Maria Chiriaco, Giorgiana Madalina Ursu, Donato Amodio, Nicola Cotugno, Stefano Volpi, Francesco Berardinelli, Simone Pizzi, Cristina Cifaldi, Matteo Zoccolillo, Ignazia Prigione, Silvia Di Cesare, Carmela Giancotta, Elisa Anastasio, Beatrice Rivalta, Lucia Pacillo, Paola Zangari, Alessandro G Fiocchi, Andrea Diociaiuti, Alessandro Bruselles, Francesca Pantaleoni, Andrea Ciolfi, Valentina D'Oria, Giuseppe Palumbo, Marco Gattorno, Maya El Hachem, Jean-Pierre de Villartay, Andrea Finocchi, Paolo Palma, Paolo Rossi, Marco Tartaglia, Alessandro Aiuti, Antonio Antoccia, Gigliola Di Matteo, Caterina Cancrini
Actin-related protein 2/3 complex subunit 1B (ARPC1B) deficiency is a recently described inborn error of immunity (IEI) presenting with combined immunodeficiency and characterized by recurrent infections and thrombocytopenia. Manifestations of immune dysregulation, including colitis, vasculitis, and severe dermatitis, associated with eosinophilia, hyper-IgA, and hyper-IgE are also described in ARPC1B-deficient patients. To date, hematopoietic stem cell transplantation seems to be the only curative option for patients...
2022: Frontiers in Immunology