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Scopus Author ID: 55838764300

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Works (40)

Biallelic <i>PI4KA</i> Mutations Disrupt B-Cell Metabolism and Cause B-Cell Lymphopenia and Hypogammaglobulinemia

Journal of Clinical Immunology
2025 | Journal article
DOI: 10.1007/S10875-024-01793-8
WOSUID: WOS:001320768600002
Contributors: Saettini, Francesco; Guerra, Fabiola; Mauri, Mario; Salter, Claire G.; Adam, Margaret P.; Adams, David; Baple, Emma L.; Barredo, Estibaliz; Bhatia, Sanil; Borkhardt, Arndt et al.
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Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation

Journal of Clinical Investigation
2024 | Journal article
DOI: 10.1172/JCI181604
WOSUID: WOS:001342389200001
Contributors: Bohlen, Jonathan; Bagaric, Ivan; Vatovec, Taja; Ogishi, Masato; Ahmed, Syed F.; Cederholm, Axel; Buetow, Lori; Sobrino, Steicy; Le Floc'h, Corentin; Arango-Franco, Carlos A. et al.
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Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement

Journal of Medical Genetics
2024 | Journal article
DOI: 10.1136/JMG-2023-109438
WOSUID: WOS:001186503100001
Contributors: Lacombe, Didier; Bloch-Zupan, Agnes; Bredrup, Cecilie; Cooper, Edward B.; Houge, Sofia Douzgou; Garcia-Minaur, Sixto; Kayserili, Hulya; Larizza, Lidia; Gonzalez, Vanesa Lopez; Menke, Leonie A. et al.
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Diagnosis and management of acquired aplastic anemia in childhood. Guidelines from the Marrow Failure Study Group of the Pediatric Haemato-Oncology Italian Association (AIEOP)

Blood Cells, Molecules, and Diseases
2024 | Journal article
DOI: 10.1016/J.BCMD.2024.102860
WOSUID: WOS:001275845300001
Contributors: Guarina, A.; Farruggia, P.; Mariani, E.; Saracco, P.; Barone, A.; Onofrillo, D.; Cesaro, S.; Angarano, R.; Barberi, W.; Bonanomi, S. et al.
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Web of Science Researcher Profile Sync

Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)

Journal of Clinical Immunology
2024 | Journal article
DOI: 10.1007/S10875-024-01676-Y
WOSUID: WOS:001210931800002
Contributors: Rossini, Linda; Ricci, Silvia; Montin, Davide; Azzari, Chiara; Gambineri, Eleonora; Tellini, Marco; Conti, Francesca; Pession, Andrea; Saettini, Francesco; Naviglio, Samuele et al.
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Late-onset and long-lasting neutropenias in the young: A new entity anticipating immune-dysregulation disorders

American Journal of Hematology
2024 | Journal article
DOI: 10.1002/AJH.27221
WOSUID: WOS:001150911900001
Contributors: Fioredda, F.; Beccaria, A.; Casartelli, P.; Turrini, E.; Contratto, C.; Giarratana, M. C.; Bagnasco, F.; Saettini, F.; Pillon, M.; Marzollo, A. et al.
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Web of Science Researcher Profile Sync

Small-molecule CBP/p300 histone acetyltransferase inhibition mobilizes leukocytes from the bone marrow via the endocrine stress response

Immunity
2024 | Journal article
DOI: 10.1016/J.IMMUNI.2024.01.005
WOSUID: WOS:001185599600001
Contributors: Jaschke, Nikolai P.; Breining, Dorit; Hofmann, Maura; Paehlig, Sophie; Baschant, Ulrike; Oertel, Reinhard; Traikov, Sofia; Grinenko, Tatyana; Saettini, Francesco; Biondi, Andrea et al.
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Working towards the ERN ITHACA international consensus statement on the Diagnosis and Management in Rubinstein-Taybi Syndrome

European Journal of Human Genetics
2024 | Journal article
WOSUID: WOS:001147414903462
Contributors: Lacombe, Didier; Bloch-Zupan, Agnes; Bredrup, Cecilie; Cooper, Edward; Houge, Sofia Douzgou; Garcia-Minaur, Sixto; Kayserili, Hulya; Larizza, Lidia; Lopez Gonzalez, Vanesa; Menke, Leonie et al.
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Web of Science Researcher Profile Sync

A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype-phenotype Association

Journal of Clinical Immunology
2023 | Journal article
DOI: 10.1007/S10875-023-01583-8
WOSUID: WOS:001082412300001
Contributors: Roncareggi, Samuele; Girardi, Katia; Fioredda, Francesca; Pedace, Lucia; Arcuri, Luca; Badolato, Raffaele; Bonanomi, Sonia; Borlenghi, Erika; Cirillo, Emilia; Coliva, Tiziana et al.
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Web of Science Researcher Profile Sync

Antibody Deficiency in Patients with Biallelic <i>KARS1</i> Mutations

Journal of Clinical Immunology
2023 | Journal article
DOI: 10.1007/S10875-023-01584-7
WOSUID: WOS:001076806500003
Contributors: Francesco, Saettini; Fabiola, Guerra; Grazia, Fazio; Cristina, Bugarin; Hugh, J. McMillan; Akira, Ohtake; Anna, Ardissone; Masayuki, Itoh; Sabrina, Giglio; Gerarda, Cappuccio et al.
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Web of Science Researcher Profile Sync

Antibody Deficiency in Patients with Biallelic <i>KARS1</i> Mutations (Sept, 10.1007/s10875-023-01584-7, 2023)

Journal of Clinical Immunology
2023 | Journal article
DOI: 10.1007/S10875-023-01600-W
WOSUID: WOS:001098558500001
Contributors: Saettini, Francesco; Guerra, Fabiola; Fazio, Grazia; Bugarin, Cristina; Mcmillan, Hugh J.; Ohtake, Akira; Ardissone, Anna; Itoh, Masayuki; Giglio, Sabrina; Cappuccio, Gerarda et al.
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Web of Science Researcher Profile Sync

Biallelic <i>PI4KA</i> variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

European Journal of Human Genetics
2022 | Journal article
WOSUID: WOS:000779367700160
Contributors: de la Calle, Irene; Verdura, Edgard; Rodriguez-Palmero, Agusti; Velez-Santamaria, Valentina; Planas-Serra, Laura; Benkirane, Mehdi; Saettini, Francesco; Pavinato, Lisa; O'Learly, Melanie; Barredo, Estibaliz et al.
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Web of Science Researcher Profile Sync

Case Report: Consistent disease manifestations with a staggered time course in two identical twins affected by adenosine deaminase 2 deficiency

Frontiers in Immunology
2022 | Journal article
DOI: 10.3389/FIMMU.2022.910021
WOSUID: WOS:000868477400001
Contributors: Barzaghi, Federica; Cicalese, Maria Pia; Zoccolillo, Matteo; Brigida, Immacolata; Barcella, Matteo; Merelli, Ivan; Sartirana, Claudia; Zanussi, Monica; Calbi, Valeria; Bernardo, Maria Ester et al.
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Web of Science Researcher Profile Sync

Curation and Expansion of Human Phenotype Ontology for Inborn Errors of Immunity

Journal of Clinical Immunology
2022 | Journal article
WOSUID: WOS:000784584900191
Contributors: Pazmandi, Julia; Haimel, Matthias; Mayr, Daniel; Berner, Jakob; Heredia, Raul Jimenez; Dmytrus, Jasmin; Bal, Sevgi; Zoghi, Samaneh; Van Daele, Paul; Briggs, Tracy et al.
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Web of Science Researcher Profile Sync

Effect of Vagus Nerve Stimulation on Blood Inflammatory Markers in Children with Drug-Resistant Epilepsy: A Pilot Study

Children
2022-07 | Journal article | Author
DOI: 10.3390/children9081133
Contributors: Valentina Baro; Maria Vittoria Bonavina; Francesco Saettini; Giovanna D’Amico; Andrea Trezza; LUCA DENARO; Daniele Grioni; Andrea Landi
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Multidisciplinary Digital Publishing Institute

A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2

Pediatric Hematology and Oncology
2020 | Journal article
DOI: 10.1080/08880018.2020.1793849
EID:

2-s2.0-85088402358

Part of ISBN:

15210669 08880018
Contributors: Saettini, F.; Castelli, I.; Provenzi, M.; Fazio, G.; Quadri, M.; Cazzaniga, G.; Sala, S.; Dell’Acqua, F.; Sieni, E.; Coniglio, M.L. et al.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Intermittent granulocyte maturation arrest, hypocellular bone marrow, and episodic normal neutrophil count can be associated with SRP54 mutations causing Shwachman–Diamond-like syndrome

British Journal of Haematology
2020 | Journal article
DOI: 10.1111/bjh.16585
EID:

2-s2.0-85082065097

Part of ISBN:

13652141 00071048
Contributors: Saettini, F.; Cattoni, A.; D’Angio’, M.; Corti, P.; Maitz, S.; Pagni, F.; Seminati, D.; Pezzoli, L.; Iascone, M.; Biondi, A. et al.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

More than an ‘atypical’ phenotype: dual molecular diagnosis of autoimmune lymphoproliferative syndrome and Becker muscular dystrophy

British Journal of Haematology
2020 | Journal article
DOI: 10.1111/bjh.16967
EID:

2-s2.0-85088140907

Part of ISBN:

13652141 00071048
Contributors: Saettini, F.; L'Imperio, V.; Fazio, G.; Cazzaniga, G.; Mazza, C.; Moroni, I.; Badolato, R.; Biondi, A.; Corti, P.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients

Journal of Clinical Immunology
2020 | Journal article
DOI: 10.1007/s10875-020-00808-4
EID:

2-s2.0-85087343083

Part of ISBN:

15732592 02719142
Contributors: Saettini, F.; Herriot, R.; Prada, E.; Nizon, M.; Zama, D.; Marzollo, A.; Romaniouk, I.; Lougaris, V.; Cortesi, M.; Morreale, A. et al.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Primary immunodeficiencies, autoimmune hyperthyroidism, coeliac disease and systemic lupus erythematosus in childhood immune thrombocytopenia

Acta Paediatrica, International Journal of Paediatrics
2020 | Journal article
DOI: 10.1111/apa.15593
EID:

2-s2.0-85092534970

Part of ISBN:

16512227 08035253
Contributors: Saettini, F.; Cattoni, A.; Redaelli, M.; Silvestri, D.; Ferrari, G.M.; Biondi, A.; Jankovic, M.; Spinelli, M.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Two siblings presenting with novel ADA2 variants, lymphoproliferation, persistence of large granular lymphocytes, and T-cell perturbations

Clinical Immunology
2020 | Journal article
DOI: 10.1016/j.clim.2020.108525
EID:

2-s2.0-85087892248

Part of ISBN:

15217035 15216616
Contributors: Saettini, F.; Fazio, G.; Corti, P.; Quadri, M.; Bugarin, C.; Gaipa, G.; Penco, F.; Moratto, D.; Chiarini, M.; Baronio, M. et al.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Activated Phosphoinositide 3-Kinase Delta Syndrome 1: Clinical and Immunological Data from an Italian Cohort of Patients

Journal of Clinical Medicine
2020-10 | Journal article | Author
DOI: 10.3390/jcm9103335
Contributors: Giulio Tessarin; Stefano Rossi; Manuela Baronio; Luisa Gazzurelli; Michael Colpani; Alessio Benvenuto; Fiammetta Zunica; Fabio Cardinale; Baldassarre Martire; letizia pomponia brescia et al.
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Multidisciplinary Digital Publishing Institute

Clinical features of Epstein-Barr virus infection in primary immunodeficiency patients,Manifestazioni dell'infezione da virus di Epstein-Barr nel paziente con immunodeficit

Medico e Bambino
2019 | Journal article
EID:

2-s2.0-85067370070

Part of ISBN:

15913090
Contributors: Zunica, F.; Saettini, F.; Biondi, A.; Badolato, R.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Hermansky-Pudlak syndrome type II and lethal hemophagocytic lymphohistiocytosis: Case description and review of the literature

Journal of Allergy and Clinical Immunology: In Practice
2019 | Journal article
DOI: 10.1016/j.jaip.2019.04.001
EID:

2-s2.0-85065085668

Part of ISBN:

22132198
Contributors: Dell'Acqua, F.; Saettini, F.; Castelli, I.; Badolato, R.; Notarangelo, L.D.; Rizzari, C.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

The challenge of pain assessment in children with cognitive disabilities: Features and clinical applicability of different observational tools

Journal of Paediatrics and Child Health
2019 | Journal article
DOI: 10.1111/jpc.14230
EID:

2-s2.0-85053860170

Part of ISBN:

14401754 10344810
Contributors: Cascella, M.; Bimonte, S.; Saettini, F.; Muzio, M.R.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

A novel EP300 mutation associated with Rubinstein-Taybi syndrome type 2 presenting as combined immunodeficiency

Pediatric Allergy and Immunology
2018 | Journal article
DOI: 10.1111/pai.12968
EID:

2-s2.0-85053862147

Part of ISBN:

13993038 09056157
Contributors: Saettini, F.; Moratto, D.; Grioni, A.; Maitz, S.; Iascone, M.; Rizzari, C.; Pavan, F.; Spinelli, M.; Bettini, L.R.; Biondi, A. et al.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Neutropenia, hypogammaglobulinemia, and pneumonia: A case of WHIM syndrome

Pediatrics International
2018 | Journal article
DOI: 10.1111/ped.13488
EID:

2-s2.0-85044278392

Part of ISBN:

1442200X 13288067
Contributors: Saettini, F.; Notarangelo, L.D.; Biondi, A.; Bonanomi, S.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Early diagnosis of PI3Kδ syndrome in a 2 years old girl with recurrent otitis and enlarged spleen

Immunology Letters
2017 | Journal article
DOI: 10.1016/j.imlet.2017.08.021
EID:

2-s2.0-85028983605

Part of ISBN:

18790542 01652478
Contributors: Saettini, F.; Pelagatti, M.A.; Sala, D.; Moratto, D.; Giliani, S.; Badolato, R.; Biondi, A.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Paediatricians should encourage the parents of children with special healthcare needs to disclose their use of complementary and alternative medicine

Acta Paediatrica, International Journal of Paediatrics
2017 | Journal article
DOI: 10.1111/apa.13967
EID:

2-s2.0-85024396029

Part of ISBN:

16512227 08035253
Contributors: Provenzi, L.; Barello, S.; Saettini, F.; Scotto di Minico, G.; Borgatti, R.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Pharmacology and psychiatry at the origins of Greek medicine: The myth of Melampus and the madness of the Proetides

Journal of the History of the Neurosciences
2017 | Journal article
DOI: 10.1080/0964704X.2016.1211901
EID:

2-s2.0-84987624529

Part of ISBN:

17445213 0964704X
Contributors: Olivieri, M.F.; Marzari, F.; Kesel, A.J.; Bonalume, L.; Saettini, F.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Acupuncture for the treatment of pediatric nocturnal enuresis: A systematic review and a meta-analysis of randomized and non-randomized studies

European Journal of Integrative Medicine
2016 | Journal article
DOI: 10.1016/j.eujim.2015.08.002
EID:

2-s2.0-84940783560

Part of ISBN:

18763839 18763820
Contributors: Saettini, F.; Marra, C.; Rota, M.; Liu, X.; Bower, W.F.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Complementary and alternative medicine (CAM) for children with special health care needs: A comparative usage study in Italy

European Journal of Integrative Medicine
2016 | Journal article
DOI: 10.1016/j.eujim.2015.06.005
EID:

2-s2.0-84933056826

Part of ISBN:

18763839 18763820
Contributors: Provenzi, L.; Saettini, F.; Barello, S.; Borgatti, R.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype

NeuroReport
2015 | Journal article
DOI: 10.1097/WNR.0000000000000337
EID:

2-s2.0-84924973227

Part of ISBN:

1473558X 09594965
Contributors: Romaniello, R.; Saettini, F.; Panzeri, E.; Arrigoni, F.; Bassi, M.T.; Borgatti, R.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Percutaneous transhepatic biliary drainage in an infant with obstructive jaundice caused by neuroblastoma

Pediatric Hematology and Oncology
2015 | Journal article
DOI: 10.3109/08880018.2014.981901
EID:

2-s2.0-84928102290

Part of ISBN:

15210669 08880018
Contributors: Saettini, F.; Agazzi, R.; Giraldi, E.; Foglia, C.; Cavalleri, L.; Morali, L.; Fasolini, G.; Spotti, A.; Provenzi, M.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Fever phobia among Italian caregivers: A survey in a pediatric emergency department

Minerva Pediatrica
2014 | Journal article
EID:

2-s2.0-84913553120

Part of ISBN:

00264946
Contributors: Saettini, F.; Bettinelli, A.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Is multifocality a prognostic factor in childhood hepatoblastoma?

Pediatric Blood and Cancer
2014 | Journal article
DOI: 10.1002/pbc.25077
EID:

2-s2.0-84904437358

Part of ISBN:

15455017 15455009
Contributors: Saettini, F.; Conter, V.; Provenzi, M.; Rota, M.; Giraldi, E.; Foglia, C.; Cavalleri, L.; D'Antiga, L.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Autoimmune thrombocytopenic purpura A serious disease? No An annoying disease? Yes,La Porpora Trombocitopenica Immune (PTI) Malattia grave? No. Malattia fastidiosa? Sì

Quaderni ACP
2013 | Journal article
EID:

2-s2.0-84883622139

Part of ISBN:

20391374 20391382
Contributors: Spinelli, M.; D'Adda, A.; Saettini, F.; Jankovic, M.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Is there a role for FDG-PET for the assessment of treatment efficacy in Wilms' Tumor? A case report and literature review

Pediatric Hematology and Oncology
2013 | Journal article
DOI: 10.3109/08880018.2013.832446
EID:

2-s2.0-84884506358

Part of ISBN:

08880018 15210669
Contributors: Provenzi, M.; Saettini, F.; Conter, V.; Chinaglia, D.; Vai, P.; Bruno, A.; Cavalleri, L.; Foglia, C.; Giraldi, E.; Collini, P. et al.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Is there a role for high dose chemotherapy and blood stem cell rescue in childhood hepatoblastoma presenting with lung metastases? A case report and literature review

Italian Journal of Pediatrics
2013 | Journal article
DOI: 10.1186/1824-7288-39-65
EID:

2-s2.0-84886902279

Part of ISBN:

17208424 18247288
Contributors: Provenzi, M.; Saettini, F.; Conter, V.; Giraldi, E.; Foglia, C.; Cavalleri, L.; Colledan, M.; D'Antiga, L.; Perilongo, G.; Da Dalt, L.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Symptomatic fever management among 3 different groups of pediatricians in Northern Lombardy (Italy): Results of an explorative cross-sectional survey

Italian Journal of Pediatrics
2013 | Journal article
DOI: 10.1186/1824-7288-39-51
EID:

2-s2.0-84883175975

Part of ISBN:

17208424 18247288
Contributors: Bettinelli, A.; Provero, M.C.; Cogliati, F.; Villella, A.; Marinoni, M.; Saettini, F.; Bianchetti, M.G.; Nespoli, L.; Galluzzo, C.; Lava, S.A.G.
Source: Self-asserted source
Francesco Saettini via Scopus - Elsevier

Peer review (2 reviews for 2 publications/grants)

Review activity for Cancers. (1)
Review activity for Journal of clinical immunology. (1)
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