A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2

Pediatr Hematol Oncol. 2021 Mar;38(2):174-178. doi: 10.1080/08880018.2020.1793849. Epub 2020 Jul 22.

F Saettini¹, I Castelli¹, M Provenzi², G Fazio³, M Quadri³, G Cazzaniga^{3

4}, S Sala³, F Dell'Acqua¹, E Sieni⁵, M L Coniglio⁵, L Pezzoli⁶, M Iascone⁶, F Vendemini¹, A C Balduzzi¹, A Biondi^{1

3}, C Rizzari¹, S Bonanomi¹

¹ Pediatric Hematology-Oncology Unit, Department of Pediatrics, University of Milano-Bicocca, MBBM Foundation, Monza, Italy.
² Pediatric Unit, Hospital Papa Giovanni XXIII, Bergamo, Italy.
³ Centro Ricerca Tettamanti, University of Milan Bicocca, Monza, Italy.
⁴ Department of Medicine and Surgery, University of Milan Bicocca, Monza, Italy.
⁵ Department of Paediatric Oncohematology, Meyer Children's University Hospital, Florence, Italy.
⁶ Molecular Genetics Laboratory, USSD LGM, Papa Giovanni XXIII Hospital, Bergamo, Italy.

No abstract available

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