Browsing Bergen Open Research Archive by Author "Torralba-Raga, Lamberto"

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    • A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function 

      Lam, M.; Coppola, S.; Krumbach, Oliver H.F.; Prencipe, Giuseppe; Insalaco, Antonella; Cifaldi, C.; Brigida, I.; Zara, Erika; Scala, Serena; Di Cesare, Silvia; Martinelli, Simone; Di Rocco, Martina; Pascarella, Antonia; Niceta, Marcello; Pantaleoni, Francesca; Ciolfi, Andrea; Netter, Petra; Carisey, Alexandre; Diehl, Michael; Akbarzadeh, Mohammad; Conti, Francesca; Merli, Pietro; Pastore, Anna; Mortera, Stefano Levi; Camerini, Serena; Farina, L; Buchholzer, Marcel; Pannone, L.; Cao, T.; Coban-Akdemir, Zeynep H.; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.; Basso-Ricci, L.; Chiriaco, M.; Dvorsky, Radovan; Putignani, L.; Carsetti, Rita; Janning, Petra; Stray-Pedersen, Asbjørg; Erichsen, Hans Christian; Horne, AnnaCarin; Bryceson, Yenan; Torralba-Raga, Lamberto; Ramme, Kim; Rosti, Vittorio; Bracaglia, Claudia; Messia, Virginia; Palma, Paolo; Finocchi, Andrea; Lupski, James R. (Peer reviewed; Journal article, 2019)
      Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated with a variable clinical spectrum having overlap with more common ...

    • Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding 

      Zondag, Timo C. E.; Torralba-Raga, Lamberto; Van Laar, Jan A. M.; Hermans, Maud A. W.; Bouman, Arjen; Hollink, Iris H. I. M.; Van Hagen, P. Martin; Briggs, Deborah A.; Hume, Alistair N.; Bryceson, Yenan (Journal article; Peer reviewed, 2022)
      Autosomal recessive mutations in RAB27A are associated with Griscelli syndrome type 2 (GS2), characterized by hypopigmentation and development of early-onset, potentially fatal hemophagocytic lymphohistiocytosis (HLH). We ...