Friedrich G Kapp, Stefanie Kretschmer, Cora C A Beckmann, Lena Wäsch, Anne Molitor, Raphaël Carapito, Mario Schubert, Nadja Lucas, Solène Conrad, Sylvaine Poignant, Bertrand Isidor, Meino Rohlfs, Ayşenur Paç Kisaarslan, Denny Schanze, Martin Zenker, Annette Schmitt-Graeff, Brigitte Strahm, Anke Peters, Ayami Yoshimi, Wolfgang Driever, Thomas Zillinger, Claudia Günther, Shovamayee Maharana, Kaomei Guan, Christoph Klein, Stephan Ehl, Charlotte M Niemeyer, Ekrem Unal, Seiamak Bahram, Fabian Hauck, Min Ae Lee-Kirsch, Carsten Speckmann
C-terminal variants in CDC42 encoding cell division control protein 42 homolog underlie neonatal-onset cytopenia, autoinflammation, rash, and hemophagocytic lymphohistiocytosis (NOCARH). Pyrin inflammasome hyperactivation has been shown to contribute to disease pathophysiology. However, mortality of NOCARH patients remains high despite inflammasome-focused treatments. Here, we demonstrate in four NOCARH patients from three families that cell-intrinsic activation of type I interferon (IFN) is a previously unrecognized driver of autoinflammation in NOCARH...
September 21, 2023: Clinical Immunology: the Official Journal of the Clinical Immunology Society