• 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 ...
    • Unperturbed cytotoxic lymphocyte phenotype and function in myalgic encephalomyelitis/chronic fatigue syndrome patients 

      Theorell, Jakob; Bileviciute-Ljungar, Indre; Tesi, Bianca; Schlums, Heinrich; Johnsgaard, Mette Sophie; Asadi-Azarbaijani, Babak; Strand, Elin Bolle; Bryceson, Yenan (Peer reviewed; Journal article, 2017-06-26)
      Myalgic encephalomyelitis or chronic fatigue syndrome (ME/CFS) is a debilitating disorder linked to diverse intracellular infections as well as physiological stress. Cytotoxic lymphocytes combat intracellular infections. ...