SAETTINI, FRANCESCO
SAETTINI, FRANCESCO
DIPARTIMENTO DI MEDICINA E CHIRURGIA (SCHOOL OF MEDICINE AND SURGERY)
Ruptured hepatoblastoma: A case report and literature review
2013 Saettini, F; Conter, V; Da Dalt, L; Perilongo, G; Hasegawa, D; Giraldi, E; Cavalleri, L; Foglia, C; D'Antiga, L; Provenzi, M
Is multifocality a prognostic factor in childhood hepatoblastoma?
2014 Saettini, F; Conter, V; Provenzi, M; Rota, M; Giraldi, E; Foglia, C; Cavalleri, L; D'Antiga, L
Early diagnosis of PI3Kδ syndrome in a 2 years old girl with recurrent otitis and enlarged spleen
2017 Saettini, F; Pelagatti, M; Sala, D; Moratto, D; Giliani, S; Badolato, R; Biondi, A
A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency
2018 Saettini, F; Moratto, D; Grioni, A; Maitz, S; Iascone, M; Rizzari, C; Pavan, F; Spinelli, M; Bettini, L; Biondi, A; Badolato, R
Neutropenia, hypogammaglobulinemia, and pneumonia: A case of WHIM syndrome
2018 Saettini, F; Notarangelo, L; Biondi, A; Bonanomi, S
Hermansky-Pudlak syndrome type II and lethal hemophagocytic lymphohistiocytosis: Case description and review of the literature
2019 Dell'Acqua, F; Saettini, F; Castelli, I; Badolato, R; Notarangelo, L; Rizzari, C
Clinical features of Epstein-Barr virus infection in primary immunodeficiency patients
2019 Zunica, F; Saettini, F; Biondi, A; Badolato, R
Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations
2020 Saettini, F; Fazio, G; Corti, P; Quadri, M; Bugarin, C; Gaipa, G; Penco, F; Moratto, D; Chiarini, M; Baronio, M; Gazzurelli, L; Imberti, L; Paghera, S; Giliani, S; Cazzaniga, G; Plebani, A; Badolato, R; Lougaris, V; Gattorno, M; Biondi, A
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
Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients
2020 Saettini, F; Herriot, R; Prada, E; Nizon, M; Zama, D; Marzollo, A; Romaniouk, I; Lougaris, V; Cortesi, M; Morreale, A; Kosaki, R; Cardinale, F; Ricci, S; Dominguez-Garrido, E; Montin, D; Vincent, M; Milani, D; Biondi, A; Gervasini, C; Badolato, R
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
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
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
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
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
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
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
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