Activated phosphoinositde 3-kinase (PI3Kδ) syndrome: an Italian point of view on diagnosis and new advances in treatment

Authors: Vassilios Lougaris, Federico Le Piane, Caterina Cancrini, Francesca Conti, Alberto Tommasini, Raffaele Badolato, Antonino Trizzino, Marco Zecca, Antonio De Rosa, Federica Barzaghi, Claudio Pignata

Source: Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-11 (2024)

Subject Terms: APDS, PI3Kδ, IEI, Leniolisib, Sirolimus, NGS, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1824-7288

Access URL: https://doaj.org/article/c3a720bfdd824b72a325d875a42d7813

Rheumatological complaints in H syndrome: from inflammatory profiling to target treatment in a case study

Authors: Alessandra Tesser, Erica Valencic, Valentina Boz, Gianluca Tornese, Serena Pastore, Manuela Zanatta, Alberto Tommasini

Source: Pediatric Rheumatology Online Journal, Vol 22, Iss 1, Pp 1-6 (2024)

Subject Terms: SLC29A3, H syndrome, Interferon, Arthritis, JAK inhibitors, Hydroxychloroquine, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: https://doaj.org/toc/1546-0096

Access URL: https://doaj.org/article/8ed523cb52164d51b3a29e8acf5b2f6f

Correction: Erythropoietic protoporphyria: case reports for clinical and therapeutic hints

Authors: Cristina Tumminelli, Francesca Burlo, Serena Pastore, Giovanni Maria Severini, Irene Berti, Stefano Marchini, Davide Zanon, Eleonora De Martino, Alberto Tommasini

Source: Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-1 (2024)

Subject Terms: Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1824-7288

Access URL: https://doaj.org/article/c9df7214f6c741089fa9a406aef1cc31

In-Depth Phenotyping of PIGW-Related Disease and Its Role in 17q12 Genomic Disorder

Authors: Agnese Feresin, Mathilde Lefebvre, Emilie Sjøstrøm, Caterina Zanus, Elisa Paccagnella, Irene Bruno, Erica Valencic, Anna Morgan, Alberto Tommasini, Christel Thauvin, Allan Bayat, Giorgia Girotto, Luciana Musante

Source: Biomolecules, Vol 14, Iss 12, p 1626 (2024)

Subject Terms: PIGW, GPIBD11, heart malformation, epilepsy, fetus, 17q12 genomic disorder, Microbiology, QR1-502

File Description: electronic resource

Relation: https://www.mdpi.com/2218-273X/14/12/1626; https://doaj.org/toc/2218-273X

Access URL: https://doaj.org/article/1c2eb7676e8c4279acfc964b2270ec3c

Erythropoietic protoporphyria: case reports for clinical and therapeutic hints

Authors: Cristina Tumminelli, Francesca Burlo, Serena Pastore, Giovanni Maria Severini, Irene Berti, Stefano Marchini, Davide Zanon, Eleonora De Martino, Alberto Tommasini

Source: Italian Journal of Pediatrics, Vol 49, Iss 1, Pp 1-5 (2023)

Subject Terms: Porphyria, Photosensitivity, Cimetidine, Children porphyria, Ferrochelatase gene, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1824-7288

Access URL: https://doaj.org/article/247823627b9848d68af62a09fdff36f0

Subcutaneous tocilizumab in the management of non-infectious uveitis in children: a brief report

Authors: Francesca Burlo, Cristina Tumminelli, Serena Pastore, Gabriele Stocco, Debora Curci, Marianna Lucafò, Alberto Tommasini, Andrea Taddio

Source: Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-6 (2023)

Subject Terms: Uveitis, Inflammation, Biological therapies, Serum, Arthritis, Children, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: https://doaj.org/toc/1546-0096

Access URL: https://doaj.org/article/51dd4724ad5a4f148f8698f9c3255109

Siglec‐1, an easy and contributory inflammation marker in rheumatology

Authors: Valentina Boz, Alessandra Tesser, Francesca Burlo, Nicola Donadel, Serena Pastore, Alessandro Amaddeo, Francesca Vittoria, Matteo Padovan, Marianna Di Rosa, Alberto Tommasini, Erica Valencic

Source: Clinical & Translational Immunology, Vol 13, Iss 7, Pp n/a-n/a (2024)

Subject Terms: acute infections, flow cytometry, inflammation indexes, interferon, paediatric rheumatology, Siglec‐1, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://doaj.org/toc/2050-0068

Access URL: https://doaj.org/article/93a9a3965baf4edd9d6a8db3221c8d14

A very rare cause of pre‐capillary pulmonary hypertension: The PAMI syndrome

Authors: Manuela Iseppi, Giulio Savonitto, Alberto Tommasini, Alessia Pin, Gianfranco Sinagra, Davide Stolfo

Source: Pulmonary Circulation, Vol 13, Iss 4, Pp n/a-n/a (2023)

Subject Terms: inflammatory PH, interferonopathies, PSTPIP1 gene, pulmonary arterial hypertension (PAH), pulmonary circulation, Diseases of the circulatory (Cardiovascular) system, RC666-701, Diseases of the respiratory system, RC705-779

File Description: electronic resource

Relation: https://doaj.org/toc/2045-8940

Access URL: https://doaj.org/article/86f55b90a9a54d8f82e573da0dfbf075

A toddler with an unusually severe polyarticular arthritis and a lung involvement: a case report

Authors: Pietro Basile, Giulia Gortani, Andrea Taddio, Serena Pastore, Federica Corona, Alessandra Tesser, Egidio Barbi, Alberto Tommasini

Source: BMC Pediatrics, Vol 22, Iss 1, Pp 1-5 (2022)

Subject Terms: COPA Syndrome, Interferonopathy, Polyarticular arthritis, Interstitial pneumopathy, Case report, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1471-2431

Access URL: https://doaj.org/article/cdc4f826a8f9420db96829cd74c897c7

Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity

Authors: Andrea Balduit, Anna Monica Bianco, Alessandro Mangogna, Anna Maria Zicari, Lucia Leonardi, Bianca Laura Cinicola, Martina Capponi, Alberto Tommasini, Chiara Agostinis, Adamo Pio d’Adamo, Roberta Bulla

Source: Frontiers in Immunology, Vol 14 (2023)

Subject Terms: complement component 7 (C7), complement system, primary immunodeficiency, complement deficiency, functional hemizygosity, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1192690/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/b4171701deb8480eabf60b3950c4cd1d

Severe onset of inflammatory myositis in a child: think to paraneoplastic myositis

Authors: Simone Benvenuto, Giulia Gortani, Rossana Bussani, Federico Poropat, Flora Maria Murru, Marco Carrozzi, Alberto Tommasini, Andrea Taddio

Source: Italian Journal of Pediatrics, Vol 47, Iss 1, Pp 1-6 (2021)

Subject Terms: Cancer-associated myopathy, Necrotizing myopathy, Anti-TIF1- γ, Inflammatory myopathy, Teratoma, IVIG, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://doaj.org/toc/1824-7288

Access URL: https://doaj.org/article/3e44cba024a64853981bd49236bfb37a

Genetic and immunologic findings in children with recurrent aphthous stomatitis with systemic inflammation

Authors: Martina Girardelli, Erica Valencic, Valentina Moressa, Roberta Margagliotta, Alessandra Tesser, Serena Pastore, Ottavia Spadola, Emmanouil Athanasakis, Giovanni Maria Severini, Andrea Taddio, Alberto Tommasini

Source: Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-10 (2021)

Subject Terms: Recurrent aphthous stomatitis, Behçet’s disease, Systemic Lupus Erythematosus, Interferon signature, A20 haploinsufficiency, STAT1 mutation, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: https://doaj.org/toc/1546-0096

Access URL: https://doaj.org/article/309ae9636f954ccebfde8523183bd813

High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)

Authors: Adamo Pio d’Adamo, Anna Monica Bianco, Giovanna Ferrara, Martina La Bianca, Antonella Insalaco, Alberto Tommasini, Manuela Pardeo, Marco Cattalini, Francesco La Torre, Martina Finetti, Clotilde Alizzi, Gabriele Simonini, Virginia Messia, Serena Pastore, Rolando Cimaz, Marco Gattorno, Andrea Taddio, for the Italian Pediatric Rheumatology Study Group

Source: Pediatric Rheumatology Online Journal, Vol 18, Iss 1, Pp 1-6 (2020)

Subject Terms: Chronic non-bacterial osteomyelitis, FBLIM1 gene, Bone sterile inflammation, Autoinflammatory disease, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12969-020-00447-4; https://doaj.org/toc/1546-0096

Access URL: https://doaj.org/article/89cd5f5c8f7043b0b28ce7401ce3bf6c

Higher interferon score and normal complement levels may identify a distinct clinical subset in children with systemic lupus erythematosus

Authors: Alessandra Tesser, Luciana Martins de Carvalho, Paula Sandrin-Garcia, Alessia Pin, Serena Pastore, Andrea Taddio, Luciana Rodrigues Roberti, Rosane Gomes de Paula Queiroz, Virginia Paes Leme Ferriani, Sergio Crovella, Alberto Tommasini

Source: Arthritis Research & Therapy, Vol 22, Iss 1, Pp 1-12 (2020)

Subject Terms: Systemic lupus erythematosus, Interferon score, Complement, Autoinflammation, Autoimmunity, Patients’ stratification, Diseases of the musculoskeletal system, RC925-935

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13075-020-02161-8; https://doaj.org/toc/1478-6362

Access URL: https://doaj.org/article/c7d7d03faa174dbda6b31e469d4fd616

Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment

Authors: Valentina Boz, Alessandra Tesser, Martina Girardelli, Francesca Burlo, Alessia Pin, Giovanni Maria Severini, Ginevra De Marchi, Federico Verzegnassi, Samuele Naviglio, Alberto Tommasini, Erica Valencic

Source: Biomedicines, Vol 11, Iss 5, p 1299 (2023)

Subject Terms: autoimmunity, allergy, immunodysregulation, inborn errors of immunity, precision treatments, primary immune deficiency, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://www.mdpi.com/2227-9059/11/5/1299; https://doaj.org/toc/2227-9059

Access URL: https://doaj.org/article/8bfddbf6d5b947d7bc3b33e79dfb14f8

Genetic Variants Assessing Crohn’s Disease Pattern in Pediatric Inflammatory Bowel Disease Patients by a Clinical Exome Survey

Authors: Dago Dougba Noel, Pinelli Marinella, Giacomelli Mauro, Serena Ilaria Tripodi, Alessia Pin, Arrigo Serena, Bramuzzo Matteo, Fuoti Maurizio Giuseppe, Alvisi Patrizia, Calza Stefano, Alberto Tommasini, Badolato Raffaele

Source: Bioinformatics and Biology Insights, Vol 15 (2021)

Subject Terms: Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/1177-9322

Access URL: https://doaj.org/article/b09983aad3474ad2b154426b163d2f1c

A Novel ELISA-Based Peptide Biosensor Assay for Screening ABL1 Activity in vitro: A Challenge for Precision Therapy in BCR-ABL1 and BCR-ABL1 Like Leukemias

Authors: Oksana Montecchini, Stefania Braidotti, Raffaella Franca, Giulia Zudeh, Christian Boni, Claudio Sorio, Eleonora Toffoletti, Marco Rabusin, Alberto Tommasini, Giuliana Decorti, Gabriele Stocco

Source: Frontiers in Pharmacology, Vol 12 (2021)

Subject Terms: ABL1-class BCR-ABL1 like acute lymphoblastic leukemia, ABL1 peptide biosensor, in vitro ELISA assay, ABL1 tyrosin kinase inhibitors, precision therapy, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fphar.2021.749361/full; https://doaj.org/toc/1663-9812

Access URL: https://doaj.org/article/b3cbf4c74ffc49329cb1727d6d00ffbb

GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme

Authors: Roberta Bottega, Antonio Marzollo, Maddalena Marinoni, Emmanouil Athanasakis, Ilaria Persico, Anna Monica Bianco, Michela Faleschini, Erica Valencic, Daniela Simoncini, Linda Rossini, Fabio Corsolini, Martina La Bianca, Giuseppe Robustelli, Maria Gabelli, Massimo Agosti, Alessandra Biffi, Paolo Grotto, Valeria Bozzi, Patrizia Noris, Alberto B. Burlina, Adamo Pio d'Adamo, Alberto Tommasini, Flavio Faletra, Annalisa Pastore, Anna Savoia

Source: Haematologica, Vol 107, Iss 3 (2021)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://haematologica.org/article/view/10455; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

Access URL: https://doaj.org/article/35cd2665a3f64ab1a47cd248150afba4

Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies

Authors: Erica Valencic, Prisca Da Lozzo, Gianluca Tornese, Elena Ghirigato, Francesco Facca, Elisa Piscianz, Flavio Faletra, Andrea Taddio, Alberto Tommasini, Andrea Magnolato

Source: Frontiers in Pediatrics, Vol 9 (2021)

Subject Terms: RASopathies, mTORopathies, Ras/MAPK, recent bone marrow emigrants, flow cytometry, immune dysregulation, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.703613/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/6b34180d04494014b874929daadc1d44

Case Report: EBV Chronic Infection and Lymphoproliferation in Four APDS Patients: The Challenge of Proper Characterization, Therapy, and Follow-Up

Authors: Beatrice Rivalta, Donato Amodio, Cinzia Milito, Maria Chiriaco, Silvia Di Cesare, Carmela Giancotta, Francesca Conti, Veronica Santilli, Lucia Pacillo, Cristina Cifaldi, Maria Giovanna Desimio, Margherita Doria, Isabella Quinti, Rita De Vito, Gigliola Di Matteo, Andrea Finocchi, Paolo Palma, Antonino Trizzino, Alberto Tommasini, Caterina Cancrini

Source: Frontiers in Pediatrics, Vol 9 (2021)

Subject Terms: APDS, PI3Kdelta kinase, EBV, lymphoproliferation, p110δ, p85α, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2021.703853/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/073f1183b72c4cb19b40037c3df35304