Successful treatment of an anti-MDA5 antibody-positive Juvenile Dermatomyositis patient with refractory interstitial lung disease using tofacitinib

Authors: Valentina Natoli, Serena Palmeri, Ana Isabel Rebollo-Giménez, Caterina Matucci-Cerinic, Paola Bocca, Roberta Caorsi, Stefano Volpi, Riccardo Papa, Alessandro Consolaro, Marco Gattorno, Angelo Ravelli, Silvia Rosina

Source: Pediatric Rheumatology Online Journal, Vol 23, Iss 1, Pp 1-5 (2025)

Subject Terms: Juvenile dermatomyositis, Anti-MDA5 antibodies, Interstitial lung disease, Tofacitinib, JAK inhibitors, Type I IFN gene signature, 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/bc8f7efeb0824486b629760a9b5da21f

Case report: Single infusion of combined anti-CD20 and anti-CD38 monoclonal antibodies in pediatric refractory lupus nephritis

Authors: Decimo Silvio Chiarenza, Raul Mancini, Carolina Bigatti, Gianluca Caridi, Alessandro Consolaro, Valentina Natoli, Gabriele Mortari, Xhuliana Kajana, Francesca Lugani, Marco Gattorno, Gian Marco Ghiggeri, Edoardo La Porta, Gabriele Gaggero, Enrico E. Verrina, Andrea Angeletti

Source: Frontiers in Immunology, Vol 16 (2025)

Subject Terms: systemic lupus erythematous, lupus nephritis, rituximab, daratumumab, monoclonal antibodies, pediatric, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2025.1525892/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/6180d58ffb83478eae7e02fe7bd5543c

Reliability of a generative artificial intelligence tool for pediatric familial Mediterranean fever: insights from a multicentre expert survey

Authors: Saverio La Bella, Marina Attanasi, Annamaria Porreca, Armando Di Ludovico, Maria Cristina Maggio, Romina Gallizzi, Francesco La Torre, Donato Rigante, Francesca Soscia, Francesca Ardenti Morini, Antonella Insalaco, Marco Francesco Natale, Francesco Chiarelli, Gabriele Simonini, Fabrizio De Benedetti, Marco Gattorno, Luciana Breda

Source: Pediatric Rheumatology Online Journal, Vol 22, Iss 1, Pp 1-11 (2024)

Subject Terms: Artificial intelligence, AI, Pediatric rheumatology, Familial mediterranean fever, Generative artificial intelligence, FMF, 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/dd5991ca2dfc471386a38e30914e8cd4

Mevalonate kinase deficiency: an updated clinical overview and revision of the SHARE recommendations

Authors: Lilla Lengvári, Kata Takács, Anna Lengyel, Annamária Pálinkás, Carine Helena Wouters, Isabelle Koné-Paut, Jasmin Kuemmerle-Deschner, Jerold Jeyaratnam, Jordi Anton, Helen Jane Lachmann, Marco Gattorno, Michael Hofer, Nataša Toplak, Peter Weiser, Tilmann Kallinich, Seza Ozen, Véronique Hentgen, Yosef Uziel, Zsuzsanna Horváth, Márton Szabados, Paul Brogan, Tamás Constantin, Joost Frenkel

Source: Frontiers in Immunology, Vol 15 (2024)

Subject Terms: mevalonate kinase deficiency, diagnosis, genetics, treatment, guideline, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1466844/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/50ca06c45b9242a9b93e17de4599e250

Whipple Disease Presenting as Isolated Transverse Myelitis with Permanent Neurological Damage in a Patient with Systemic Lupus Erythematosus: A Case Report of a Difficult Diagnosis with a Literature Review

Authors: Carolina Saffioti, Marta Nebiolo, Roberta Caorsi, Alessio Mesini, Mariasavina Severino, Giacomo Brisca, Elio Castagnola, Marco Gattorno

Source: Infectious Disease Reports, Vol 16, Iss 2, Pp 269-280 (2024)

Subject Terms: Tropheryma whipplei, Whipple disease, systemic lupus erythematosus, immunosuppressive therapy, neuroimaging, Other systems of medicine, RZ201-999

File Description: electronic resource

Relation: https://www.mdpi.com/2036-7449/16/2/22; https://doaj.org/toc/2036-7449

Access URL: https://doaj.org/article/c0e6f99e4c5e47288a8d6dae7aaa0e63

ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling

Authors: Maximilian Hirschenberger, Alice Lepelley, Ulrich Rupp, Susanne Klute, Victoria Hunszinger, Lennart Koepke, Veronika Merold, Blaise Didry-Barca, Fanny Wondany, Tim Bergner, Tatiana Moreau, Mathieu P. Rodero, Reinhild Rösler, Sebastian Wiese, Stefano Volpi, Marco Gattorno, Riccardo Papa, Sally-Ann Lynch, Marte G. Haug, Gunnar Houge, Kristen M. Wigby, Jessica Sprague, Jerica Lenberg, Clarissa Read, Paul Walther, Jens Michaelis, Frank Kirchhoff, Carina C. de Oliveira Mann, Yanick J. Crow, Konstantin M. J. Sparrer

Source: Nature Communications, Vol 14, Iss 1, Pp 1-20 (2023)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/b099f69003f848078aba66c1696bcd67

The pyrin inflammasome, a leading actor in pediatric autoinflammatory diseases

Authors: Saverio La Bella, Armando Di Ludovico, Giulia Di Donato, Ozge Basaran, Seza Ozen, Marco Gattorno, Francesco Chiarelli, Luciana Breda

Source: Frontiers in Immunology, Vol 14 (2024)

Subject Terms: pyrin, inflammasome, familial Mediterranean fever, FMF, autoinflammatory diseases, IL-1, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1341680/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/0163cb6e586b413b871ec77dd5fb5a7a

Vasculitis and vasculopathy associated with inborn errors of immunity: an overview

Authors: Silvia Federici, Bianca Laura Cinicola, Francesco La Torre, Riccardo Castagnoli, Vassilios Lougaris, Giuliana Giardino, Stefano Volpi, Roberta Caorsi, Lucia Leonardi, Stefania Corrente, Annarosa Soresina, Caterina Cancrini, Antonella Insalaco, Marco Gattorno, Fabrizio De Benedetti, Gian Luigi Marseglia, Michele Miraglia Del Giudice, Fabio Cardinale

Source: Frontiers in Pediatrics, Vol 11 (2024)

Subject Terms: autoinflammatory diseases, DADA2, SAVI, monogenic lupus, haploinsufficiency A20, vasculopathy, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1258301/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/72787061944f423ca9c03056564a8f03

Novel heterozygous TREX1 mutation in a juvenile systemic lupus erythematosus patient with severe cutaneous involvement treated successfully with Jak-inhibitors: a case report

Authors: Martina Rossano, Emilio Amleto Conti, Paola Bocca, Stefano Volpi, Antonio Mastrangelo, Riccardo Cavalli, Marco Gattorno, Francesca Minoia, Giovanni Filocamo

Source: Frontiers in Immunology, Vol 14 (2023)

Subject Terms: systemic lupus erythematosus, Trex1, JAK-inhibitor, baricitinib, pediatrics, case report, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1288675/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/20d40947056e44378a6d8c93a5ecc3e6

Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching

Authors: Willem Maassen, Geertje Legger, Ovgu Kul Cinar, Paul van Daele, Marco Gattorno, Brigitte Bader-Meunier, Carine Wouters, Tracy Briggs, Lennart Johansson, Joeri van der Velde, Morris Swertz, Ebun Omoyinmi, Esther Hoppenreijs, Alexandre Belot, Despina Eleftheriou, Roberta Caorsi, Florence Aeschlimann, Guilaine Boursier, Paul Brogan, Matthias Haimel, Marielle van Gijn

Source: Frontiers in Immunology, Vol 14 (2023)

Subject Terms: Human Phenotype Ontology (HPO), systemic autoinflammatory disorders (SAIDs), genome diagnostics, variant interpretation, whole exome sequencing (WES), LIRICAL, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1215869/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/76942faa247e4c1ba731534148725544

PB2052: THE HEMATOLOGICAL SIDE OF TNFRSF13B/TACI: A MONOCENTRIC EXPERIENCE

Authors: Andrea Beccaria, Marina Lanciotti, Maria Carla Giarratana, Elena Palmisani, Isabella Ceccherini, Alice Grossi, Roberta Caorsi, Marco Gattorno, Paola Terranova, Michela Lupia, Domenico Coviello, Massimo Maffei, Sabrina Zanardi, Maurizio Miano, Carlo Dufour, Francesca Fioredda

Source: HemaSphere, Vol 7, p e934844d (2023)

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

File Description: electronic resource

Relation: http://journals.lww.com/10.1097/01.HS9.0000975008.93484.4d; https://doaj.org/toc/2572-9241

Access URL: https://doaj.org/article/7bd69f4011a6478aae16f9fc99125420

Protection against MIS-C outweighs the risk of myocarditis after Covid-19 vaccination in children

Authors: Marcello Mariani, Roberta Caorsi, Alessandro Consolaro, Giacomo Brisca, Camilla Sticchi, Marco Gattorno, Elio Castagnola, Angelo Ravelli

Source: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-4 (2022)

Subject Terms: Vaccine, BNT162b2, Children, Pediatrics, RJ1-570

File Description: electronic resource

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

Access URL: https://doaj.org/article/d616527cd12249c5b3c50143efbe38c2

Deficiency in coatomer complex I causes aberrant activation of STING signalling

Authors: Annemarie Steiner, Katja Hrovat-Schaale, Ignazia Prigione, Chien-Hsiung Yu, Pawat Laohamonthonkul, Cassandra R. Harapas, Ronnie Ren Jie Low, Dominic De Nardo, Laura F. Dagley, Michael J. Mlodzianoski, Kelly L. Rogers, Thomas Zillinger, Gunther Hartmann, Michael P. Gantier, Marco Gattorno, Matthias Geyer, Stefano Volpi, Sophia Davidson, Seth L. Masters

Source: Nature Communications, Vol 13, Iss 1, Pp 1-16 (2022)

Subject Terms: Science

File Description: electronic resource

Relation: https://doaj.org/toc/2041-1723

Access URL: https://doaj.org/article/30fa6bbd687e41a1bd2b9d85bd46d601

Case report: De novo SAMD9L truncation causes neonatal-onset autoinflammatory syndrome which was successfully treated with hematopoietic stem cell transplantation

Authors: María Soledad Caldirola, Analía Gisela Seminario, Paula Carolina Luna, Renata Curciarello, Guillermo Horacio Docena, Nicolás Fernandez Escobar, Guillermo Drelichman, Marco Gattorno, Adriana A. de Jesus, Raphaela Goldbach-Mansky, María Isabel Gaillard, Liliana Bezrodnik

Source: Frontiers in Pediatrics, Vol 11 (2023)

Subject Terms: autoinflammatory syndromes, CANDLE-like syndrome, primary immunodeficiencies, SAMD9L, sterile alpha motif domain containing 9 like, case report, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2023.1108207/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/1e09ec066fed437aa375975f59a10023

Hematopoietic stem cell transplantation for inborn errors of immunity: 30-year single-center experience

Authors: Gianluca Dell’Orso, Francesca Bagnasco, Stefano Giardino, Filomena Pierri, Giulia Ferrando, Daniela Di Martino, Concetta Micalizzi, Daniela Guardo, Stefano Volpi, Federica Sabatini, Maurizio Miano, Marco Gattorno, Carlo Dufour, Maura Faraci

Source: Frontiers in Immunology, Vol 14 (2023)

Subject Terms: hematopoietic stem cell transplantation, inborn errors of immunity, primary immunodeficiency, graft-versus-host disease, haploidentical TCR αβ/CD19+-depleted transplant, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2023.1103080/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/627a818d8ddf47609d235f46168c2b8c

Editorial: The kidney in auto-immune and auto-inflammatory processes: Definitions, mechanisms, and biomarkers

Authors: Augusto Vaglio, Marco Gattorno, Stephen McAdoo, Laura Piera Obici, Gian Marco Ghiggeri

Source: Frontiers in Medicine, Vol 9 (2023)

Subject Terms: autoimmune renal diseases, autoinflammatory diseases, lupus nephritis, ANCA associated vasculitis, membranous nephropathy, IgA vasculitis, Medicine (General), R5-920

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2022.1129021/full; https://doaj.org/toc/2296-858X

Access URL: https://doaj.org/article/d6e291182a1d4494abe335ba9233c241

The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2–associated multisystem inflammatory syndrome in children

Authors: Mehdi Benamar, Qian Chen, Janet Chou, Amélie M. Julé, Rafik Boudra, Paola Contini, Elena Crestani, Peggy S. Lai, Muyun Wang, Jason Fong, Shira Rockwitz, Pui Lee, Tsz Man Fion Chan, Ekin Zeynep Altun, Eda Kepenekli, Elif Karakoc-Aydiner, Ahmet Ozen, Perran Boran, Fatih Aygun, Pinar Onal, Ayse Ayzit Kilinc Sakalli, Haluk Cokugras, Metin Yusuf Gelmez, Fatma Betul Oktelik, Esin Aktas Cetin, Yuelin Zhong, Maria Lucia Taylor, Katherine Irby, Natasha B. Halasa, Elizabeth H. Mack, Overcoming COVID-19 Investigators, Sara Signa, Ignazia Prigione, Marco Gattorno, Nicola Cotugno, Donato Amodio, Raif S. Geha, Mary Beth Son, Jane Newburger, Pankaj B. Agrawal, Stefano Volpi, Paolo Palma, Ayca Kiykim, Adrienne G. Randolph, Gunnur Deniz, Safa Baris, Raffaele De Palma, Klaus Schmitz-Abe, Louis-Marie Charbonnier, Lauren A. Henderson, Talal A. Chatila

Source: The Journal of Clinical Investigation, Vol 133, Iss 1 (2023)

Subject Terms: COVID-19, Immunology, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1558-8238

Access URL: https://doaj.org/article/a39c807bcee64be782682857c935eead

Approaches to SARS-CoV-2 and other vaccinations in children with a history of multisystem inflammatory syndrome (MIS-C): An international survey

Authors: Francesca Minoia, Federica Lucioni, Merav Heshin-Bekenstein, Sebastiaan Vastert, Christoph Kessel, Yosef Uziel, Lovro Lamot, Nicolino Ruperto, Marco Gattorno, Claudia Bracaglia, Natasa Toplak

Source: Frontiers in Pediatrics, Vol 10 (2022)

Subject Terms: vaccination, multisystem inflammatory syndrome, pediatric inflammatory multisystem syndrome, MIS-C, SARS-CoV-2, COVID-19, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fped.2022.1030083/full; https://doaj.org/toc/2296-2360

Access URL: https://doaj.org/article/043cb7fddca54763bfadce4962dc67b7

Case Report: Susceptibility to viral infections and secondary hemophagocytic lymphohistiocytosis responsive to intravenous immunoglobulin as primary manifestations of adenosine deaminase 2 deficiency

Authors: Enrico Drago, Francesca Garbarino, Sara Signa, Alice Grossi, Francesca Schena, Federica Penco, Elettra Santori, Fabio Candotti, Kaan Boztug, Stefano Volpi, Marco Gattorno, Roberta Caorsi

Source: Frontiers in Immunology, Vol 13 (2022)

Subject Terms: dada2, hemophagocitic lymphohistiocytosis, viral infection, therapy, immunoglobulin, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.937108/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/f42672116ab34efa9419e70b7a20d6a5

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

Authors: Federica Barzaghi, Maria Pia Cicalese, Matteo Zoccolillo, Immacolata Brigida, Matteo Barcella, Ivan Merelli, Claudia Sartirana, Monica Zanussi, Valeria Calbi, Maria Ester Bernardo, Francesca Tucci, Maddalena Migliavacca, Fabio Giglio, Matteo Doglio, Daniele Canarutto, Francesca Ferrua, Giulia Consiglieri, Giulia Prunotto, Francesco Saettini, Sonia Bonanomi, Patrizia Rovere-Querini, Giulia Di Colo, Tatiana Jofra, Georgia Fousteri, Federica Penco, Marco Gattorno, Michael S. Hershfield, Lucia Bongiovanni, Maurilio Ponzoni, Sarah Marktel, Raffaella Milani, Jacopo Peccatori, Fabio Ciceri, Alessandra Mortellaro, Alessandro Aiuti

Source: Frontiers in Immunology, Vol 13 (2022)

Subject Terms: ADA2, adenosine deaminase 2 deficiency, neutropenia, T large granular lymphocytes, TLGL, HSCT, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fimmu.2022.910021/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/90dfc8d0b666457dafde9ab89f41de11