause of several diseases disparate to HLH.
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