• Adult-Onset Ataxia with Neuropathy and White Matter Abnormalities Due to a Novel SAMD9L Variant 

      Paucar, Martin; Tesi, Bianca; Eshtad, Saeed; Eriksson, Caroline; Hashim, Farouk; Nilsson, Daniel; Pourhamidi, Kaveh; Hellström-Lindberg, Eva; Bryceson, Yenan; Svenningsson, Per (Journal article; Peer reviewed, 2021)
      Variants in tumor suppressor genes and in genes encoding DNA repairing proteins are associated with syndromes conferring neurologic features and increased risk for malignancy. The best example for these conditions is ...
    • Genetics and pathophysiology of haemophagocytic lymphohistiocytosis 

      Meeths, Marie; Bryceson, Yenan (Journal article; Peer reviewed, 2021)
      Haemophagocytic lymphohistiocytosis (HLH) represents a life-threatening hyperinflammatory syndrome. Familial studies have established autosomal and X-linked recessive causes of HLH, highlighting a pivotal role for lymphocyte ...
    • Harnessing features of adaptive NK cells to generate iPSC-derived NK cells for enhanced immunotherapy 

      Woan, Karrune V.; Kim, Hansol; Bjordahl, Ryan; Davis, Zachary B.; Gaidarova, Svetlana; Goulding, John; Hancock, Brian; Mahmood, Sajid; Abujarour, Ramzey; Wang, Hongbo; Tuininga, Katie; Zhang, Bin; Wu, Cheng-Ying; Kodal, Behiye; Khaw, Melissa; Bendzick, Laura; Rogers, Paul; Ge, Moyar Qing; Bonello, Greg; Meza, Miguel; Felices, Martin; Huffman, Janel; Dailey, Thomas; Lee, Tom T.; Walcheck, Bruce; Malmberg, Karl-Johan; Balzar, Bruce R.; Bryceson, Yenan; Valamehr, Bahram; Miller, Jeffrey S.; Cichocki, Frank (Journal article; Peer reviewed, 2021)
      Select subsets of immune effector cells have the greatest propensity to mediate antitumor responses. However, procuring these subsets is challenging, and cell-based immunotherapy is hampered by limited effector-cell ...
    • Neuroinflammation Associated With Inborn Errors of Immunity 

      Lindahl, Hannes; Bryceson, Yenan (Journal article; Peer reviewed, 2022)
      The advent of high-throughput sequencing has facilitated genotype-phenotype correlations in congenital diseases. This has provided molecular diagnosis and benefited patient management but has also revealed substantial ...
    • 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. ...