Article
Unexpected genetically determined immune dysregulation with liver involvement: GIMAP5 therapeutic dilemmas between targeted therapy and HSCT.
Frontiers in immunology - 1 Jan 2026
Moratti Mattia, La Manna Michele, Colucci Lucia, Cifaldi Cristina, Di Cesare Silvia, Rotulo Gioacchino Andrea, Rivalta Beatrice, Amodio Donato, Pietrobattista Andrea, Caballero-Oteyza Andrés, Lembo Elisabetta, Passarelli Chiara, Manno Emma Concetta, Proietti Michele, Di Matteo Gigliola, Palumbo Giuseppe, Cancrini Caterina
Abstract excerpt
Introduction: Biallelic loss-of-function mutations in the GTPase of immunity-associated protein 5 (GIMAP5) cause a severe syndrome characterized by altered immunity, lymphoproliferation, and progressive hepatopathy. This study aims to delineate the immunophenotypic signatures and clinical management of this deficiency by reporting the first Italian pediatric case alongside his mono-allelic carrier twin,...
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