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

2019; Rockefeller University Press; Volume: 216; Issue: 12 Linguagem: Inglês

10.1084/jem.20190147

1540-9538

Michael T. Lam, Simona Coppola, Oliver H.F. Krumbach, Giusi Prencipe, Antonella Insalaco, Cristina Cifaldi, Immacolata Brigida, Erika Zara, Serena Scala, Silvia Di Cesare, Simone Martinelli, Martina Di Rocco, Antonia Pascarella, Marcello Niceta, Francesca Pantaleoni, Andrea Ciolfi, Petra Netter, Alexandre F. Carisey, Michael Diehl, Mohammad Akbarzadeh, Francesca Conti, Pietro Merli, Anna Pastore, Stefano Levi Mortera, Serena Camerini, Luciapia Farina, Marcel Buchholzer, Luca Pannone, Tram N. Cao, Zeynep Coban‐Akdemir, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, Luca Basso‐Ricci, Maria Serena Chiriacò, Radovan Dvorský, Lorenza Putignani, Rita Carsetti, Petra Janning, Asbjørg Stray‐Pedersen, Hans Christian Erichsen, AnnaCarin Horne, Yenan T. Bryceson, Lamberto Torralba‐Raga, Kim Ramme, Vittorio Rosti, Claudia Bracaglia, Virginia Messia, Paolo Palma, Andrea Finocchi, Franco Locatelli, Iván K. Chinn, James R. Lupski, Emily M. Mace, Caterina Cancrini, Alessandro Aiuti, Mohammad Reza Ahmadian, Jordan S. Orange, Fabrizio De Benedetti, Marco Tartaglia,

Immune Cell Function and Interaction

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 pathophysiologies. HLH is difficult to diagnose and can be part of inflammatory syndromes. Here, we identify a novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. Patients shared the same de novo