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1. SARS-CoV-2 brainstem encephalitis in human inherited DBR1 deficiency.

Author

Chan, Yi-Hao, Lundberg, Vanja, Le Pen, Jérémie, Yuan, Jiayi, Lee, Danyel, Pinci, Francesca, Volpi, Stefano, Nakajima, Koji, Bondet, Vincent, Åkesson, Sanna, Khobrekar, Noopur, Bodansky, Aaron, Du, Likun, Melander, Tina, Mariaggi, Alice-Andrée, Seeleuthner, Yoann, Saleh, Tariq, Chakravarty, Debanjana, Marits, Per, Dobbs, Kerry, Vonlanthen, Sofie, Hennings, Viktoria, Thörn, Karolina, Rinchai, Darawan, Bizien, Lucy, Chaldebas, Matthieu, Sobh, Ali, Özçelik, Tayfun, Keles, Sevgi, AlKhater, Suzan, Prando, Carolina, Meyts, Isabelle, Wilson, Michael, Rosain, Jérémie, Jouanguy, Emmanuelle, Aubart, Mélodie, Abel, Laurent, Mogensen, Trine, Pan-Hammarström, Qiang, Gao, Daxing, Duffy, Darragh, Cobat, Aurélie, Berg, Stefan, Notarangelo, Luigi, Harschnitz, Oliver, Rice, Charles, Studer, Lorenz, Casanova, Jean-Laurent, Ekwall, Olov, and Zhang, Shen-Ying

Subjects
Humans, Male, SARS-CoV-2, COVID-19, Brain Stem, Adolescent, Neurons, Encephalitis, Viral, Fibroblasts, Rhombencephalon
Abstract

Inherited deficiency of the RNA lariat-debranching enzyme 1 (DBR1) is a rare etiology of brainstem viral encephalitis. The cellular basis of disease and the range of viral predisposition are unclear. We report inherited DBR1 deficiency in a 14-year-old boy who suffered from isolated SARS-CoV-2 brainstem encephalitis. The patient is homozygous for a previously reported hypomorphic and pathogenic DBR1 variant (I120T). Consistently, DBR1 I120T/I120T fibroblasts from affected individuals from this and another unrelated kindred have similarly low levels of DBR1 protein and high levels of RNA lariats. DBR1 I120T/I120T human pluripotent stem cell (hPSC)-derived hindbrain neurons are highly susceptible to SARS-CoV-2 infection. Exogenous WT DBR1 expression in DBR1 I120T/I120T fibroblasts and hindbrain neurons rescued the RNA lariat accumulation phenotype. Moreover, expression of exogenous RNA lariats, mimicking DBR1 deficiency, increased the susceptibility of WT hindbrain neurons to SARS-CoV-2 infection. Inborn errors of DBR1 impair hindbrain neuron-intrinsic antiviral immunity, predisposing to viral infections of the brainstem, including that by SARS-CoV-2.

Published
2024

2. COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report

Author

McDonnell, John, Cousins, Kimberley, Younger, M. Elizabeth M., Lane, Adam, Abolhassani, Hassan, Abraham, Roshini S., Al-Tamemi, Salem, Aldave-Becerra, Juan Carlos, Al-Faris, Eman Hesham, Alfaro-Murillo, Alberto, AlKhater, Suzan A., Alsaati, Nouf, Doss, Alexa Michelle Altman, Anderson, Melissa, Angarola, Ernestina, Ariue, Barbara, Arnold, Danielle E., Assa’ad, Amal H., Aytekin, Caner, Bank, Meaghan, Bergerson, Jenna R. E., Bleesing, Jack, Boesing, John, Bouso, Carolina, Brodszki, Nicholas, Cabanillas, Diana, Cady, Carol, Callahan, Meghan A., Caorsi, Roberta, Carbone, Javier, Carrabba, Maria, Castagnoli, Riccardo, Catanzaro, Jason R., Chan, Samantha, Chandra, Sharat, Chapdelaine, Hugo, Chavoshzadeh, Zahra, Chong, Hey Jin, Connors, Lori, Consonni, Filippo, Correa-Jimenez, Oscar, Cunningham-Rundles, Charlotte, D’Astous-Gauthier, Katherine, Delmonte, Ottavia Maria, Demirdag, Yesim Yilmaz, Deshpande, Deepti R., Diaz-Cabrera, Natalie M., Dimitriades, Victoria R., El-Owaidy, Rasha, ElGhazali, Gehad, Al-Hammadi, Suleiman, Fabio, Giovanna, Faure, Astrid Schellnast, Feng, Jin, Fernandez, James M., Fill, Lauren, Franco, Guacira R., Frenck, Robert W., Fuleihan, Ramsay L., Giardino, Giuliana, Galant-Swafford, Jessica, Gambineri, Eleonora, Garabedian, Elizabeth K., Geerlinks, Ashley V., Goudouris, Ekaterini, Grecco, Octavio, Pan-Hammarström, Qiang, Khani, Hedieh Haji Khodaverdi, Hammarström, Lennart, Hartog, Nicholas L., Heimall, Jennifer, Hernandez-Molina, Gabriela, Horner, Caroline C., Hostoffer, Robert W., Hristova, Nataliya, Hsiao, Kuang-Chih, Ivankovich-Escoto, Gabriela, Jaber, Faris, Jalil, Maaz, Jamee, Mahnaz, Jean, Tiffany, Jeong, Stephanie, Jhaveri, Devi, Jordan, Michael B., Joshi, Avni Y., Kalkat, Amanpreet, Kanarek, Henry J., Kellner, Erinn S., Khojah, Amer, Khoury, Ruby, Kokron, Cristina M., Kumar, Ashish, Lecerf, Kelsey, Lehman, Heather K., Leiding, Jennifer W., Lesmana, Harry, Lim, Xin Rong, Lopes, Joao Pedro, López, Ana Laura, Tarquini, Lucia, Lundgren, Ingrid S., Magnusson, Julieann, Marinho, Ana Karolina B. B., Marseglia, Gian Luigi, Martone, Giulia M., Mechtler, Annamaria G., Mendonca, Leonardo, Milner, Joshua D., Mustillo, Peter J., Naderi, Asal Gharib, Naviglio, Samuele, Nell, Jeremy, Niebur, Hana B., Notarangelo, Luigi, Oleastro, Matias, Ortega-López, María Claudia, Patel, Neil R., Petrovic, Gordana, Pignata, Claudio, Porras, Oscar, Prince, Benjamin T., Puck, Jennifer M., Qamar, Nashmia, Rabusin, Marco, Raje, Nikita, Regairaz, Lorena, Risma, Kimberly A., Ristagno, Elizabeth H., Routes, John, Roxo-Junior, Persio, Salemi, Negin, Scalchunes, Christopher, Schuval, Susan J., Seneviratne, Suranjith L., Shankar, Ashwin, Sherkat, Roya, Shin, Junghee Jenny, Siddiqi, Abeer, Signa, Sara, Sobh, Ali, Lima, Fabiana Mascarenhas Souza, Stenehjem, Kristen K., Tam, Jonathan S., Tang, Monica, Barros, Myrthes Toledo, Verbsky, James, Vergadi, Eleni, Voelker, Dayne H., Volpi, Stefano, Wall, Luke A., Wang, Christine, Williams, Kelli W., Wu, Eveline Y., Wu, Shan Shan, Zhou, Jessie J., Cook, Alexandria, Sullivan, Kathleen E., and Marsh, Rebecca

Published
2024
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3. Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease

Author

David, Clémence, Badonyi, Mihaly, Kechiche, Robin, Insalaco, Antonella, Zecca, Marco, De Benedetti, Fabrizio, Orcesi, Simona, Chiapparini, Luisa, Comoli, Patrizia, Federici, Silvia, Gattorno, Marco, Ginevrino, Monia, Giorgio, Elisa, Matteo, Valentina, Moran-Alvarez, Patricia, Politano, Davide, Prencipe, Giusi, Sirchia, Fabio, Volpi, Stefano, Masson, Cécile, Rice, Gillian I., Frémond, Marie-Louise, Lepelley, Alice, Marsh, Joseph A., and Crow, Yanick J.

Published
2024
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5. A critical view on autoantibodies in lupus nephritis: Concrete knowledge based on evidence

Author

Bruschi, Maurizio, Angeletti, Andrea, Prunotto, Marco, Meroni, Pier Luigi, Ghiggeri, Gian Marco, Moroni, Gabriella, Sinico, Renato Alberto, Franceschini, Franco, Fredi, Micaela, Vaglio, Augusto, Cavalli, Andrea, Scapozza, Leonardo, Patel, Jigar J., Tan, John C., Lo, Ken C., Cavagna, Lorenzo, Petretto, Andrea, Pratesi, Federico, Migliorini, Paola, Locatelli, Francesco, Pazzola, Giulia, Pesce, Giampaola, Giannese, Domenico, Manfredi, Angelo, Ramirez, Giuseppe A., Esposito, Pasquale, Murdaca, Giuseppe, Negrini, Simone, Bui, Federica, Trezzi, Barbara, Emmi, Giacomo, Cavazzana, Ilaria, Binda, Valentina, Fenaroli, Paride, Pisan, Isabella, Montecucco, Carlomaurizio, Santoro, Domenico, Scolari, Francesco, Mescia, Federica, Volpi, Stefano, Mosca, Marta, Tincani, Angela, Ravelli, Angelo, Murtas, Corrado, Candiano, Giovanni, Caridi, Gianluca, La Porta, Edoardo, and Verrina, Enrico

Published
2024
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7. ARF1 prevents aberrant type I interferon induction by regulating STING activation and recycling

Author

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

Published
2023
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10. Discovery of a Peptide Nucleic Acid (PNA) aptamer for cardiac troponin I: Substituting DNA with neutral PNA maintains picomolar affinity and improves performances for electronic sensing with graphene field-effect transistors (gFET)

Author

Rodrigues, Teresa, Curti, Federica, Leroux, Yann R., Barras, Alexandre, Pagneux, Quentin, Happy, Henri, Kleber, Christoph, Boukherroub, Rabah, Hasler, Roger, Volpi, Stefano, Careri, Maria, Corradini, Roberto, Szunerits, Sabine, and Knoll, Wolfgang

Published
2023
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11. Immune tolerance breakdown in inborn errors of immunity: Paving the way to novel therapeutic approaches

Author

Giardino, Giuliana, Romano, Roberta, Lougaris, Vassilios, Castagnoli, Riccardo, Cillo, Francesca, Leonardi, Lucia, La Torre, Francesco, Soresina, Annarosa, Federici, Silvia, Cancrini, Caterina, Pacillo, Lucia, Toriello, Elisabetta, Cinicola, Bianca Laura, Corrente, Stefania, Volpi, Stefano, Marseglia, Gian Luigi, Pignata, Claudio, and Cardinale, Fabio

Published
2023
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15. Analysis of pulmonary features and treatment approaches in the COPA syndrome.

Author

Tsui, Jessica, Estrada, Oscar, Deng, Zimu, Wang, Kristin, Law, Christopher, Elicker, Brett, Jones, Kirk, Dell, Sharon, Gudmundsson, Gunnar, Hansdottir, Sif, Helfgott, Simon, Volpi, Stefano, Gattorno, Marco, Waterfield, Michael, Ley, Brett, Shum, Anthony, Chung, Sharon, and Chan, Alice

Abstract

The COPA syndrome is a monogenic, autoimmune lung and joint disorder first identified in 2015. This study sought to define the main pulmonary features of the COPA syndrome in an international cohort of patients, analyse patient responses to treatment and highlight when genetic testing should be considered. We established a cohort of subjects (N=14) with COPA syndrome seen at multiple centres including the University of California, San Francisco, CA, USA. All subjects had one of the previously established mutations in the COPA gene, and had clinically apparent lung disease and arthritis. We analysed cohort characteristics using descriptive statistics. All subjects manifested symptoms before the age of 12 years, had a family history of disease, and developed diffuse parenchymal lung disease and arthritis. 50% had diffuse alveolar haemorrhage. The most common pulmonary findings included cysts on chest computed tomography and evidence of follicular bronchiolitis on lung biopsy. All subjects were positive for anti-neutrophil cytoplasmic antibody, anti-nuclear antibody or both and 71% of subjects had rheumatoid factor positivity. All subjects received immunosuppressive therapy. COPA syndrome is an autoimmune disorder defined by diffuse parenchymal lung disease and arthritis. We analysed an international cohort of subjects with genetically confirmed COPA syndrome and found that common pulmonary features included cysts, follicular bronchiolitis and diffuse alveolar haemorrhage. Common extrapulmonary features included early age of onset, family history of disease, autoantibody positivity and arthritis. Longitudinal data demonstrated improvement on chest radiology but an overall decline in pulmonary function despite chronic treatment.

Published
2018

16. Deficiency in coatomer complex I causes aberrant activation of STING signalling

Author

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

Published
2022
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18. Effect of anakinra on mortality in patients with COVID-19: a systematic review and patient-level meta-analysis

Author

Kyriazopoulou, Evdoxia, Huet, Thomas, Cavalli, Giulio, Gori, Andrea, Kyprianou, Miltiades, Pickkers, Peter, Eugen-Olsen, Jesper, Clerici, Mario, Veas, Francisco, Chatellier, Gilles, Kaplanski, Gilles, Netea, Mihai G., Pontali, Emanuele, Gattorno, Marco, Cauchois, Raphael, Kooistra, Emma, Kox, Matthijs, Bandera, Alessandra, Beaussier, Hélène, Mangioni, Davide, Dagna, Lorenzo, van der Meer, Jos W.M., Giamarellos-Bourboulis, Evangelos J., Hayem, Gilles, Volpi, Stefano, Sormani, Maria Pia, Signori, Alessio, Bozzi, Giorgio, Minoia, Francesca, Aliberti, Stefano, Grasselli, Giacomo, Alagna, Laura, Lombardi, Andrea, Ungaro, Riccardo, Agostoni, Carlo, Blasi, Francesco, Costantino, Giorgio, Fracanzani, Anna Ludovica, Montano, Nicola, Peyvandi, Flora, Sottocorno, Marcello, Muscatello, Antonio, Filocamo, Giovanni, Papadopoulos, Antonios, Mouktaroudi, Maria, Karakike, Eleni, Saridaki, Maria, Gkavogianni, Theologia, Katrini, Konstantina, Vechlidis, Nikolaos, Avgoustou, Christina, Chalvatzis, Stamatios, Marantos, Theodoros, Damoulari, Christina, Damoraki, Georgia, Ktena, Sofia, Tsilika, Maria, Koufargyris, Panagiotis, Karageorgos, Athanasios, Droggiti, Dionysia-Irene, Koliakou, Aikaterini, Poulakou, Garyfallia, Tsiakos, Konstantinos, Myrodia, Dimitra-Melia, Gravvani, Areti, Trontzas, Ioannis P., Syrigos, Konstantinos, Kalomenidis, Ioannis, Kranidioti, Eleftheria, Panagopoulos, Periklis, Petrakis, Vasileios, Metallidis, Simeon, Loli, Georgia, Tsachouridou, Olga, Dalekos, George N., Gatselis, Nikolaos, Stefos, Aggelos, Georgiadou, Sarah, Lygoura, Vassiliki, Milionis, Haralampos, Kosmidou, Maria, Papanikolaou, Ilias C., Akinosoglou, Karolina, Giannitsioti, Efthymia, Chrysos, Georgios, Mavroudis, Panagiotis, Sidiropoulou, Chrysanthi, Adamis, Georgios, Fragkou, Archontoula, Rapti, Aggeliki, Alexiou, Zoi, Symbardi, Styliani, Masgala, Aikaterini, Kostaki, Konstantina, Kostis, Evangelos, Samarkos, Michael, Bakakos, Petros, Tzavara, Vassiliki, Dimakou, Katerina, Tzatzagou, Glykeria, Chini, Maria, Kotsis, Vasileios, Tsoukalas, George, Bliziotis, Ioannis, Doumas, Michael, Argyraki, Aikaterini, Kainis, Ilias, Fantoni, Massimo, Cingolani, Antonella, Angheben, Andrea, Cardellino, Chiara Simona, Castelli, Francesco, Serino, Francesco Saverio, Nicastri, Emanuele, Ippolito, Giuseppe, Bassetti, Matteo, Selmi, Carlo, Netea, Mihai G, van der Meer, Jos W M, and Giamarellos-Bourboulis, Evangelos J

Published
2021
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19. EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

Author

Volpi, Stefano, Yamazaki, Yasuhiro, Brauer, Patrick M, van Rooijen, Ellen, Hayashida, Atsuko, Slavotinek, Anne, Kuehn, Hye Sun, Di Rocco, Maja, Rivolta, Carlo, Bortolomai, Ileana, Du, Likun, Felgentreff, Kerstin, de Bruin, Lisa Ott, Hayashida, Kazutaka, Freedman, George, Marcovecchio, Genni Enza, Capuder, Kelly, Rath, Prisni, Luche, Nicole, Hagedorn, Elliott J, Buoncompagni, Antonella, Royer-Bertrand, Beryl, Giliani, Silvia, Poliani, Pietro Luigi, Imberti, Luisa, Dobbs, Kerry, Poulain, Fabienne E, Martini, Alberto, Manis, John, Linhardt, Robert J, Bosticardo, Marita, Rosenzweig, Sergio Damian, Lee, Hane, Puck, Jennifer M, Zúñiga-Pflücker, Juan Carlos, Zon, Leonard, Park, Pyong Woo, Superti-Furga, Andrea, and Notarangelo, Luigi D

Subjects
Stem Cell Research - Induced Pluripotent Stem Cell - Human, Stem Cell Research - Nonembryonic - Non-Human, Genetics, Stem Cell Research - Induced Pluripotent Stem Cell, Stem Cell Research, Pediatric, Rare Diseases, Congenital Structural Anomalies, 2.1 Biological and endogenous factors, Aetiology, Animals, Bone Diseases, Developmental, Child, Preschool, Developmental Disabilities, Female, Heparitin Sulfate, Humans, Immunologic Deficiency Syndromes, Induced Pluripotent Stem Cells, Infant, Lymphocytes, Mutation, N-Acetylglucosaminyltransferases, Zebrafish, Medical and Health Sciences, Immunology
Abstract

We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan sulfate (HS) biosynthesis. Patient-derived fibroblasts showed abnormal HS composition and altered fibroblast growth factor 2 signaling, which was rescued by overexpression of wild-type EXTL3 cDNA. Interleukin-2-mediated STAT5 phosphorylation in patients' lymphocytes was markedly reduced. Interbreeding of the extl3-mutant zebrafish (box) with Tg(rag2:green fluorescent protein) transgenic zebrafish revealed defective thymopoiesis, which was rescued by injection of wild-type human EXTL3 RNA. Targeted differentiation of patient-derived induced pluripotent stem cells showed a reduced expansion of lymphohematopoietic progenitor cells and defects of thymic epithelial progenitor cell differentiation. These data identify EXTL3 mutations as a novel cause of severe immune deficiency with skeletal dysplasia and developmental delay and underline a crucial role of HS in thymopoiesis and skeletal and brain development.

Published
2017

20. Lupus Nephritis Patterns and Response to Type I Interferon in Patients With DNASE1L3Variants: Report of Three Cases

Author

Volpi, Stefano, Angelotti, Maria L., Palazzini, Giulia, Antonelli, Giulia, Ravaglia, Fiammetta, Garibotto, Federica, Agrusti, Anna, Grossi, Alice, Magnasco, Alberto, Rossi, Giovanni M., Errichiello, Carmela, Peyronel, Francesco, Buti, Elisa, Lodi, Lorenzo, Ghiggeri, Gian M., Romagnani, Paola, and Vaglio, Augusto

Abstract

DNASE1L3 is an extracellular nuclease that digests chromatin released from apoptotic cells. DNASE1L3variants impair the enzyme function, enhance autoantibody production and type I interferon (IFN-I) responses, and cause different autosomal recessive phenotypes ranging from hypocomplementemic urticarial vasculitis syndrome to full-blown systemic lupus erythematosus (SLE). Kidney involvement in patients with DNASE1L3variants is poorly characterized. Herein, we describe the clinical course of 3 children with monogenic SLE due to DNASE1L3variants who developed refractory glomerulonephritis leading to kidney failure. They had different renal histopathological patterns (ie, membranous, endocapillary, and extracapillary glomerulonephritis and thrombotic microangiopathy), all belonging to the lupus nephritis (LN) spectrum. One patient had a mixed phenotype, showing an overlap between SLE and antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis. Using immunofluorescence, we detected glomerular expression of the IFN-I–induced human myxovirus resistance protein 1 (MXA), which was particularly evident in glomerular endothelial cells. Two of the patients had increased expression of interferon-stimulated genes in the peripheral blood, and all 3 patients had reduced serum DNAse activity. Our findings suggest that DNASE1L3-related glomerulonephritis can be included in the spectrum of IFN-I–mediated kidney disorders and provide the rationale for IFN-I–directed therapies in order to improve the poor outcome of this rare condition.

Published
2024
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21. Interleukin-1 blockade in patients with Wiskott-Aldrich syndrome: a retrospective multinational case series

Author

Naviglio, Samuele, Cicalese, Maria Pia, Rivers, Elizabeth, Ferrua, Francesca, Bonfim, Carmem, Cenciarelli, Sabina, Cheong, Kai-Ning, Faraci, Maura, Giardino, Stefano, Ghosh, Sujal, Lee, Pamela P., Lyra, Paula Teixeira, Meisel, Roland, Sofia, Valentina, Tessitore, Antimo, Tommasini, Alberto, Valencic, Erica, Vallée, Tanja Christine, Volpi, Stefano, Worth, Austen J., Rabusin, Marco, Albert, Michael H., Thrasher, Adrian J., and Aiuti, Alessandro

Abstract

•Patients with Wiskott-Aldrich syndrome can develop inflammatory manifestations poorly controlled by corticosteroid therapy.•Treatment with anti–IL-1 agents resulted in dramatic responses, suggesting an autoinflammatory pathogenesis.

Published
2024
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22. Inborn Error of WAS Presenting with SARS-CoV-2-Related Multisystem Inflammatory Syndrome in Children.

Author

Drago, Enrico, Fioredda, Francesca, Penco, Federica, Prigione, Ignazia, Bertoni, Arinna, Del Zotto, Genny, Bocca, Paola, Massaccesi, Erika, Lanciotti, Marina, Moratto, Daniele, Thurner, Lorenz, Caorsi, Roberta, Gattorno, Marco, and Volpi, Stefano

Abstract

Multisystem inflammatory syndrome in children (MIS-C) has been reported in patients with inborn errors of immunity (IEI), providing insights into disease pathogenesis. Here, we present the first case of MIS-C in a child affected by Wiskott-Aldrich syndrome (WAS) gene mutation, elucidating underlying predisposing factors and the involved inflammatory pathways. Genetic analysis revealed a frameshift truncating variant in the WAS gene, resulting in WAS protein expression between mild and severe forms, despite a clinical phenotype resembling X-linked thrombocytopenia (XLT). IL-1β secretion by LPS-stimulated peripheral blood mononuclear cells from patient during MIS-C was lower compared to healthy subjects but increased during follow-up. Conversely, the percentage of ASC (apoptosis-associated speck-like protein containing a CARD) specks in the patient’s circulating monocytes during the acute phase was higher than in healthy subjects. The type I interferon (IFN) signature during MIS-C was normal, in contrast to the raised IFN signature measured far from the acute event. This case supports the association of IEI with MIS-C, potentially linked to delayed immune responses to SARS-CoV-2. The XLT phenotype underlies a subclinical immunodysregulation involving the NLRP3 inflammasome and the type-I IFN response. [ABSTRACT FROM AUTHOR]

Published
2025
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23. Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients

Author

Frémond, Marie-Louise, Hadchouel, Alice, Berteloot, Laureline, Melki, Isabelle, Bresson, Violaine, Barnabei, Laura, Jeremiah, Nadia, Belot, Alexandre, Bondet, Vincent, Brocq, Olivier, Chan, Damien, Dagher, Rawane, Dubus, Jean-Christophe, Duffy, Darragh, Feuillet-Soummer, Séverine, Fusaro, Mathieu, Gattorno, Marco, Insalaco, Antonella, Jeziorski, Eric, Kitabayashi, Naoki, Lopez-Corbeto, Mireia, Mazingue, Françoise, Morren, Marie-Anne, Rice, Gillian I., Rivière, Jacques G., Seabra, Luis, Sirvente, Jérôme, Soler-Palacin, Pere, Stremler-Le Bel, Nathalie, Thouvenin, Guillaume, Thumerelle, Caroline, Van Aerde, Eline, Volpi, Stefano, Willcocks, Sophie, Wouters, Carine, Breton, Sylvain, Molina, Thierry, Bader-Meunier, Brigitte, Moshous, Despina, Fischer, Alain, Blanche, Stéphane, Rieux-Laucat, Frédéric, Crow, Yanick J., and Neven, Bénédicte

Published
2021
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25. The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in children

Author

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

Subjects
Suppressor cells -- Health aspects -- Physiological aspects, Cellular signal transduction -- Research, Pediatric research, Health care industry
Abstract

Multisystem inflammatory syndrome in children (MIS-C) evolves in some pediatric patients following acute infection with SARS-CoV-2 by hitherto unknown mechanisms. Whereas acute-COVID-19 severity and outcomes were previously correlated with Notch4 expression on Tregs, here, we show that Tregs in MIS-C were destabilized through a Notch1-dependent mechanism. Genetic analysis revealed that patients with MIS-C had enrichment of rare deleterious variants affecting inflammation and autoimmunity pathways, including dominant-negative mutations in the Notch1 regulators NUMB and NUMBL leading to Notch1 upregulation. Notch1 signaling in Tregs induced CD22, leading to their destabilization in a mTORC1dependent manner and to the promotion of systemic inflammation. These results identify a Notch1/CD22 signaling axis that disrupts Treg function in MIS-C and point to distinct immune checkpoints controlled by individual Treg Notch receptors that shape the inflammatory outcome in SARS-CoV-2 infection., Introduction COVID-19, caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has resulted in massive morbidity and mortality worldwide (1, 2). Acute infection is associated in some individuals with [...]

Published
2023
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26. Therapeutic Role of HPV Vaccination on Benign HPV-induced Epithelial Proliferations in Immunocompetent and Immunocompromised Patients: Case Study and Review of the Literature.

Author

Matucci-Cerinic, Caterina, Herzum, Astrid, Ciccarese, Giulia, Rosina, Silvia, Caorsi, Roberta, Gattorno, Marco, Occella, Corrado, Viglizzo, Gianmaria, and Volpi, Stefano

Subjects
LITERATURE reviews, HUMAN papillomavirus vaccines, SEXUALLY transmitted diseases, HUMAN papillomavirus, TREATMENT effectiveness, WARTS, GENITAL warts
Abstract

Human papillomavirus (HPV) vaccination represents a milestone in primary prevention of sexually transmitted infections. However, little is known about its possible effects on already established HPV infections. We report the case of a 9-year-old immunosuppressed girl with refractory warts, successfully treated with the nonavalent-HPV vaccine and review the literature about the therapeutic effects of HPV vaccination on benign HPV-induced epithelial proliferations in immunocompetent and immunosuppressed patients. In the literature, promising results were shown on cutaneous warts after HPV vaccination, especially in children and young adults, also in immunosuppressed patients, whereas controverse results were found on anogenital warts. These findings suggest a critical need for randomized clinical trials to assess the efficacy of HPV vaccination in the treatment of benign HPV-induced epithelial proliferations. [ABSTRACT FROM AUTHOR]

Published
2024
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27. Long-term follow-up of 168 patients with X-linked agammaglobulinemia reveals increased morbidity and mortality

Author

Lougaris, Vassilios, Soresina, Annarosa, Baronio, Manuela, Montin, Davide, Martino, Silvana, Signa, Sara, Volpi, Stefano, Zecca, Marco, Marinoni, Maddalena, Baselli, Lucia Augusta, Dellepiane, Rosa Maria, Carrabba, Maria, Fabio, Giovanna, Putti, Maria Caterina, Cinetto, Francesco, Lunardi, Claudio, Gazzurelli, Luisa, Benvenuto, Alessio, Bertolini, Patrizia, Conti, Francesca, Consolini, Rita, Ricci, Silvia, Azzari, Chiara, Leonardi, Lucia, Duse, Marzia, Pulvirenti, Federica, Milito, Cinzia, Quinti, Isabella, Cancrini, Caterina, Finocchi, Andrea, Moschese, Viviana, Cirillo, Emilia, Crescenzi, Ludovica, Spadaro, Giuseppe, Marasco, Carolina, Vacca, Angelo, Cardinale, Fabio, Martire, Baldassare, Trizzino, Antonino, Licciardello, Maria, Cossu, Fausto, Di Matteo, Gigliola, Badolato, Raffaele, Ferrari, Simona, Giliani, Silvia, Pession, Andrea, Ugazio, Alberto, Pignata, Claudio, and Plebani, Alessandro

Published
2020
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28. HSP90β controls NLRP3 autoactivation

Author

Spel, Lotte, primary, Hou, Cyrielle, additional, Theodoropoulou, Katerina, additional, Zaffalon, Léa, additional, Wang, Zhuo, additional, Bertoni, Arinna, additional, Volpi, Stefano, additional, Hofer, Michaël, additional, Gattorno, Marco, additional, and Martinon, Fabio, additional

Published
2024
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29. Vasculitis and vasculopathy associated with inborn errors of immunity: an overview

Author

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

Published
2024
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30. Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome

Author

Montin, Davide, Marolda, Agostina, Licciardi, Francesco, Robasto, Francesca, Di Cesare, Silvia, Ricotti, Emanuela, Ferro, Francesca, Scaioli, Giacomo, Giancotta, Carmela, Amodio, Donato, Conti, Francesca, Giardino, Giuliana, Leonardi, Lucia, Ricci, Silvia, Volpi, Stefano, Baselli, Lucia Augusta, Azzari, Chiara, Bossi, Grazia, Consolini, Rita, Dellepiane, Rosa Maria, Duse, Marzia, Gattorno, Marco, Martire, Baldassarre, Putti, Maria Caterina, Soresina, Annarosa, Plebani, Alessandro, Ramenghi, Ugo, Martino, Silvana, Pignata, Claudio, and Cancrini, Caterina

Published
2019
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31. The Danger Signal Extracellular ATP Is Involved in the Immunomediated Damage of α-Sarcoglycan–Deficient Muscular Dystrophy

Author

Gazzerro, Elisabetta, Baratto, Serena, Assereto, Stefania, Baldassari, Simona, Panicucci, Chiara, Raffaghello, Lizzia, Scudieri, Paolo, De Battista, Davide, Fiorillo, Chiara, Volpi, Stefano, Chaabane, Linda, Malnati, Mauro, Messina, Graziella, Bruzzone, Santina, Traggiai, Elisabetta, Grassi, Fabio, Minetti, Carlo, and Bruno, Claudio

Published
2019
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34. Inborn error of WAS presenting with SARS-CoV-2-related multisystem inflammatory syndrome in children

Author

Drago, Enrico, primary, Fioredda, Francesca, additional, Penco, Federica, additional, Prigione, Ignazia, additional, Bertoni, Arinna, additional, Zotto, Genny Del, additional, Bocca, Paola, additional, Massaccesi, Erika, additional, Lanciotti, Marina, additional, Moratto, Daniele, additional, Thurner, Lorenz, additional, Caorsi, Roberta, additional, Gattorno, Marco, additional, and Volpi, Stefano, additional

Published
2023
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35. Novel heterozygous TREX1 mutation in a juvenile systemic lupus erythematosus patient with severe cutaneous involvement treated successfully with Jak-inhibitors: a case report

Author

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

Published
2023
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36. Supramolecular Nucleic Acid-Based Organosilica Nanoparticles Responsive to Physical and Biological Inputs

Author

Picchetti, Pierre, primary, Volpi, Stefano, additional, Sancho-Albero, María, additional, Rossetti, Marianna, additional, Dore, Michael D., additional, Trinh, Tuan, additional, Biedermann, Frank, additional, Neri, Martina, additional, Bertucci, Alessandro, additional, Porchetta, Alessandro, additional, Corradini, Roberto, additional, Sleiman, Hanadi, additional, and De Cola, Luisa, additional

Published
2023
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38. T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency

Author

Brigida, Immacolata, Zoccolillo, Matteo, Cicalese, Maria Pia, Pfajfer, Laurène, Barzaghi, Federica, Scala, Serena, Oleaga-Quintas, Carmen, Álvarez-Álvarez, Jesus A., Sereni, Lucia, Giannelli, Stefania, Sartirana, Claudia, Dionisio, Francesca, Pavesi, Luca, Benavides-Nieto, Marta, Basso-Ricci, Luca, Capasso, Paola, Mazzi, Benedetta, Rosain, Jeremie, Marcus, Nufar, Lee, Yu Nee, Somech, Raz, Degano, Massimo, Raiola, Giuseppe, Caorsi, Roberta, Picco, Paolo, Moncada Velez, Marcela, Khourieh, Joelle, Arias, Andrés Augusto, Bousfiha, Aziz, Issekutz, Thomas, Issekutz, Andrew, Boisson, Bertrand, Dobbs, Kerry, Villa, Anna, Lombardo, Angelo, Neven, Benedicte, Moshous, Despina, Casanova, Jean-Laurent, Franco, José Luis, Notarangelo, Luigi D., Scielzo, Cristina, Volpi, Stefano, Dupré, Loïc, Bustamante, Jacinta, Gattorno, Marco, and Aiuti, Alessandro

Published
2018
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39. Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome

Author

Volpi, Stefano, Insalaco, Antonella, Caorsi, Roberta, Santori, Elettra, Messia, Virginia, Sacco, Oliviero, Terheggen-Lagro, Suzanne, Cardinale, Fabio, Scarselli, Alessia, Pastorino, Claudia, Moneta, Gianmarco, Cangemi, Giuliana, Passarelli, Chiara, Ricci, Margherita, Girosi, Donata, Derchi, Maria, Bocca, Paola, Diociaiuti, Andrea, El Hachem, May, Cancrini, Caterina, Tomà, Paolo, Granata, Claudio, Ravelli, Angelo, Candotti, Fabio, Picco, Paolo, DeBenedetti, Fabrizio, and Gattorno, Marco

Published
2019
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40. Responsive Nucleic Acid-Based Organosilica Nanoparticles

Author

Picchetti, Pierre, primary, Volpi, Stefano, additional, Rossetti, Marianna, additional, Dore, Michael D., additional, Trinh, Tuan, additional, Biedermann, Frank, additional, Neri, Martina, additional, Bertucci, Alessandro, additional, Porchetta, Alessandro, additional, Corradini, Roberto, additional, Sleiman, Hanadi, additional, and De Cola, Luisa, additional

Published
2023
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42. Blood Lymphocyte Subsets and Proinflammatory Cytokine Profile in ROHHAD(NET) and non-ROHHAD(NET) Obese Individuals

Author

Fava, Daniela, primary, Morandi, Fabio, additional, Prigione, Ignazia, additional, Angelelli, Alessia, additional, Bocca, Paola, additional, Pistorio, Angela, additional, Volpi, Stefano, additional, Patti, Giuseppa, additional, Pepino, Carlotta, additional, Casalini, Emilio, additional, Allegri, Anna Elsa Maria, additional, Di Iorgi, Natascia, additional, d’Annunzio, Giuseppe, additional, Napoli, Flavia, additional, and Maghnie, Mohamad, additional

Published
2023
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44. Proposta di un algoritmo diagnostico per il deficit di Adenosina Deaminasi-2 (DADA2).

Author

Cafaro, Alessia, Grossi, Alice, Barco, Sebastiano, Pigliasco, Federica, Biondi, Margherita, Schena, Francesca, Penco, Federica, Signa, Sara, Drago, Enrico, Matucci-Cerinic, Caterina, Volpi, Stefano, Caorsi, Roberta, Bandettini, Roberto, Ceccherini, Isabella, Gattorno, Marco, and Cangemi, Giuliana

Abstract

Deficiency of Adenosine deaminase 2 (DADA2) is a monogenic autoinflammatory disease caused by homozygous or compound heterozygous mutations in the ADA2 gene (formerly CECR1 Cat Eye Syndrome Chromosome Region 1). Clinical manifestations of DADA2 are highly variable and include systemic inflammation with fever, early stroke, vasculopathy, immune dysregulation (hypogammaglobulinemia, lymphoproliferation, increased rate of infections), and hematologic abnormalities (pure red cell aplasia, bone marrow failure, cytopenias). The most promising treatments are anti-TNF inhibitors, the only drugs that can prevent the serious consequences of the disease. Early diagnosis is therefore critical. DADA2 can be diagnosed by genetic analysis or functional tests (biochemical diagnosis) that allow the enzyme activity to be assayed. At the Giannina Gaslini Institute, a children's hospital in Italy, a method based on liquid chromatography coupled with tandem mass spectrometry has been developed to measure enzyme activity. A diagnostic workflow is adopted at the institute that involves the assay of ADA2 activity followed by genetic confirmation when the biochemical test is altered. [ABSTRACT FROM AUTHOR]

Published
2024
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45. Expert Perspective: Diagnostic Approach to the Autoinflammatory Diseases.

Author

Papa, Riccardo, Caorsi, Roberta, Volpi, Stefano, and Gattorno, Marco

Subjects
AUTOINFLAMMATORY diseases, ETANERCEPT
Abstract

The article reports on expert perspectives on clinical challenges in auto inflammatory diseases. Topics include the diagnostic approach to auto inflammatory diseases, the classification of monogenic auto inflammatory diseases into four groups based on pathogenic mechanism, and the challenges faced by clinicians in diagnosing and managing these conditions, exemplified by a case of ADA2 deficiency.

Published
2024
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46. Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity

Author

Preite, Silvia, Cannons, Jennifer L., Radtke, Andrea J., Vujkovic-Cvijin, Ivan, Gomez-Rodriguez, Julio, Volpi, Stefano, Huang, Bonnie, Cheng, Jun, Collins, Nicholas, Reilley, Julie, Handon, Robin, Dobbs, Kerry, Huq, Lutfi, Raman, Indu, Zhu, Chengsong, Li, Quan-Zhen, Li, Ming O., Pittaluga, Stefania, Uzel, Gulbu, Notarangelo, Luigi D., Belkaid, Yasmine, Germain, Ronald N., and Schwartzberg, Pamela L.

Published
2018
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47. Case Report: Multisystem inflammatory syndrome in children with associated proximal tubular injury

Author

Orsi, Silvia Maria, primary, Pepino, Carlotta, additional, Rossoni, Lisa, additional, Serafino, Margherita, additional, Caorsi, Roberta, additional, Volpi, Stefano, additional, Palmieri, Serena, additional, Faragli, Alessandro, additional, Lugani, Francesca, additional, Bigatti, Carolina, additional, Ghiggeri, Gian Marco, additional, Verrina, Enrico Eugenio, additional, La Porta, Edoardo, additional, and Angeletti, Andrea, additional

Published
2023
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48. ARF1 prevents aberrant type I IFN induction by regulating STING activation and recycling

Author

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

Published
2023
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49. Hematopoietic stem cell transplantation for inborn errors of immunity: 30-year single-center experience

Author

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

Published
2023
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