Case Report: Intestinal Nodular Lymphoid Hyperplasia as First Manifestation of Activated PI3Kδ Syndrome Due to a Novel PIK3CD Variant

by Antonio Marzollo, Antonio Marzollo, Silvia Bresolin, Silvia Bresolin, Davide Colavito, Alice Cani, Paola Gaio, Luca Bosa, Claudia Mescoli, Linda Rossini, Federica Barzaghi, Giorgio Perilongo, Alberta Leon, Alessandra Biffi, Mara Cananzi
Published 2021-10-01

Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease

by Luca Bosa, Vritika Batura, Davide Colavito, Karoline Fiedler, Paola Gaio, Conghui Guo, Qi Li, Antonio Marzollo, Claudia Mescoli, Ryusuke Nambu, Jie Pan, Giorgio Perilongo, Neil Warner, Shiqi Zhang, Daniel Kotlarz, Christoph Klein, Scott B. Snapper, Thomas D. Walters, Alberta Leon, Anne M. Griffiths, Mara Cananzi, Aleixo M. Muise
Published 2021-03-01