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International Journal of Molecular Sciences|May 27, 2026
A Gut Feeling: An Exploratory Multi-Omics Study of Gut Microbiome Dysbiosis and Metabolome and Lipidome Alterations in GATA2 DeficiencySamuele Roncareggi, Francesca Fioredda, Katia Girardi, et al.Journal of Clinical Immunology|September 28, 2023
Antibody Deficiency in Patients with Biallelic KARS1 MutationsFrancesco Saettini, Fabiola Guerra, Grazia Fazio, et al.Frontiers in Immunology|May 3, 2021
Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing CholangitisFrancesco Saettini, Grazia Fazio, Daniele Moratto, et al.Journal of Clinical Immunology|April 27, 2024
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)Linda Rossini, Silvia Ricci, Davide Montin, et al.Immunity|February 1, 2024
Small-molecule CBP/p300 histone acetyltransferase inhibition mobilizes leukocytes from the bone marrow via the endocrine stress responseNikolai P Jaschke, Dorit Breining, Maura Hofmann, et al.Journal of Clinical Immunology|October 14, 2023
A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype AssociationSamuele Roncareggi, Katia Girardi, Francesca Fioredda, et al.Journal of Clinical Medicine|October 21, 2020
Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of PatientsGiulio Tessarin, Stefano Rossi, Manuela Baronio, et al.Frontiers in Immunology|October 17, 2022
Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiencyFederica Barzaghi, Maria Pia Cicalese, Matteo Zoccolillo, et al.Frontiers in Immunology|July 22, 2025
Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohortBenedetta Elena Di Majo, Chiara Leoni, Eleonora Cartisano, et al.Brain : a Journal of Neurology|August 20, 2021
Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophyEdgard Verdura, Agustí Rodríguez-Palmero, Valentina Vélez-Santamaria, et al.Pageof 4