SAETTINI, FRANCESCO
SAETTINI, FRANCESCO
DIPARTIMENTO DI MEDICINA E CHIRURGIA (SCHOOL OF MEDICINE AND SURGERY)
Biallelic PI4KA Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia
2025 Saettini, F; Guerra, F; Mauri, M; Salter, C; Adam, M; Adams, D; Baple, E; Barredo, E; Bhatia, S; Borkhardt, A; Brusco, A; Bugarin, C; Chinello, C; Crosby, A; D'Souza, P; Denti, V; Fazio, G; Giuliani, S; Kuehn, H; Amel, H; Elmi, A; Lo, B; Malighetti, F; Mandrile, G; Martín-Nalda, A; Mefford, H; Moratto, D; Emam Mousavi, F; Nelson, Z; Gutiérrez-Solana, L; Macnamara, E; Michaud, V; O'Leary, M; Pagani, L; Pavinato, L; Santamaria, P; Planas-Serra, L; Quadri, M; Raspall-Chaure, M; Rebellato, S; Rosenzweig, S; Roubertie, A; Holzinger, D; Deal, C; Vockley, C; Savino, A; L. Stoddard, J; Uhlig, H; Pujol, A; Magni, F; Paglia, G; Cazzaniga, G; Piazza, R; Barberis, M; Biondi, A
Bone Marrow CD8 + Abundance Inversely Correlates with Progressive Marrow Fibrosis and Myelodysplastic Evolution in GATA2 Deficiency: Case Report
2025 Vendemini, F; Roncareggi, S; L'Imperio, V; Guerra, F; Mottadelli, F; Chiarini, M; Maglia, O; Sala, S; Fazio, G; Piazza, R; Bonanomi, S; Biondi, A; Saettini, F
Antibody Deficiency in Patients with Biallelic KARS1 Mutations
2023 Saettini, F; Guerra, F; Fazio, G; Bugarin, C; Mcmillan, H; Ohtake, A; Ardissone, A; Itoh, M; Giglio, S; Cappuccio, G; Giardino, G; Romano, R; Quadri, M; Gasperini, S; Moratto, D; Chiarini, M; Akira, I; Fukuhara, Y; Hayakawa, I; Okazaki, Y; Mauri, M; Piazza, R; Cazzaniga, G; Biondi, A
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations (Journal of Clinical Immunology, (2023), 43, 8, (2115-2125), 10.1007/s10875-023-01584-7)
2023 Saettini, F; Guerra, F; Fazio, G; Bugarin, C; Mcmillan, H; Ohtake, A; Ardissone, A; Itoh, M; Giglio, S; Cappuccio, G; Giardino, G; Romano, R; Quadri, M; Gasperini, S; Moratto, D; Chiarini, M; Ishiguro, A; Fukuhara, Y; Hayakawa, I; Okazaki, Y; Mauri, M; Piazza, R; Cazzaniga, G; Biondi, A
Finding balance between mature and immature neutrophils: The effects of empagliflozin in GSD-Ib
2023 Guerra, F; Gasperini, S; Bonanomi, S; Crescitelli, V; Pretese, R; Da Dalt, L; Norata, G; Balzarini, M; Biondi, A; Baragetti, A; Saettini, F
Isolated leukopenia in children and adolescents referred to a Pediatric Hematology Clinic
2023 Saettini, F; Bonanomi, S; Orlandi, S; Biondi, A; Balduzzi, A; Coliva, T
SYNDROMES, GENETICS AND IMMUNOLOGY: FROM THE BEGINNING OF THE END TO THE END OF THE BEGINNING [Sindromi, genetica e immunologia: dall'inizio della fine alla fine dell'inizio]
2023 Guerra, F; Saettini, F; Biondi, A
Abnormal B-Cell Maturation and Increased Transitional B Cells in CBL Syndrome
2022 Saettini, F; Coliva, T; Vendemini, F; Galbiati, M; Bugarin, C; Masetti, R; Moratto, D; Chiarini, M; Guerra, F; Iascone, M; Badolato, R; Cazzaniga, G; Niemeyer, C; Flotho, C; Biondi, A
Identical EP300 variant leading to Rubinstein–Taybi syndrome with different clinical and immunologic phenotype
2022 Saettini, F; Fazio, G; Bonati, M; Moratto, D; Massa, V; Di Fede, E; Castiglioni, S; Marchetti, D; Chiarini, M; Sottini, A; Iascone, M; Cazzaniga, G; Imberti, L; Biondi, A; Gervasini, C; Badolato, R
Pediatric immune myelofibrosis (PedIMF) as a novel and distinct clinical pathological entity
2022 Guerra, F; L'Imperio, V; Bonanomi, S; Spinelli, M; Coliva, T; Dell'Acqua, F; Ferrari, G; Corti, P; Balduzzi, A; Biondi, A; Pagni, F; Saettini, F
Secondary hemophagocytic lymphohystiocytosis in a Rubinstein Taybi syndrome patient
2022 Saettini, F; Radaelli, S; Ocello, L; Ferrari, G; Corti, P; Dell'Acqua, F; Ippolito, D; Foresti, S; Gervasini, C; Badolato, R; Biondi, A
A novel germline mutation of ada2 gene in two “discordant” homozygous female twins affected by adenosine deaminase 2 deficiency: Description of the bone-related phenotype
2021 Vai, S; Marin, E; Cosso, R; Saettini, F; Bonanomi, S; Cattoni, A; Chiodini, I; Persani, L; Falchetti, A
A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2
2021 Saettini, F; Castelli, I; Provenzi, M; Fazio, G; Quadri, M; Cazzaniga, G; Sala, S; Dell'Acqua, F; Sieni, E; Coniglio, M; Pezzoli, L; Iascone, M; Vendemini, F; Balduzzi, A; Biondi, A; Rizzari, C; Bonanomi, S
Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency
2021 Saettini, F; Poli, C; Vengoechea, J; Bonanomi, S; Orellana, J; Fazio, G; Rodriguez III, F; Noguera, L; Booth, C; Jarur-Chamy, V; Shams, M; Iascone, M; Vukic, M; Gasperini, S; Quadri, M; Seijas, A; Rivers, E; Mauri, M; Badolato, R; Cazzaniga, G; Bugarin, C; Gaipa, G; Kroes, W; Moratto, D; van Oostaijen-Ten Dam, M; Baas, F; van der Maarel, S; Piazza, R; Coban-Akdemir, Z; Lupski, J; Yuan, B; Chinn, I; Daxinger, L; Biondi, A
Case Report: Hypomorphic Function and Somatic Reversion in DOCK8 Deficiency in One Patient With Two Novel Variants and Sclerosing Cholangitis
2021 Saettini, F; Fazio, G; Moratto, D; Galbiati, M; Zucchini, N; Ippolito, D; Dinelli, M; Imberti, L; Mauri, M; Melzi, M; Bonanomi, S; Gerussi, A; Pinelli, M; Barisani, C; Bugarin, C; Chiarini, M; Giacomelli, M; Piazza, R; Cazzaniga, G; Invernizzi, P; Giliani, S; Badolato, R; Biondi, A
Primary immunodeficiencies, autoimmune hyperthyroidism, coeliac disease and systemic lupus erythematosus in childhood immune thrombocytopenia
2021 Saettini, F; Cattoni, A; Redaelli, M; Silvestri, D; Ferrari, G; Biondi, A; Jankovic, M; Spinelli, M
Severe and recurrent infections identify severe congenital neutropenia and primary immunodeficiencies in pediatric isolated neutropenia
2021 Saettini, F; Mantovani, P; De Lorenzo, P; Biondi, A; Bonanomi, S
When to suspect GATA2 deficiency in pediatric patients: from complete blood count to diagnosis
2021 Saettini, F; Coliva, T; Vendemini, F; Moratto, D; Savoldi, G; Borlenghi, E; Masetti, R; Niemeyer, C; Biondi, A; Balduzzi, A; Bonanomi, S
Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman–Diamond-like syndrome
2020 Saettini, F; Cattoni, A; D'Angiò, M; Corti, P; Maitz, S; Pagni, F; Seminati, D; Pezzoli, L; Iascone, M; Biondi, A; Bonanomi, S
More than an ‘atypical’ phenotype: dual molecular diagnosis of autoimmune lymphoproliferative syndrome and Becker muscular dystrophy
2020 Saettini, F; L'Imperio, V; Fazio, G; Cazzaniga, G; Mazza, C; Moroni, I; Badolato, R; Biondi, A; Corti, P