Stefano Giardino, Stefano Volpi, Federica Lucioni, Roberta Caorsi, Jennifer Schneiderman, Abigail Lang, Amer Khojah, Taco Kuijpers, Ionanna Papadatou, Anna Paisiou, Laura Alonso, Ansgar Schulz, Nufar Marcus, Marco Gattorno, Maura Faraci
Mutations in the ARPC1B isoform component of human actin-related protein 2/3 complex have been recently associated with an inborn error of immunity characterized by combined immunodeficiency, allergies, autoinflammation, and platelet abnormalities. Currently, indications on the management of this novel disease and information on its outcome are lacking. We report the first case series of 7 children with a homozygous mutation in ARPC1B gene who underwent allogeneic-HSCT (allo-HSCT). All patients presented an early clinical onset, characterized by recurrent infections, failure to thrive and gastrointestinal bleeding episodes complicated with neonatal hemorrhagic enteritis in 3 cases, and macrophage activating syndrome in 2...
June 29, 2022: Journal of Clinical Immunology