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112 results on '"Pala, Francesca"'

1. Genetically corrected RAG2-SCID human hematopoietic stem cells restore V(D)J-recombinase and rescue lymphoid deficiency

Author: Pavel-Dinu, Mara, Gardner, Cameron L., Nakauchi, Yusuke, Kawai, Tomoki, Delmonte, Ottavia M., Palterer, Boaz, Bosticardo, Marita, Pala, Francesca, Viel, Sebastien, Malech, Harry L., Ghanim, Hana Y., Bode, Nicole M., Kurgan, Gavin L., Detweiler, Angela M., Vakulskas, Christopher A., Neff, Norma F., Sheikali, Adam, Menezes, Sherah T., Chrobok, Jade, Hernández González, Elaine M., Majeti, Ravindra, Notarangelo, Luigi D., and Porteus, Matthew H.
Published: 2024
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2. Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia

Author: Bosticardo, Marita, Pala, Francesca, Calzoni, Enrica, Delmonte, Ottavia M, Dobbs, Kerry, Gardner, Cameron L, Sacchetti, Nicolo’, Kawai, Tomoki, Garabedian, Elizabeth K, Draper, Debbie, Bergerson, Jenna RE, DeRavin, Suk See, Freeman, Alexandra F, Güngör, Tayfun, Hartog, Nicholas, Holland, Steven M, Kohn, Donald B, Malech, Harry L, Markert, Mary Louise, Weinacht, Katja G, Villa, Anna, Seet, Christopher S, Montel-Hagen, Amelie, Crooks, Gay M, and Notarangelo, Luigi D
Subjects: Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Stem Cell Research - Nonembryonic - Human, Pediatric, Clinical Research, Stem Cell Research, 2.1 Biological and endogenous factors, Aetiology, Antigens, CD34, Cell Differentiation, Hematopoietic Stem Cells, Humans, Lymphopenia, Organoids, Cardiovascular medicine and haematology
Abstract: The study of early T-cell development in humans is challenging because of limited availability of thymic samples and the limitations of in vitro T-cell differentiation assays. We used an artificial thymic organoid (ATO) platform generated by aggregating a DLL4-expressing stromal cell line (MS5-hDLL4) with CD34+ cells isolated from bone marrow or mobilized peripheral blood to study T-cell development from CD34+ cells of patients carrying hematopoietic intrinsic or thymic defects that cause T-cell lymphopenia. We found that AK2 deficiency is associated with decreased cell viability and an early block in T-cell development. We observed a similar defect in a patient carrying a null IL2RG mutation. In contrast, CD34+ cells from a patient carrying a missense IL2RG mutation reached full T-cell maturation, although cell numbers were significantly lower than in controls. CD34+ cells from patients carrying RAG mutations were able to differentiate to CD4+CD8+ cells, but not to CD3+TCRαβ+ cells. Finally, normal T-cell differentiation was observed in a patient with complete DiGeorge syndrome, consistent with the extra-hematopoietic nature of the defect. The ATO system may help determine whether T-cell deficiency reflects hematopoietic or thymic intrinsic abnormalities and define the exact stage at which T-cell differentiation is blocked.
Published: 2020

3. Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19

Author: Sacco, Keith, Castagnoli, Riccardo, Vakkilainen, Svetlana, Liu, Can, Delmonte, Ottavia M., Oguz, Cihan, Kaplan, Ian M., Alehashemi, Sara, Burbelo, Peter D., Bhuyan, Farzana, de Jesus, Adriana A., Dobbs, Kerry, Rosen, Lindsey B., Cheng, Aristine, Shaw, Elana, Vakkilainen, Mikko S., Pala, Francesca, Lack, Justin, Zhang, Yu, Fink, Danielle L., Oikonomou, Vasileios, Snow, Andrew L., Dalgard, Clifton L., Chen, Jinguo, Sellers, Brian A., Montealegre Sanchez, Gina A., Barron, Karyl, Rey-Jurado, Emma, Vial, Cecilia, Poli, Maria Cecilia, Licari, Amelia, Montagna, Daniela, Marseglia, Gian Luigi, Licciardi, Francesco, Ramenghi, Ugo, Discepolo, Valentina, Lo Vecchio, Andrea, Guarino, Alfredo, Eisenstein, Eli M., Imberti, Luisa, Sottini, Alessandra, Biondi, Andrea, Mató, Sayonara, Gerstbacher, Dana, Truong, Meng, Stack, Michael A., Magliocco, Mary, Bosticardo, Marita, Kawai, Tomoki, Danielson, Jeffrey J., Hulett, Tyler, Askenazi, Manor, Hu, Shaohui, Cohen, Jeffrey I., Su, Helen C., Kuhns, Douglas B., Lionakis, Michail S., Snyder, Thomas M., Holland, Steven M., Goldbach-Mansky, Raphaela, Tsang, John S., and Notarangelo, Luigi D.
Published: 2022
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4. Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia.

Author: Gall, Alevtina, Bosticardo, Marita, Ma, Stacey, Chen, Karin, Amini, Kayla, Pala, Francesca, Delmonte, Ottavia M., Wenger, Tara, Bamshad, Michael, Sleasman, John, Blessing, Matthew, van Oers, Nicolai S. C., Notarangelo, Luigi D., and de la Morena, M. Teresa
Subjects: TRANSCRIPTION factors, T cell differentiation, T cell receptors, T cells, KILLER cells, LYMPHOPENIA
Abstract: Pathogenic variants in the transcription factor TP63 are associated with clinically overlapping syndromes including ectrodactyly-ectodermal dysplasia clefting (EEC) and ankyloblepharon-ectodermal defects-cleft lip/palate (AEC). T cell lymphopenia has rarely been described in individuals with TP63 variants and the cause of the T cell defect is unclear. Here, we present a case of a female infant born with TP63-related syndrome and profound T cell lymphopenia, first uncovered through newborn screening. Flow cytometry analysis revealed low CD4+ naïve T cells and nearly absent CD8+ T cells with intact B and NK cell compartments. A de novo heterozygous pathogenic variant c.1040 G>A (C347Y) in exon 8 of TP63 was identified. An artificial thymic organoid system, to assess the intrinsic ability of the patient's hematopoietic cells to develop into T cells, was performed twice using separate peripheral blood samples. Ex vivo T cell differentiation was evident with the artificial organoid system, suggesting that a thymic stromal cell defect may be the cause of the T cell lymphopenia. Consistent with this, interrogation of publicly available data indicated that TP63 expression in the human thymus is restricted to thymic epithelial cells. Based on these data, congenital athymia was suspected and the patient received an allogenic cultured thymus tissue implant (CTTI). This is the first report of suspected congenital athymia and attempted treatment with CTTI associated with TP63 variant. At 9 months post-implant, peripheral lymphocyte analysis revealed measurable T cell receptor excision circles and presence of CD4+ recent thymic emigrants suggestive of early thymopoiesis. She will continue regular monitoring to ensure restoration of T cell immunity. [ABSTRACT FROM AUTHOR]
Published: 2024
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5. Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency

Author: Castiello, M, Brandas, C, Ferrari, S, Porcellini, S, Sacchetti, N, Canarutto, D, Draghici, E, Merelli, I, Barcella, M, Pelosi, G, Vavassori, V, Varesi, A, Jacob, A, Scala, S, Basso Ricci, L, Paulis, M, Strina, D, Di Verniere, M, Sergi Sergi, L, Serafini, M, Holland, S, Bergerson, J, De Ravin, S, Malech, H, Pala, F, Bosticardo, M, Brombin, C, Cugnata, F, Calzoni, E, Crooks, G, Notarangelo, L, Genovese, P, Naldini, L, Villa, A, Castiello, Maria Carmina, Brandas, Chiara, Ferrari, Samuele, Porcellini, Simona, Sacchetti, Nicolò, Canarutto, Daniele, Draghici, Elena, Merelli, Ivan, Barcella, Matteo, Pelosi, Gabriele, Vavassori, Valentina, Varesi, Angelica, Jacob, Aurelien, Scala, Serena, Basso Ricci, Luca, Paulis, Marianna, Strina, Dario, Di Verniere, Martina, Sergi Sergi, Lucia, Serafini, Marta, Holland, Steven M., Bergerson, Jenna R. E., De Ravin, Suk See, Malech, Harry L., Pala, Francesca, Bosticardo, Marita, Brombin, Chiara, Cugnata, Federica, Calzoni, Enrica, Crooks, Gay M., Notarangelo, Luigi D., Genovese, Pietro, Naldini, Luigi, Villa, Anna, Castiello, M, Brandas, C, Ferrari, S, Porcellini, S, Sacchetti, N, Canarutto, D, Draghici, E, Merelli, I, Barcella, M, Pelosi, G, Vavassori, V, Varesi, A, Jacob, A, Scala, S, Basso Ricci, L, Paulis, M, Strina, D, Di Verniere, M, Sergi Sergi, L, Serafini, M, Holland, S, Bergerson, J, De Ravin, S, Malech, H, Pala, F, Bosticardo, M, Brombin, C, Cugnata, F, Calzoni, E, Crooks, G, Notarangelo, L, Genovese, P, Naldini, L, Villa, A, Castiello, Maria Carmina, Brandas, Chiara, Ferrari, Samuele, Porcellini, Simona, Sacchetti, Nicolò, Canarutto, Daniele, Draghici, Elena, Merelli, Ivan, Barcella, Matteo, Pelosi, Gabriele, Vavassori, Valentina, Varesi, Angelica, Jacob, Aurelien, Scala, Serena, Basso Ricci, Luca, Paulis, Marianna, Strina, Dario, Di Verniere, Martina, Sergi Sergi, Lucia, Serafini, Marta, Holland, Steven M., Bergerson, Jenna R. E., De Ravin, Suk See, Malech, Harry L., Pala, Francesca, Bosticardo, Marita, Brombin, Chiara, Cugnata, Federica, Calzoni, Enrica, Crooks, Gay M., Notarangelo, Luigi D., Genovese, Pietro, Naldini, Luigi, and Villa, Anna
Abstract: Recombination activating genes (RAGs) are tightly regulated during lymphoid differentiation, and their mutations cause a spectrum of severe immunological disorders. Hematopoietic stem and progenitor cell (HSPC) transplantation is the treatment of choice but is limited by donor availability and toxicity. To overcome these issues, we developed gene editing strategies targeting a corrective sequence into the human RAG1 gene by homology-directed repair (HDR) and validated them by tailored two-dimensional, three-dimensional, and in vivo xenotransplant platforms to assess rescue of expression and function. Whereas integration into intron 1 of RAG1 achieved suboptimal correction, in-frame insertion into exon 2 drove physiologic human RAG1 expression and activity, allowing disruption of the dominant-negative effects of unrepaired hypomorphic alleles. Enhanced HDR-mediated gene editing enabled the correction of human RAG1 in HSPCs from patients with hypomorphic RAG1 mutations to overcome T and B cell differentiation blocks. Gene correction efficiency exceeded the minimal proportion of functional HSPCs required to rescue immunodeficiency in Rag1(-/- )mice, supporting the clinical translation of HSPC gene editing for the treatment of RAG1 deficiency.
Published: 2024

6. Mulibrey nanism and immunological complications: a comprehensive case report and literature review

Author: Gazzin, Andrea, primary, Pala, Francesca, additional, Bosticardo, Marita, additional, Niemela, Julie, additional, Stoddard, Jennifer, additional, Biasin, Eleonora, additional, Quarello, Paola, additional, Carli, Diana, additional, Ferroni, Francesca, additional, Delmonte, Ottavia M., additional, Montin, Davide, additional, Rosenzweig, Sergio D., additional, Licciardi, Francesco, additional, and Notarangelo, Luigi D., additional
Published: 2023
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7. Characterization of the antispike IgG immune response to COVID-19 vaccines in people with a wide variety of immunodeficiencies

Author: Zendt, Mackenzie, primary, Bustos Carrillo, Fausto A., additional, Kelly, Sophie, additional, Saturday, Taylor, additional, DeGrange, Maureen, additional, Ginigeme, Anita, additional, Wu, Lurline, additional, Callier, Viviane, additional, Ortega-Villa, Ana, additional, Faust, Mondreakest, additional, Chang-Rabley, Emma, additional, Bugal, Kara, additional, Kenney, Heather, additional, Khil, Pavel, additional, Youn, Jung-Ho, additional, Osei, Gloria, additional, Regmi, Pravesh, additional, Anderson, Victoria, additional, Bosticardo, Marita, additional, Daub, Janine, additional, DiMaggio, Thomas, additional, Kreuzburg, Samantha, additional, Pala, Francesca, additional, Pfister, Justina, additional, Treat, Jennifer, additional, Ulrick, Jean, additional, Karkanitsa, Maria, additional, Kalish, Heather, additional, Kuhns, Douglas B., additional, Priel, Debra L., additional, Fink, Danielle L., additional, Tsang, John S., additional, Sparks, Rachel, additional, Uzel, Gulbu, additional, Waldman, Meryl A., additional, Zerbe, Christa S., additional, Delmonte, Ottavia M., additional, Bergerson, Jenna R. E., additional, Das, Sanchita, additional, Freeman, Alexandra F., additional, Lionakis, Michail S., additional, Sadtler, Kaitlyn, additional, van Doremalen, Neeltje, additional, Munster, Vincent, additional, Notarangelo, Luigi D., additional, Holland, Steven M., additional, and Ricotta, Emily E., additional
Published: 2023
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8. Editorial: Viral escape of mucosal immunity in sexually transmitted diseases

Author: Criscuolo, Elena, primary, Pala, Francesca, additional, Siracusano, Gabriel, additional, and Venuti, Assunta, additional
Published: 2023
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9. Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children

Author: Howard Hughes Medical Institute, Rockefeller University, St. Giles Foundation, National Institutes of Health (US), Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Fundación Mapfre, Cabildo de Tenerife, Fundació La Marató de TV3, Centro de Investigación Biomédica en Red Enfermedades Raras (España), Consejo Superior de Investigaciones Científicas (España), European Commission, Pérez-Tur, Jordi [0000-0002-9111-1712], Lee, Danyel, Le Pen, Jeremie, Yatim, Ahmad, Dong, Beihua, Aquino, Yann, Ogishi, Masato, Pescarmona, Remi, Talouarn, Estelle, Rinchai, Darawan, Zhang, Peng, Perret, Magali, Rice, Charles M., Silverman, Robert H., Zhang, Shen-Ying, Casanova, Jean-Laurent, Liu, Zhiyong, Jordan, Iolanda, Bozdemir, Sefika Elmas, Bayhan, Gulsum Iclal, Beaufils, Camille, Bizien, Lucy, Bisiaux, Aurelie, Lei, Weite, Hasan, Milena, Chen, Jie, Gaughan, Christina, Asthana, Abhishek, Libri, Valentina, Luna, Joseph M., Jaffre, Fabrice, Hoffmann, H-Heinrich, Michailidis, Eleftherios, Moreews, Marion, Seeleuthner, Yoann, Bilguvar, Kaya, Mane, Shrikant, Flores, Carlos, Zhang, Yu, Arias, Andres A., Bailey, Rasheed, Schluter, Agatha, Milisavljevic, Baptiste, Bigio, Benedetta, Le Voyer, Tom, Materna, Marie, Gervais, Adrian, Moncada-Velez, Marcela, Pala, Francesca, Lazarov, Tomi, Levy, Romain, Neehus, Anna-Lena, Rosain, Jeremie, Peel, Jessica, Chan, Yi-Hao, Morin, Marie-Paule, Pino-Ramírez, Rosa María, Belkaya, Serkan, Lorenzo, Lazaro, Anton, Jordi, Delafontaine, Selket, Toubiana, Julie, Bajolle, Fanny, Fumado, Victoria, DeDiego, Marta L., Fidouh, Nadhira, Rozenberg, Flore, Pérez-Tur, Jordi, Chen, Shuibing, Evans, Todd, Geissmann, Frederic, Lebon, Pierre, Weiss, Susan R., Bonnet, Damien, Duval, Xavier, Pan-Hammarström, Qiang, Planas, Anna M., Meyts, Isabelle, Haerynck, Filomeen, Pujol, Aurora, Sancho-Shimizu, Vanessa, Dalgard, Clifford L., Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Boisson, Bertrand, Maniatis, Tom, Zhang, Qian, Bastard, Paul, Notarangelo, Luigi, Beziat, Vivien, Pérez de Diego, Rebeca, Rodriguez-Gallego, Carlos, Su, Helen C., Lifton, Richard P, Jouanguy, Emmanuelle, Cobat, Aurelie, Alsina, Laia, Keles, Sevgi, Haddad, Elie, Abel, Laurent, Belot, Alexandre, Quintana-Murci, Lluis, Howard Hughes Medical Institute, Rockefeller University, St. Giles Foundation, National Institutes of Health (US), Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Fundación Mapfre, Cabildo de Tenerife, Fundació La Marató de TV3, Centro de Investigación Biomédica en Red Enfermedades Raras (España), Consejo Superior de Investigaciones Científicas (España), European Commission, Pérez-Tur, Jordi [0000-0002-9111-1712], Lee, Danyel, Le Pen, Jeremie, Yatim, Ahmad, Dong, Beihua, Aquino, Yann, Ogishi, Masato, Pescarmona, Remi, Talouarn, Estelle, Rinchai, Darawan, Zhang, Peng, Perret, Magali, Rice, Charles M., Silverman, Robert H., Zhang, Shen-Ying, Casanova, Jean-Laurent, Liu, Zhiyong, Jordan, Iolanda, Bozdemir, Sefika Elmas, Bayhan, Gulsum Iclal, Beaufils, Camille, Bizien, Lucy, Bisiaux, Aurelie, Lei, Weite, Hasan, Milena, Chen, Jie, Gaughan, Christina, Asthana, Abhishek, Libri, Valentina, Luna, Joseph M., Jaffre, Fabrice, Hoffmann, H-Heinrich, Michailidis, Eleftherios, Moreews, Marion, Seeleuthner, Yoann, Bilguvar, Kaya, Mane, Shrikant, Flores, Carlos, Zhang, Yu, Arias, Andres A., Bailey, Rasheed, Schluter, Agatha, Milisavljevic, Baptiste, Bigio, Benedetta, Le Voyer, Tom, Materna, Marie, Gervais, Adrian, Moncada-Velez, Marcela, Pala, Francesca, Lazarov, Tomi, Levy, Romain, Neehus, Anna-Lena, Rosain, Jeremie, Peel, Jessica, Chan, Yi-Hao, Morin, Marie-Paule, Pino-Ramírez, Rosa María, Belkaya, Serkan, Lorenzo, Lazaro, Anton, Jordi, Delafontaine, Selket, Toubiana, Julie, Bajolle, Fanny, Fumado, Victoria, DeDiego, Marta L., Fidouh, Nadhira, Rozenberg, Flore, Pérez-Tur, Jordi, Chen, Shuibing, Evans, Todd, Geissmann, Frederic, Lebon, Pierre, Weiss, Susan R., Bonnet, Damien, Duval, Xavier, Pan-Hammarström, Qiang, Planas, Anna M., Meyts, Isabelle, Haerynck, Filomeen, Pujol, Aurora, Sancho-Shimizu, Vanessa, Dalgard, Clifford L., Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Boisson, Bertrand, Maniatis, Tom, Zhang, Qian, Bastard, Paul, Notarangelo, Luigi, Beziat, Vivien, Pérez de Diego, Rebeca, Rodriguez-Gallego, Carlos, Su, Helen C., Lifton, Richard P, Jouanguy, Emmanuelle, Cobat, Aurelie, Alsina, Laia, Keles, Sevgi, Haddad, Elie, Abel, Laurent, Belot, Alexandre, and Quintana-Murci, Lluis
Abstract: Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or RNASEL in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)-sensing OAS1 and OAS2 generate 2'-5'-linked oligoadenylates (2-5A) that activate the single-stranded RNA-degrading ribonuclease L (RNase L). Monocytic cell lines and primary myeloid cells with OAS1, OAS2, or RNase L deficiencies produce excessive amounts of inflammatory cytokines upon dsRNA or severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) stimulation. Exogenous 2-5A suppresses cytokine production in OAS1-deficient but not RNase L-deficient cells. Cytokine production in RNase L-deficient cells is impaired by MDA5 or RIG-I deficiency and abolished by mitochondrial antiviral-signaling protein (MAVS) deficiency. Recessive OAS-RNase L deficiencies in these patients unleash the production of SARS-CoV-2-triggered, MAVS-mediated inflammatory cytokines by mononuclear phagocytes, thereby underlying MIS-C
Published: 2023

10. Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children

Author: Lee, Danyel, Le Pen, Jérémie, Yatim, Ahmad, Dong, Beihua, Aquino, Yann, Ogishi, Masato, Pescarmona, Rémi, Talouarn, Estelle, Rinchai, Darawan, Zhang, Peng, Perret, Magali, Liu, Zhiyong, Jordan, Iolanda, Elmas Bozdemir, Sefika, Bayhan, Gulsum Iclal, Beaufils, Camille, Bizien, Lucy, Bisiaux, Aurelie, Lei, Weite, Hasan, Milena, Chen, Jie, Gaughan, Christina, Asthana, Abhishek, Libri, Valentina, Luna, Joseph, Jaffré, Fabrice, Hoffmann, H.-Heinrich, Michailidis, Eleftherios, Moreews, Marion, Seeleuthner, Yoann, Bilguvar, Kaya, Mane, Shrikant, Flores, Carlos, Zhang, Yu, Arias, Andrés, Bailey, Rasheed, Schlüter, Agatha, Milisavljevic, Baptiste, Bigio, Benedetta, Le Voyer, Tom, Materna, Marie, Gervais, Adrian, Moncada-Velez, Marcela, Pala, Francesca, Lazarov, Tomi, Levy, Romain, Neehus, Anna-Lena, Rosain, Jérémie, Peel, Jessica, Chan, Yi-Hao, Morin, Marie-Paule, Pino-Ramirez, Rosa Maria, Belkaya, Serkan, Lorenzo, Lazaro, Anton, Jordi, Delafontaine, Selket, Toubiana, Julie, Bajolle, Fanny, Fumadó, Victoria, Dediego, Marta, Fidouh, Nadhira, Rozenberg, Flore, Pérez-Tur, Jordi, Chen, Shuibing, Evans, Todd, Geissmann, Frédéric, Lebon, Pierre, Weiss, Susan, Bonnet, Damien, Duval, Xavier, Pan-Hammarström, Qiang, Planas, Anna, Meyts, Isabelle, Haerynck, Filomeen, Pujol, Aurora, Sancho-Shimizu, Vanessa, Dalgard, Clifford, Bustamante, Jacinta, Puel, Anne, Boisson-Dupuis, Stéphanie, Boisson, Bertrand, Maniatis, Tom, Zhang, Qian, Bastard, Paul, Notarangelo, Luigi, Béziat, Vivien, Perez de Diego, Rebeca, Rodriguez-Gallego, Carlos, Su, Helen, Lifton, Richard, Jouanguy, Emmanuelle, Cobat, Aurélie, Alsina, Laia, Keles, Sevgi, Haddad, Elie, Abel, Laurent, Belot, Alexandre, Quintana-Murci, Lluis, Rice, Charles, Silverman, Robert, Zhang, Shen-Ying, Casanova, Jean-Laurent, Alavoine, Loubna, Behillil, Sylvie, Burdet, Charles, Charpentier, Charlotte, Dechanet, Aline, Descamps, Diane, Ecobichon, Jean-Luc, Enouf, Vincent, Frezouls, Wahiba, Houhou, Nadhira, Kafif, Ouifiya, Lehacaut, Jonathan, Letrou, Sophie, Lina, Bruno, Lucet, Jean-Christophe, Manchon, Pauline, Nouroudine, Mariama, Piquard, Valentine, Quintin, Caroline, Thy, Michael, Tubiana, Sarah, van der Werf, Sylvie, Vignali, Valérie, Visseaux, Benoit, Yazdanpanah, Yazdan, Chahine, Abir, Waucquier, Nawal, Migaud, Maria-Claire, Deplanque, Dominique, Djossou, Félix, Mergeay-Fabre, Mayka, Lucarelli, Aude, Demar, Magalie, Bruneau, Léa, Gérardin, Patrick, Maillot, Adrien, Payet, Christine, Laviolle, Bruno, Laine, Fabrice, Paris, Christophe, Desille-Dugast, Mireille, Fouchard, Julie, Malvy, Denis, Nguyen, Duc, Pistone, Thierry, Perreau, Pauline, Gissot, Valérie, Le Goas, Carole, Montagne, Samatha, Richard, Lucie, Chirouze, Catherine, Bouiller, Kévin, Desmarets, Maxime, Meunier, Alexandre, Lefèvre, Benjamin, Jeulin, Hélène, Legrand, Karine, Lomazzi, Sandra, Tardy, Bernard, Gagneux-Brunon, Amandine, Bertholon, Frédérique, Botelho-Nevers, Elisabeth, Christelle, Kouakam, Nicolas, Leturque, Roufai, Layidé, Amat, Karine, Couffin-Cadiergues, Sandrine, Espérou, Hélène, Hendou, Samia, Abolhassani, Hassan, Aguilera-Albesa, Sergio, Aiuti, Alessandro, Akcan, Ozge Metin, Akcay, Nihal, Alkan, Gulsum, Alkhater, Suzan, Allende, Luis Miguel, Alper, Yosunkaya, Amenzoui, Naima, Anderson, Mark, Arkin, Lisa, Aubart, Melodie, Avramenko, Iryna, Aydemir, Şehnaz, Gayretli Aydin, Zeynep Gökçe, Aytekin, Caner, Aytekin, Gökhan, Erol Aytekin, Selma, Bando, Silvia Yumi, Beland, Kathie, Biggs, Catherine, Bilbao Aburto, Agurtzane, Blanchard-Rohner, Geraldine, Blázquez-Gamero, Daniel, Bloomfield, Marketa, Bogunovic, Dusan, Bondarenko, Anastasia, Borghesi, Alessandro, Bousfiha, Amed Aziz, Boyarchuk, Oksana, Brodin, Petter, Bryceson, Yenan, Bucciol, Giorgia, Calcaterra, Valeria, Casari, Giorgio, Cavalcanti, Andre, Celik, Jale Bengi, Chrousos, George, Colobran, Roger, Condino-Neto, Antonio, Conti, Francesca, Cooper, Megan, Coskuner, Taner, Cyrus, Cyril, D’auria, Enza, Drolet, Beth, Bursal Duramaz, Burcu, El Zein, Loubna, Elnagdy, Marwa, Emiroglu, Melike, Erdeniz, Emine Hafize, Fabi, Marianna, Baris Feldman, Hagit, Fellay, Jacques, Fencl, Filip, Filippatos, Filippos, Freiss, Julie, Fremuth, Jiri, Gagro, Alenka, Garcia-Solis, Blanca, Vergine, Gianluca, González-Montelongo, Rafaela, Gul, Yahya, Gülhan, Belgin, Gultekin, Sara Sebnem Kilic, Gut, Marta, Halwani, Rabih, Hammarström, Lennart, Hatipoğlu, Nevin, Heath, James, Henrickson, Sarah, Hernandez-Brito, Elisa, Hoffman, Ilse, Hoste, Levi, Hsieh, Elena, Íñigo-Campos, Antonio, Itan, Yuval, Jabandziev, Petr, Kandemir, Bahar, Kanık-Yüksek, Saliha, Kapakli, Hasan, Karbuz, Adem, Kasapcopur, Ozgur, Kechiche, Robin, Kendir Demirkol, Yasemin, Kilic, Omer, Hansen, Stella Kim, Klocperk, Adam, Lau, Yu-Lung, Lebl, Jan, Lorenzo-Salazar, José, Lucas, Carrie, Maglorius, Majistor, Marque, Laura, Novoa Medina, Yeray, Montesdeoca Melián, Abián, Mentis, Alexios-Fotios, Pato, Michele, Michos, Athanasios, Milner, Joshua, Mogensen, Trine, Muñoz-Barrera, Adrián, Nepesov, Serdar, Farela Neves, João, Ng, Ashley, Ng, Lisa, Novelli, Antonio, Novelli, Giuseppe, Oz, Fatma Nur, Ocejo-Viñals, J. Gonzalo, Okada, Satoshi, Orbak, Zerrin, Kilic, Ahmet Osman, Ouair, Hind, Öz, Şadiye Kübra Tüter, Özçelik, Tayfun, Özkan, Esra Akyüz, Parlakay, Aslınur Özkaya, Pato, Carlos, Paz-Artal, Estela, Pelham, Simon, Pellier, Isabelle, Philippot, Quentin, Planas-Serra, Laura, Plassart, Samira, Pokorna, Petra, Polat, Meltem, Poli, Cecilia, Prando, Carolina, Renia, Laurent, Rivière, Jacques, Rodríguez-Palmero, Agustí, Roussel, Lucie, Rubio-Rodriguez, Luis, Salifu, Moro, Sasek, Lumir, Sasia, Laura, Scherbina, Anna, Schmitt, Erica, Sediva, Anna, Sevketoglu, Esra, Slaba, Katerina, Slaby, Ondrej, Sobh, Ali, Solé-Violán, Jordi, Soler-Palacin, Pere, de Somer, Lien, Sözeri, Betül, Spaan, András, Stepanovskiy, Yuriy, Tangye, Stuart, Tanir, Gonul, Tatsi, Elizabeth Barbara, Thorball, Christian, Hancerli Torun, Selda, Turvey, Stuart, Uddin, Mohammed, Uyar, Emel, Valencia-Ramos, Juan, van den Rym, Ana Maria, Vatansev, Hulya, Castillo de Vera, Martín, Vermeulen, François, Vinh, Donald, Volokha, Alla, von Bernuth, Horst, Wouters, Carine, Yahşi, Aysun, Yarar, Volkan, Yesilbas, Osman, Yıldız, Mehmet, Zatz, Mayana, Zawadzki, Pawel, Zuccotti, Gianvincenzo, Rockefeller University [New York], Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Institut de génétique humaine (IGH), Université de Montpellier (UM)-Centre National de la Recherche Scientifique (CNRS), Génomique évolutive, modélisation et santé (GEMS), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre de référence des rhumatismes inflammatoires et maladies auto-immunes systémiques rares de l’enfant / National Referee Centre for Rheumatic and AutoImmune and Systemic Diseases in Children [Lyon] (RAISE), Hospices Civils de Lyon (HCL), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Génétique Physiologie et Systèmes d'Elevage (GenPhySE ), Ecole Nationale Vétérinaire de Toulouse (ENVT), Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National Polytechnique (Toulouse) (Toulouse INP), Université de Toulouse (UT)-Université de Toulouse (UT)-École nationale supérieure agronomique de Toulouse (ENSAT), Université de Toulouse (UT)-Université de Toulouse (UT)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Sidra Medicine [Doha, Qatar], BIOASTER Technology Research Institute, Lyon, France, St. Giles Laboratory of Human Genetics of Infectious Diseases, Department of Paediatrics and Intensive Care, Hospital Universitari Sant Joan de Deu, Human genetics of infectious diseases : Mendelian predisposition (Equipe Inserm U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Département de Pédiatrie et maladies infectieuses [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Génétique Evolutive Humaine - Human Evolutionary Genetics, Centre de Recherche Translationnelle - Center for Translational Science (CRT), Institut Pasteur [Paris] (IP)-Université Paris Cité (UPCité), Shanghai Jiaotong University, Sheffield Hallam University, Institut Jean Lamour (IJL), Institut de Chimie du CNRS (INC)-Université de Lorraine (UL)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Infection, Anti-microbiens, Modélisation, Evolution (IAME (UMR_S_1137 / U1137)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité)-Université Sorbonne Paris Nord, Centre d'investigation Clinique [CHU Bichat] - Épidémiologie clinique (CIC 1425), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Biodiversité et Epidémiologie des Bactéries pathogènes - Biodiversity and Epidemiology of Bacterial Pathogens, Centre d'Investigation Clinique - Innovation Technologique de Lille - CIC 1403 - CIC 9301 (CIC Lille), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre d'Investigation Clinique Antilles-Guyane (CIC - Antilles Guyane), Université des Antilles et de la Guyane (UAG)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pointe-à-Pitre/Abymes [Guadeloupe] -CHU de Fort de France-Centre Hospitalier Andrée Rosemon [Cayenne, Guyane Française], Centre d'Investigation Clinique de La Réunion - INSERM (CIC 1410), Université de La Réunion (UR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Centre d'Investigation Clinique [Rennes] (CIC), Université de Rennes (UR)-Hôpital Pontchaillou-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Pontchaillou [Rennes], The Laboratory of Human Genetics of Infectious Diseases is supported by the Howard Hughes Medical Institute, the Rockefeller University, the St. Giles Foundation, the National Institutes of Health (NIH) (R01AI088364 and R21AI160576), the National Center for Advancing Translational Sciences (NCATS), NIH Clinical and Translational Science Award (CTSA) program (UL1TR001866), the Yale Center for Mendelian Genomics and the GSP Coordinating Center funded by the National Human Genome Research Institute (NHGRI) (UM1HG006504 and U24HG008956), the Yale High-Performance Computing Center (S10OD018521), the Fisher Center for Alzheimer’s Research Foundation, the Meyer Foundation, the JBP Foundation, the French National Research Agency (ANR) under the 'Investments for the Future' program (ANR-10-IAHU-01), the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID), the French Foundation for Medical Research (FRM) (EQU201903007798), the ANR GenMISC (ANR-21-COVR-039), the ANRS-COV05, ANR GENVIR (ANR-20-CE93-003) and ANR AABIFNCOV (ANR-20-CO11-0001) projects, the ANR-RHU program (ANR-21-RHUS-08), the European Union’s Horizon 2020 research and innovation program under grant agreement 824110 (EASI-genomics), the HORIZON-HLTH-2021-DISEASE-04 program under grant agreement 01057100 (UNDINE), the ANR-RHU Program ANR-21-RHUS-08 (COVIFERON), the Square Foundation, Grandir – Fonds de solidarité pour l’enfance, the Fondation du Souffle, the SCOR Corporate Foundation for Science, the French Ministry of Higher Education, Research, and Innovation (MESRI-COVID-19), Institut National de la Santé et de la Recherche Médicale (INSERM), and Paris Cité University. We acknowledge support from the National Institute of Allergy and Infectious Diseases (NIAID) of the NIH under award R01AI104887 to R.H.S. and S.R.W. The Laboratory of Human Evolutionary Genetics (Institut Pasteur) is supported by the Institut Pasteur, the Collège de France, the French Government’s Investissement d’Avenir program, Laboratoires d’Excellence 'Integrative Biology of Emerging Infectious Diseases' (ANR-10-LABX-62-IBEID) and 'Milieu Intérieur' (ANR-10-LABX-69-01), the Fondation de France (no. 00106080), the FRM (Equipe FRM DEQ20180339214 team), and the ANR COVID-19-POPCELL (ANR-21-CO14-0003-01). A.Puj. is supported by ACCI20-759 CIBERER, EasiGenomics H2020 Marató TV3 COVID 2021-31-33, the HORIZON-HLTH-2021-ID: 101057100 (UNDINE), the Horizon 2020 program under grant no. 824110 (EasiGenomics grant no. COVID-19/PID12342), and the CERCA Program/Generalitat de Catalunya. The Canarian Health System sequencing hub was funded by the Instituto de Salud Carlos III (COV20_01333 and COV20_01334), the Spanish Ministry of Science and Innovation (RTC-2017-6471-1, AEI/FEDER, UE), Fundación MAPFRE Guanarteme (OA21/131), and Cabildo Insular de Tenerife (CGIEU0000219140 and 'Apuestas científicas del ITER para colaborar en la lucha contra la COVID-19'). The CoV-Contact Cohort was funded by the French Ministry of Health and the European Commission (RECOVER project). Our studies are also funded by the Ministry of Health of the Czech Republic Conceptual Development of Research Organization (FNBr, 65269705) and ANID COVID0999 funding in Chile. G. Novelli and A. Novelli are supported by Regione Lazio (Research Group Projects 2020) No. A0375-2020-36663, GecoBiomark. A.M.P., M.L.D., and J.P.-T. are supported by the Inmungen-CoV2 project of CSIC. This work was supported in part by the Intramural Research Program of the NIAID, NIH. The research work of A.M.P, M.L.D., and J.P.-T. was funded by the European Commission –NextGenerationEU (Regulation EU 2020/2094), through CSIC’s Global Health Platform (PTI Salud Global). I.M. is a senior clinical investigator at FWO Vlaanderen supported by a VIB GC PID grant, by FWO grants G0B5120N (DADA2) and G0E8420N, and by the Jeffrey Modell Foundation. I.M. holds an ERC-StG MORE2ADA2 grant and is also supported by ERN-RITA. A.Y. is supported by fellowships from the European Academy of Dermatology and Venereology and the Swiss National Science Foundation and by an Early Career Award from the Thrasher Research Fund. Y.-H.C. is supported by an A*STAR International Fellowship (AIF). M.O. was supported by the David Rockefeller Graduate Program, the New York Hideyo Noguchi Memorial Society (HNMS), the Funai Foundation for Information Technology (FFIT), the Honjo International Scholarship Foundation (HISF), and the National Cancer Institute (NCI) F99 Award (F99CA274708). A.A.A. was supported by Ministerio de Ciencia Tecnología e Innovación MINCIENCIAS, Colombia (111584467551/CT 415-2020). D.L. is supported by a fellowship from the FRM for medical residents and fellows. E.H. received funding from the Bank of Montreal Chair of Pediatric Immunology, Foundation of CHU Sainte-Justine, CIHR grants PCC-466901 and MM1-181123, and a Canadian Pediatric Society IMPACT study. Q.P.-H. received funding from the European Union’s Horizon 2020 research and innovation program (ATAC, 101003650), the Swedish Research Council, and the Knut and Alice Wallenberg Foundation. Work in the Laboratory of Virology and Infectious Disease was supported by NIH grants P01AI138398-S1, 2U19AI111825, R01AI091707-10S1, and R01AI161444, a George Mason University Fast Grant, the G. Harold and Leila Y. Mathers Charitable Foundation, the Meyer Foundation, and the Bawd Foundation. R.P.L. is on the board of directors of both Roche and the Roche subsidiary Genentech. J.L.P. was supported by a Francois Wallace Monahan Postdoctoral Fellowship at the Rockefeller University and by a European Molecular Biology Organization Long-Term Fellowship (ALTF 380-2018)., ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-21-COVR-0039,GenMIS-C,Recherche des Déficits immunitaires innées monogéniques prédisposant au syndrome inflammatoire multisystémique chez l'enfant.(2021), ANR-20-CE93-0003,GENVIR,Analyse multi-omique de l'immunité anti-virale: de l'identification des circuits biologiques pertinents à la découverte de défauts monogéniques héréditaires de l'immunité chez les patients avec infections virales sévères(2020), ANR-20-CO11-0001,AABIFNCOV,Bases génétiques et immunologiques des auto-anticorps contre les interférons de type I prédisposant aux formes sévères de COVID-19.(2020), ANR-21-RHUS-0008,COVIFERON,Covid-19 and interferons: from discovery to therapy(2021), ANR-10-LABX-0069,MILIEU INTERIEUR,GENETIC & ENVIRONMENTAL CONTROL OF IMMUNE PHENOTYPE VARIANCE: ESTABLISHING A PATH TOWARDS PERSONALIZED MEDICINE(2010), ANR-21-CO14-0003,COVID-19-POPCELL,Facteurs génétiques et infectieux à l'origine de la variabilité populationnelle de la réponse immunitaire à l'infection par le SARS-CoV-2(2021), European Project: 824110,H2020-INFRAIA-2018-1,EASI-Genomics(2019), European Project: 101057100,UNDINE, Howard Hughes Medical Institute, Rockefeller University, St. Giles Foundation, National Institutes of Health (US), Instituto de Salud Carlos III, Ministerio de Ciencia e Innovación (España), Fundación Mapfre, Cabildo de Tenerife, Fundació La Marató de TV3, Centro de Investigación Biomédica en Red Enfermedades Raras (España), Consejo Superior de Investigaciones Científicas (España), European Commission, and Pérez-Tur, Jordi
Subjects: Multidisciplinary, Settore MED/03, [SDV]Life Sciences [q-bio], Medicine and Health Sciences, CoV-Contact Cohort§
Abstract: 62 páginas, 5 figuras, 2 tablas, Multisystem inflammatory syndrome in children (MIS-C) is a rare and severe condition that follows benign COVID-19. We report autosomal recessive deficiencies of OAS1, OAS2, or RNASEL in five unrelated children with MIS-C. The cytosolic double-stranded RNA (dsRNA)-sensing OAS1 and OAS2 generate 2'-5'-linked oligoadenylates (2-5A) that activate the single-stranded RNA-degrading ribonuclease L (RNase L). Monocytic cell lines and primary myeloid cells with OAS1, OAS2, or RNase L deficiencies produce excessive amounts of inflammatory cytokines upon dsRNA or severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) stimulation. Exogenous 2-5A suppresses cytokine production in OAS1-deficient but not RNase L-deficient cells. Cytokine production in RNase L-deficient cells is impaired by MDA5 or RIG-I deficiency and abolished by mitochondrial antiviral-signaling protein (MAVS) deficiency. Recessive OAS-RNase L deficiencies in these patients unleash the production of SARS-CoV-2-triggered, MAVS-mediated inflammatory cytokines by mononuclear phagocytes, thereby underlying MIS-C, The Laboratory of Human Genetics of Infectious Diseases is supported by the Howard Hughes Medical Institute, the Rockefeller University, the St. Giles Foundation, the National Institutes of Health (NIH) (R01AI088364 and R21AI160576), the National Center for Advancing Translational Sciences (NCATS), NIH Clinical and Translational Science Award (CTSA) program (UL1TR001866), the Yale Center for Mendelian Genomics and the GSP Coordinating Center funded by the National Human Genome Research Institute (NHGRI) (UM1HG006504 and U24HG008956), the Yale High-Performance Computing Center (S10OD018521), the Fisher Center for Alzheimer’s Research Foundation, the Meyer Foundation, the JBP Foundation, the French National Research Agency (ANR) under the “Investments for the Future” program (ANR-10-IAHU-01), the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10- LABX-62-IBEID), the French Foundation for Medical Research (FRM) (EQU201903007798), the ANR GenMISC (ANR-21-COVR-039), the ANRS-COV05, ANR GENVIR (ANR-20-CE93-003) and ANR AABIFNCOV (ANR-20-CO11-0001) projects, the ANR-RHU program (ANR-21-RHUS-08), the European Union’s Horizon 2020 research and innovation program under grant agreement 824110 (EASI-genomics), the HORIZON-HLTH-2021-DISEASE-04 program under grant agreement 01057100 (UNDINE), the ANR-RHU Program ANR-21- RHUS-08 (COVIFERON), the Square Foundation, Grandir – Fonds de solidarité pour l’enfance, the Fondation du Souffle, the SCOR Corporate Foundation for Science, the French Ministry of Higher Education, Research, and Innovation (MESRI-COVID-19), Institut National de la Santé et de la Recherche Médicale (INSERM), and Paris Cité University. We acknowledge support from the National Institute of Allergy and Infectious Diseases (NIAID) of the NIH under award R01AI104887 to R.H.S. and S.R.W. The Laboratory of Human Evolutionary Genetics (Institut Pasteur) is supported by the Institut Pasteur, the Collège de France, the French Government’s Investissement d’Avenir program, Laboratoires d’Excellence “Integrative Biology of Emerging Infectious Diseases” (ANR-10-LABX-62-IBEID) and “Milieu Intérieur” (ANR-10-LABX-69-01), the Fondation de France (no. 00106080), the FRM (Equipe FRM DEQ20180339214 team), and the ANR COVID-19-POPCELL (ANR-21-CO14-0003-01). A.Puj. is supported by ACCI20-759 CIBERER, EasiGenomics H2020 Marató TV3 COVID 2021-31-33, the HORIZON-HLTH-2021-ID: 101057100 (UNDINE), the Horizon 2020 program under grant no. 824110 (EasiGenomics grant no. COVID-19/PID12342), and the CERCA Program/Generalitat de Catalunya. The Canarian Health System sequencing hub was funded by the Instituto de Salud Carlos III (COV20_01333 and COV20_01334), the Spanish Ministry of Science and Innovation (RTC-2017-6471-1; AEI/FEDER, UE), Fundación MAPFRE Guanarteme (OA21/131), and Cabildo Insular de Tenerife (CGIEU0000219140 and “Apuestas científicas del ITER para colaborar en la lucha contra la COVID-19”). The CoV-Contact Cohort was funded by the French Ministry of Health and the European Commission (RECOVER project). Our studies are also funded by the Ministry of Health of the Czech Republic Conceptual Development of Research Organization (FNBr, 65269705) and ANID COVID0999 funding in Chile. G. Novelli and A. Novelli are supported by Regione Lazio (Research Group Projects 2020) No. A0375-2020-36663, GecoBiomark. A.M.P., M.L.D., and J.P.-T. are supported by the Inmungen-CoV2 project of CSIC. This work was supported in part by the Intramural Research Program of the NIAID, NIH. The research work of A.M..P, M.L.D., and J.P.-T. was funded by the European Commission –NextGenerationEU (Regulation EU 2020/2094), through CSIC’s Global Health Platform (PTI Salud Global). I.M. is a senior clinical investigator at FWO Vlaanderen supported by a VIB GC PID grant, by FWO grants G0B5120N (DADA2) and G0E8420N, and by the Jeffrey Modell Foundation. I.M. holds an ERC-StG MORE2ADA2 grant and is also supported by ERN-RITA. A.Y. is supported by fellowships from the European Academy of Dermatology and Venereology and the Swiss National Science Foundation and by an Early Career Award from the Thrasher Research Fund. Y.-H.C. is supported by an A*STAR International Fellowship (AIF). M.O. was supported by the David Rockefeller Graduate Program, the New York Hideyo Noguchi Memorial Society (HNMS), the Funai Foundation for Information Technology (FFIT), the Honjo International Scholarship Foundation (HISF), and the National Cancer Institute (NCI) F99 Award (F99CA274708). A.A.A. was supported by Ministerio de Ciencia Tecnología e Innovación MINCIENCIAS, Colombia (111584467551/CT 415-2020). D.L. is supported by a fellowship from the FRM for medical residents and fellows. E.H. received funding from the Bank of Montreal Chair of Pediatric Immunology, Foundation of CHU Sainte-Justine, CIHR grants PCC-466901 and MM1-181123, and a Canadian Pediatric Society IMPACT study. Q.P.-H. received funding from the European Union’s Horizon 2020 research and innovation program (ATAC, 101003650), the Swedish Research Council, and the Knut and Alice Wallenberg Foundation. Work in the Laboratory of Virology and Infectious Disease was supported by NIH grants P01AI138398-S1, 2U19AI111825, R01AI091707-10S1, and R01AI161444; a George Mason University Fast Grant; the G. Harold and Leila Y. Mathers Charitable Foundation; the Meyer Foundation; and the Bawd Foundation. R.P.L. is on the board of directors of both Roche and the Roche subsidiary Genentech. J.L.P. was supported by a Francois Wallace Monahan Postdoctoral Fellowship at the Rockefeller University and by a European Molecular Biology Organization Long-Term Fellowship (ALTF 380-2018).
Published: 2023

11. Correction to: Comparison of multiple transcriptomes exposes unified and divergent features of quiescent and activated skeletal muscle stem cells

Author: Pietrosemoli, Natalia, Mella, Sébastien, Yennek, Siham, Baghdadi, Meryem B., Sakai, Hiroshi, Sambasivan, Ramkumar, Pala, Francesca, Di Girolamo, Daniela, and Tajbakhsh, Shahragim
Published: 2018
Full Text: View/download PDF

12. Comparison of multiple transcriptomes exposes unified and divergent features of quiescent and activated skeletal muscle stem cells

Author: Pietrosemoli, Natalia, Mella, Sébastien, Yennek, Siham, Baghdadi, Meryem B., Sakai, Hiroshi, Sambasivan, Ramkumar, Pala, Francesca, Di Girolamo, Daniela, and Tajbakhsh, Shahragim
Published: 2017
Full Text: View/download PDF

13. Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19

Author: Sacco, K, Castagnoli, R, Vakkilainen, S, Liu, C, Delmonte, O, Oguz, C, Kaplan, I, Alehashemi, S, Burbelo, P, Bhuyan, F, de Jesus, A, Dobbs, K, Rosen, L, Cheng, A, Shaw, E, Vakkilainen, M, Pala, F, Lack, J, Zhang, Y, Fink, D, Oikonomou, V, Snow, A, Dalgard, C, Chen, J, Sellers, B, Montealegre Sanchez, G, Barron, K, Rey-Jurado, E, Vial, C, Poli, M, Licari, A, Montagna, D, Marseglia, G, Licciardi, F, Ramenghi, U, Discepolo, V, Lo Vecchio, A, Guarino, A, Eisenstein, E, Imberti, L, Sottini, A, Biondi, A, Mató, S, Gerstbacher, D, Truong, M, Stack, M, Magliocco, M, Bosticardo, M, Kawai, T, Danielson, J, Hulett, T, Askenazi, M, Hu, S, Cohen, J, Su, H, Kuhns, D, Lionakis, M, Snyder, T, Holland, S, Goldbach-Mansky, R, Tsang, J, Notarangelo, L, Sacco, Keith, Castagnoli, Riccardo, Vakkilainen, Svetlana, Liu, Can, Delmonte, Ottavia M, Oguz, Cihan, Kaplan, Ian M, Alehashemi, Sara, Burbelo, Peter D, Bhuyan, Farzana, de Jesus, Adriana A, Dobbs, Kerry, Rosen, Lindsey B, Cheng, Aristine, Shaw, Elana, Vakkilainen, Mikko S, Pala, Francesca, Lack, Justin, Zhang, Yu, Fink, Danielle L, Oikonomou, Vasileios, Snow, Andrew L, Dalgard, Clifton L, Chen, Jinguo, Sellers, Brian A, Montealegre Sanchez, Gina A, Barron, Karyl, Rey-Jurado, Emma, Vial, Cecilia, Poli, Maria Cecilia, Licari, Amelia, Montagna, Daniela, Marseglia, Gian Luigi, Licciardi, Francesco, Ramenghi, Ugo, Discepolo, Valentina, Lo Vecchio, Andrea, Guarino, Alfredo, Eisenstein, Eli M, Imberti, Luisa, Sottini, Alessandra, Biondi, Andrea, Mató, Sayonara, Gerstbacher, Dana, Truong, Meng, Stack, Michael A, Magliocco, Mary, Bosticardo, Marita, Kawai, Tomoki, Danielson, Jeffrey J, Hulett, Tyler, Askenazi, Manor, Hu, Shaohui, Cohen, Jeffrey I, Su, Helen C, Kuhns, Douglas B, Lionakis, Michail S, Snyder, Thomas M, Holland, Steven M, Goldbach-Mansky, Raphaela, Tsang, John S, Notarangelo, Luigi D, Sacco, K, Castagnoli, R, Vakkilainen, S, Liu, C, Delmonte, O, Oguz, C, Kaplan, I, Alehashemi, S, Burbelo, P, Bhuyan, F, de Jesus, A, Dobbs, K, Rosen, L, Cheng, A, Shaw, E, Vakkilainen, M, Pala, F, Lack, J, Zhang, Y, Fink, D, Oikonomou, V, Snow, A, Dalgard, C, Chen, J, Sellers, B, Montealegre Sanchez, G, Barron, K, Rey-Jurado, E, Vial, C, Poli, M, Licari, A, Montagna, D, Marseglia, G, Licciardi, F, Ramenghi, U, Discepolo, V, Lo Vecchio, A, Guarino, A, Eisenstein, E, Imberti, L, Sottini, A, Biondi, A, Mató, S, Gerstbacher, D, Truong, M, Stack, M, Magliocco, M, Bosticardo, M, Kawai, T, Danielson, J, Hulett, T, Askenazi, M, Hu, S, Cohen, J, Su, H, Kuhns, D, Lionakis, M, Snyder, T, Holland, S, Goldbach-Mansky, R, Tsang, J, Notarangelo, L, Sacco, Keith, Castagnoli, Riccardo, Vakkilainen, Svetlana, Liu, Can, Delmonte, Ottavia M, Oguz, Cihan, Kaplan, Ian M, Alehashemi, Sara, Burbelo, Peter D, Bhuyan, Farzana, de Jesus, Adriana A, Dobbs, Kerry, Rosen, Lindsey B, Cheng, Aristine, Shaw, Elana, Vakkilainen, Mikko S, Pala, Francesca, Lack, Justin, Zhang, Yu, Fink, Danielle L, Oikonomou, Vasileios, Snow, Andrew L, Dalgard, Clifton L, Chen, Jinguo, Sellers, Brian A, Montealegre Sanchez, Gina A, Barron, Karyl, Rey-Jurado, Emma, Vial, Cecilia, Poli, Maria Cecilia, Licari, Amelia, Montagna, Daniela, Marseglia, Gian Luigi, Licciardi, Francesco, Ramenghi, Ugo, Discepolo, Valentina, Lo Vecchio, Andrea, Guarino, Alfredo, Eisenstein, Eli M, Imberti, Luisa, Sottini, Alessandra, Biondi, Andrea, Mató, Sayonara, Gerstbacher, Dana, Truong, Meng, Stack, Michael A, Magliocco, Mary, Bosticardo, Marita, Kawai, Tomoki, Danielson, Jeffrey J, Hulett, Tyler, Askenazi, Manor, Hu, Shaohui, Cohen, Jeffrey I, Su, Helen C, Kuhns, Douglas B, Lionakis, Michail S, Snyder, Thomas M, Holland, Steven M, Goldbach-Mansky, Raphaela, Tsang, John S, and Notarangelo, Luigi D
Abstract: Transcriptomic, proteomic and immune repertoire profiling reveals distinct peripheral features of MIS-C and pediatric COVID-19, including elevated soluble spike protein levels, more pronounced type II IFN-dependent gene expression and a higher B cell mutation rate in patients with MIS-C.Pediatric Coronavirus Disease 2019 (pCOVID-19) is rarely severe; however, a minority of children infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) might develop multisystem inflammatory syndrome in children (MIS-C), with substantial morbidity. In this longitudinal multi-institutional study, we applied multi-omics (analysis of soluble biomarkers, proteomics, single-cell gene expression and immune repertoire analysis) to profile children with COVID-19 (n = 110) and MIS-C (n = 76), along with pediatric healthy controls (pHCs; n = 76). pCOVID-19 was characterized by robust type I interferon (IFN) responses, whereas prominent type II IFN-dependent and NF-kappa B-dependent signatures, matrisome activation and increased levels of circulating spike protein were detected in MIS-C, with no correlation with SARS-CoV-2 PCR status around the time of admission. Transient expansion of TRBV11-2 T cell clonotypes in MIS-C was associated with signatures of inflammation and T cell activation. The association of MIS-C with the combination of HLA A*02, B*35 and C*04 alleles suggests genetic susceptibility. MIS-C B cells showed higher mutation load than pCOVID-19 and pHC. These results identify distinct immunopathological signatures in pCOVID-19 and MIS-C that might help better define the pathophysiology of these disorders and guide therapy.
Published: 2022

14. Lentiviral-mediated gene therapy restores b cell tolerance in Wiskott-Aldrich syndrome patients

Author: Pala, Francesca, Morbach, Henner, Castiello, Maria Carmina, Schickel, Jean-Nicolas, Scaramuzza, Samantha, Chamberlain, Nicolas, Cassani, Barbara, Glauzy, Salome, Romberg, Neil, Candotti, Fabio, Aiuti, Alessandro, Bosticardo, Marita, Villa, Anna, and Meffre, Eric
Subjects: Wiskott-Aldrich syndrome -- Care and treatment -- Genetic aspects, Gene therapy -- Methods -- Patient outcomes, B cells -- Health aspects -- Genetic aspects, Lentivirus -- Usage -- Health aspects, Health care industry
Abstract: Wiskott-Aldrich syndrome (WAS) is an X-linked immunodeficiency characterized by microthrombocytopenia, eczema, and high susceptibility to developing tumors and autoimmunity. Recent evidence suggests that B cells may be key players in the pathogenesis of autoimmunity in WAS. Here, we assessed whether WAS protein deficiency (WASp deficiency) affects the establishment of B cell tolerance by testing the reactivity of recombinant antibodies isolated from single B cells from 4 WAS patients before and after gene therapy (GT). We found that pre-GT WASp-deficient B cells were hyperreactive to B cell receptor stimulation (BCR stimulation). This hyperreactivity correlated with decreased frequency of autoreactive new emigrant/transitional B cells exiting the BM, indicating that the BCR signaling threshold plays a major role in the regulation of central B cell tolerance. In contrast, mature naive B cells from WAS patients were enriched in self-reactive clones, revealing that peripheral B cell tolerance checkpoint dysfunction is associated with impaired suppressive function of WAS regulatory T cells. The introduction of functional WASp by GT corrected the alterations of both central and peripheral B cell tolerance checkpoints. We conclude that WASp plays an important role in the establishment and maintenance of B cell tolerance in humans and that restoration of WASp by GT is able to restore B cell tolerance in WAS patients., Introduction Wiskott-Aldrich syndrome (WAS) is a rare X-linked disease in which immunodeficiency associates with thrombocytopenia and a high risk to develop tumors and autoimmune manifestations (1). Mutations in the WAS [...]
Published: 2015
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15. Multiomics approach identifies novel age-, time- and treatment-related immunopathological signatures in MIS-C and pediatric COVID-19

Author: Sacco, Keith, Castagnoli, Riccardo, Vakkilainen, Svetlana, Liu, Can, Delmonte, Ottavia M., Oguz, Cihan, Kaplan, Ian M., Alehashemi, Sara, Burbelo, Peter D., Bhuyan, Farzana, A. de Jesus, Adriana, Dobbs, Kerry, Rosen, Lindsey B., Cheng, Aristine, Shaw, Elana, Vakkilainen, Mikko S., Pala, Francesca, Lack, Justin, Zhang, Yu, Fink, Danielle L., Oikonomou, Vasileios, Snow, Andrew L., Dalgard, Clifton L., Chen, Jinguo, Sellers, Brian A., Montealegre Sanchez, Gina A., Barron, Karyl, Rey, Emma, Vial, Cecilia, Poli, Maria Cecilia, Licari, Amelia, Montagna, Daniela, Marseglia, Gian Luigi, Licciardi, Francesco, Ramenghi, Ugo, Discepolo, Valentina, Vecchio, Andrea Lo, Guarino, Alfredo, Eisenstein, Eli M., Imberti, Luisa, Sottini, Alessandra, Biondi, Andrea, Mató, Sayonara, Gertsbacher, Dana, Truong, Meng, Stack, Michael A., Magliocco, Mary, Bosticardo, Marita, Kawai, Tomoki, Danielson, Jeffrey J., Hulett, Tyler, Askenazi ,Manor, NIH, NIAID Immune Response to COVID Group, Chile, Chile MIS-C Group, Pavia, Pavia Pediatric COVID-19 Group, Cohen, Jeffrey I., Su, Helen C., Kuhns, Douglas B., Lionakis, Michail S., Snyder, Thomas M., Holland, Steven M., Goldbach-Mansky, Raphaela, Tsang, John S., and Notarangelo, Luigi D.
Subjects: Proteomics, HLA, TCR repertoire, CITE-seq, Autoantibody, SARS-CoV-2, COVID-19, MIS-C, BCR repertoire, Multiomics, Biomarkers
Abstract: This repository contains the CITE-Seq data set used in the manuscript titled "Multiomics approach identifies novel age-, time- and treatment-related immunopathological signatures in MIS-C and pediatric COVID-19". This data set is composed of the expression levels of 188 surface proteins, RNA expression, and BCR/TCR repertoire in single peripheral blood mononuclear cells from 7 multisystem inflammatory syndrome in children (MIS-C) and 8 pediatric COVID-19 patients, in addition to 7 age- and sex-matched pediatric healthy controls. 1. misc_SeuratObj_submission.rds -- Seurat object contains all count data used for the manuscript - raw sequencing data are not provided due to privacy issue - metadata is included in the Seurat object 2. MIS-C_cohort_citeseq.xlsx -- sample meta data 3. immcant_bcr_ighl_filtered.csv -- single cell BCR data 4. TCR_filtered_contig_annotations.csv -- single cell TCR data 5. README.txt -- Descriptions of the individual data files, This work was supported by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health (grant ZIA AI001270-01 to LDN and ZIA AI001265 to HCS), by Regione Lombardia, Italy (project "Risposta immune in pazienti con COVID-19 e co-morbidità" to RC, AL, DM, GLM for Pavia, Italy and LI and AS for Brescia, Italy), by ANID COVID 0999, Fondecyt nº 11181222 (to MCP, Chile). In addition, this project has been funded in part with federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. 75N91019D00024 (to DBK).
Published: 2021
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16. SASH3variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation

Author: Delmonte, Ottavia M., primary, Bergerson, Jenna R. E., additional, Kawai, Tomoki, additional, Kuehn, Hye Sun, additional, McDermott, David H., additional, Cortese, Irene, additional, Zimmermann, Michael T., additional, Dobbs, A. Kerry, additional, Bosticardo, Marita, additional, Fink, Danielle, additional, Majumdar, Shamik, additional, Palterer, Boaz, additional, Pala, Francesca, additional, Dsouza, Nikita R., additional, Pouzolles, Marie, additional, Taylor, Naomi, additional, Calvo, Katherine R., additional, Daley, Stephen R., additional, Velez, Daniel, additional, Agharahimi, Anahita, additional, Myint-Hpu, Katherine, additional, Dropulic, Lesia K., additional, Lyons, Jonathan J., additional, Holland, Steven M., additional, Freeman, Alexandra F., additional, Ghosh, Rajarshi, additional, Similuk, Morgan B., additional, Niemela, Julie E., additional, Stoddard, Jennifer, additional, Kuhns, Douglas B., additional, Urrutia, Raul, additional, Rosenzweig, Sergio D., additional, Walkiewicz, Magdalena A., additional, Murphy, Philip M., additional, and Notarangelo, Luigi D., additional
Published: 2021
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17. Gut Microbiota–Host Interactions in Inborn Errors of Immunity

Author: Castagnoli, Riccardo, primary, Pala, Francesca, additional, Bosticardo, Marita, additional, Licari, Amelia, additional, Delmonte, Ottavia M., additional, Villa, Anna, additional, Marseglia, Gian Luigi, additional, and Notarangelo, Luigi Daniele, additional
Published: 2021
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18. An Integrated Epigenomic and Transcriptomic Map of Mouse and Human αβ T Cell Development

Author: Chopp, Laura B., primary, Gopalan, Vishaka, additional, Ciucci, Thomas, additional, Ruchinskas, Allison, additional, Rae, Zachary, additional, Lagarde, Manon, additional, Gao, Yayi, additional, Li, Caiyi, additional, Bosticardo, Marita, additional, Pala, Francesca, additional, Livak, Ferenc, additional, Kelly, Michael C., additional, Hannenhalli, Sridhar, additional, and Bosselut, Rémy, additional
Published: 2020
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19. Neuropsychology in the Times of COVID-19. The Role of the Psychologist in Taking Charge of Patients With Alterations of Cognitive Functions

Author: Sozzi, Matteo, primary, Algeri, Lorella, additional, Corsano, Matteo, additional, Crivelli, Davide, additional, Daga, Maria Angela, additional, Fumagalli, Francesca, additional, Gemignani, Paola, additional, Granieri, Maria Concetta, additional, Inzaghi, Maria Grazia, additional, Pala, Francesca, additional, Turati, Simone, additional, and Balconi, Michela, additional
Published: 2020
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20. Phosphate Transporter Profiles in Murine and Human Thymi Identify Thymocytes at Distinct Stages of Differentiation

Author: Machado, Alice, primary, Pouzolles, Marie, additional, Gailhac, Sarah, additional, Fritz, Vanessa, additional, Craveiro, Marco, additional, López-Sánchez, Uriel, additional, Kondo, Taisuke, additional, Pala, Francesca, additional, Bosticardo, Marita, additional, Notarangelo, Luigi D., additional, Petit, Vincent, additional, Taylor, Naomi, additional, and Zimmermann, Valérie S., additional
Published: 2020
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21. Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices

Author: Daley, Stephen R., Koay, Hui Fern, Dobbs, Kerry, Bosticardo, Marita, Wirasinha, Rushika C., Pala, Francesca, Castagnoli, Riccardo, Rowe, Jared H., Ott de Bruin, Lisa M., Keles, Sevgi, Lee, Yu Nee, Somech, Raz, Holland, Steven M., Delmonte, Ottavia M., Draper, Debbie, Maxwell, Sandra, Niemela, Julie, Stoddard, Jennifer, Rosenzweig, Sergio D., Poliani, Pietro Luigi, Capo, Valentina, Villa, Anna, Godfrey, Dale I., Notarangelo, Luigi D., Daley, Stephen R., Koay, Hui Fern, Dobbs, Kerry, Bosticardo, Marita, Wirasinha, Rushika C., Pala, Francesca, Castagnoli, Riccardo, Rowe, Jared H., Ott de Bruin, Lisa M., Keles, Sevgi, Lee, Yu Nee, Somech, Raz, Holland, Steven M., Delmonte, Ottavia M., Draper, Debbie, Maxwell, Sandra, Niemela, Julie, Stoddard, Jennifer, Rosenzweig, Sergio D., Poliani, Pietro Luigi, Capo, Valentina, Villa, Anna, Godfrey, Dale I., and Notarangelo, Luigi D.
Published: 2019

22. From Investigation to Intervention. Biofeedback and Neurofeedback Biomarkers in Sport

Author: Carlstedt, RA, Balconi, M, Balconi, Michela, Pala, Francesca, Crivelli, Davide, Milone, Valeria, Michela Balconi (ORCID:0000-0002-8634-1951), Davide Crivelli (ORCID:0000-0003-2221-2349), Carlstedt, RA, Balconi, M, Balconi, Michela, Pala, Francesca, Crivelli, Davide, Milone, Valeria, Michela Balconi (ORCID:0000-0002-8634-1951), and Davide Crivelli (ORCID:0000-0003-2221-2349)
Abstract: Sport neuroscience, lying at the intersection of applied neuroscience and sport psychology, includes, among its hot topics, the cognitive and affective processes and mechanisms that accompany the athletic performance. This chapter focuses on present applications of psychophysiological and electrophysiological techniques, such as biofeedback and neurofeedback, to support or empower performance in sports. In particular, you will find an introduction to the mechanisms of action of most relevant techniques in the field, neural-bodily-behavioral modulations that are targeted by different intervention opportunities, and technical application notes. We will discuss the value of self-awareness and of the ability to properly recognize bodily feedbacks, especially when athletes have to face competition, and the relevance of robust self-regulation skills to achieve maximum performance. Further, we will report a critical comparison between the efficacy and strong/weak points of bio/neurofeedback techniques and more traditional mental training techniques within the field of sport science. Finally, we will present and discuss different protocols applied to specific sports, such as baseball, golf, soccer, and gymnastics.
Published: 2019

23. Additional file 4: of Correction to: Comparison of multiple transcriptomes exposes unified and divergent features of quiescent and activated skeletal muscle stem cells

Author: Pietrosemoli, Natalia, Mella, Sébastien, Yennek, Siham, Baghdadi, Meryem, Sakai, Hiroshi, Ramkumar Sambasivan, Pala, Francesca, Girolamo, Daniela Di, and Shahragim Tajbakhsh
Abstract: Figure S4. Effect of PFA treatment at different time points in the experimental procedure. Top: Schematic showing the simplified experimental procedure of cell fixation before or after muscle dissociation/cell sorting. “0 h” refers to cells fixed prior to muscle dissociation and cell sorting, while “5 h” refers to cells that undergo muscle dissociation and cell sorting prior any treatment (+/− PFA). Bottom: Barplots showing the effect of PFA treatment after muscle dissociation/cell sorting. Bars represent the fold change (in Log10) of expression between freshly isolated QSCs (0 h + PFA) and QSCs after muscle dissociation/cell sorting with or without PFA treatment, 5 h + PFA and 5 h –PFA, respectively. (PDF 445 kb)
Published: 2018
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24. A distinct cardiopharyngeal mesoderm genetic hierarchy establishes antero-posterior patterning of esophagus striated muscle

Author: Comai, Glenda, primary, Heude, Eglantine, additional, Mella, Sebastian, additional, Paisant, Sylvain, additional, Pala, Francesca, additional, Gallardo, Mirialys, additional, Langa, Francina, additional, Kardon, Gabrielle, additional, Gopalakrishnan, Swetha, additional, and Tajbakhsh, Shahragim, additional
Published: 2019
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25. SASH3 variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation

Author: Delmonte, Ottavia M., Bergerson, Jenna R. E., Kawai, Tomoki, Kuehn, Hye Sun, McDermott, David H., Cortese, Irene, Zimmermann, Michael T., Dobbs, A. Kerry, Bosticardo, Marita, Fink, Danielle, Majumdar, Shamik, Palterer, Boaz, Pala, Francesca, Dsouza, Nikita R., Pouzolles, Marie, Taylor, Naomi, Calvo, Katherine R., Daley, Stephen R., Velez, Daniel, Agharahimi, Anahita, Myint-Hpu, Katherine, Dropulic, Lesia K., Lyons, Jonathan J., Holland, Steven M., Freeman, Alexandra F., Ghosh, Rajarshi, Similuk, Morgan B., Niemela, Julie E., Stoddard, Jennifer, Kuhns, Douglas B., Urrutia, Raul, Rosenzweig, Sergio D., Walkiewicz, Magdalena A., Murphy, Philip M., and Notarangelo, Luigi D.
Abstract: Sterile alpha motif (SAM) and Src homology-3 (SH3) domain-containing 3 (SASH3), also called SH3-containing lymphocyte protein (SLY1), is a putative adaptor protein that is postulated to play an important role in the organization of signaling complexes and propagation of signal transduction cascades in lymphocytes. The SASH3 gene is located on the X-chromosome. Here, we identified 3 novel SASH3 deleterious variants in 4 unrelated male patients with a history of combined immunodeficiency and immune dysregulation that manifested as recurrent sinopulmonary, cutaneous, and mucosal infections and refractory autoimmune cytopenias. Patients exhibited CD4+ T-cell lymphopenia, decreased T-cell proliferation, cell cycle progression, and increased T-cell apoptosis in response to mitogens. In vitro T-cell differentiation of CD34+ cells and molecular signatures of rearrangements at the T-cell receptor α (TRA) locus were indicative of impaired thymocyte survival. These patients also manifested neutropenia and B-cell and natural killer (NK)-cell lymphopenia. Lentivirus-mediated transfer of the SASH3 complementary DNA–corrected protein expression, in vitro proliferation, and signaling in SASH3-deficient Jurkat and patient-derived T cells. These findings define a new type of X-linked combined immunodeficiency in humans that recapitulates many of the abnormalities reported in mice with Sly1–/– and Sly1Δ/Δ mutations, highlighting an important role of SASH3 in human lymphocyte function and survival.
Published: 2021
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26. Lo standard EAD3 per la codifica dei dati archivistici: qualche novità e molte conferme

Author: Pala, Francesca
Subjects: EAD, Archival science, Archival description, XML encoding, Archivistica, Descrizione archivistica, Codifica XML, M-STO/08
Abstract: Alla luce delle accresciute possibilità di offrire una descrizione archivistica più ricca e articolata e dell’ esperienza maturata negli anni, nell’estate 2015 la Society of American Archivists ha adottato come standard una nuova versione dell’Encoded Archival Description: EAD3. Il contributo, dopo aver ricostruito il processo decisionale e le modalità di revisione che hanno interessato la versione EAD 2002, analizza la nuova versione dello standard nei suoi aspetti maggiormente innovativi. Completa il contributo un’appendice relativa all’impiego di EAD3 all’inventario dell’archivio dell' Ex Ospedale psichiatrico Santa Maria della Pietà di Roma (1979-1999). In consideration of the increased possibilities to provide a richer and a more well-structured archival description and the experience matured in years, in Summer 2015 the Society of American Archivists has adopted the new version of Encoded Archival Description as a standard: EAD3. After retracing the decision process and the review related to the EAD 2002 version, the article examines the new version of the standard in its main original aspects. An appendix on the use of EAD3 in the inventory of Ex Ospedale psichiatrico Santa Maria della Pietà di Roma (1979-1999) archive, completes the essay.
Published: 2017

27. Additional file 4: Figure S4. of Comparison of multiple transcriptomes exposes unified and divergent features of quiescent and activated skeletal muscle stem cells

Author: Pietrosemoli, Natalia, SĂŠbastien Mella, Yennek, Siham, Baghdadi, Meryem, Sakai, Hiroshi, Ramkumar Sambasivan, Pala, Francesca, Girolamo, Daniela Di, and Shahragim Tajbakhsh
Abstract: Effect of PFA treatment at different time points in the experimental procedure. Control experiments showing no effect of PFA on gene expression measurements. (PDF 445Â kb)
Published: 2017
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28. Additional file 2: Figure S2. of Comparison of multiple transcriptomes exposes unified and divergent features of quiescent and activated skeletal muscle stem cells

Author: Pietrosemoli, Natalia, Mella, Sébastien, Yennek, Siham, Baghdadi, Meryem, Sakai, Hiroshi, Ramkumar Sambasivan, Pala, Francesca, Girolamo, Daniela Di, and Shahragim Tajbakhsh
Abstract: Violin plots of the logFC distribution for each individual dataset. Density plots of the logFC (|logFC| 1 in blue. (PDF 156 kb)
Published: 2017
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29. Additional file 1: Figure S1. of Comparison of multiple transcriptomes exposes unified and divergent features of quiescent and activated skeletal muscle stem cells

Author: Pietrosemoli, Natalia, SĂŠbastien Mella, Yennek, Siham, Baghdadi, Meryem, Sakai, Hiroshi, Ramkumar Sambasivan, Pala, Francesca, Girolamo, Daniela Di, and Shahragim Tajbakhsh
Abstract: Quality controls and data sample distribution for Quiescent [high/low]/D3Activated [high/low] dataset. a Relative log expression (RLE) and b normalized unscaled standard errors (NUSE) plots for the D3P7 dataset show that as expected for good quality data, RLE median values are centered around 0.0, while the median standard error should be 1 for most genes in the NUSE plots. A sample distribution is distributed according to status (D3H: activated, high; D3L: activated, low; QH: quiescent, high; QL: quiescent, low) using principal component analysis (c) and hierarchical clustering of the Euclidean distance (d). (PDF 103Â kb)
Published: 2017
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30. Additional file 3: Figure S3. of Comparison of multiple transcriptomes exposes unified and divergent features of quiescent and activated skeletal muscle stem cells

Author: Pietrosemoli, Natalia, SĂŠbastien Mella, Yennek, Siham, Baghdadi, Meryem, Sakai, Hiroshi, Ramkumar Sambasivan, Pala, Francesca, Girolamo, Daniela Di, and Shahragim Tajbakhsh
Abstract: Effect of adding NICD[E17.5/E14.5] dataset on the best combinations of datasets. Impact of including or excluding NICD dataset on overall analysis. (PDF 395Â kb)
Published: 2017
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31. Additional file 6: Table S2. of Comparison of multiple transcriptomes exposes unified and divergent features of quiescent and activated skeletal muscle stem cells

Author: Pietrosemoli, Natalia, Mella, Sébastien, Yennek, Siham, Baghdadi, Meryem, Sakai, Hiroshi, Ramkumar Sambasivan, Pala, Francesca, Girolamo, Daniela Di, and Shahragim Tajbakhsh
Subjects: fungi
Abstract: Primers used for validation of gene expression by RT-qPCR. Primers used for RT-qPCR studies in Fig. 7. (PDF 14 kb)
Published: 2017
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32. Distinct metabolic states govern skeletal muscle stem cell fates during prenatal and postnatal myogenesis

Author: Pala, Francesca, primary, Di Girolamo, Daniela, additional, Mella, Sébastien, additional, Yennek, Siham, additional, Chatre, Laurent, additional, Ricchetti, Miria, additional, and Tajbakhsh, Shahragim, additional
Published: 2018
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33. In Vivo Chronic Stimulation Unveils Autoreactive Potential of Wiskott–Aldrich Syndrome Protein-Deficient B Cells

Author: Castiello, Maria Carmina, primary, Pala, Francesca, additional, Sereni, Lucia, additional, Draghici, Elena, additional, Inverso, Donato, additional, Sauer, Aisha V., additional, Schena, Francesca, additional, Fontana, Elena, additional, Radaelli, Enrico, additional, Uva, Paolo, additional, Cervantes-Luevano, Karla E., additional, Benvenuti, Federica, additional, Poliani, Pietro L., additional, Iannacone, Matteo, additional, Traggiai, Elisabetta, additional, Villa, Anna, additional, and Bosticardo, Marita, additional
Published: 2017
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34. Neurophysiology of management communication: a pilot hyperscanning study

Author: Balconi, Michela, Pala, Francesca, Vanutelli, Maria Elide, Venturella, Irene, Salati, Emanuela, Ripamonti, Silvio Carlo, Natili, Franco, Balconi, Michela (ORCID:0000-0002-8634-1951), Vanutelli, Maria Elide (ORCID:0000-0001-9349-1707), Venturella, Irene (ORCID:0000-0001-8214-6094), Ripamonti, Silvio Carlo (ORCID:0000-0001-6228-4641), Balconi, Michela, Pala, Francesca, Vanutelli, Maria Elide, Venturella, Irene, Salati, Emanuela, Ripamonti, Silvio Carlo, Natili, Franco, Balconi, Michela (ORCID:0000-0002-8634-1951), Vanutelli, Maria Elide (ORCID:0000-0001-9349-1707), Venturella, Irene (ORCID:0000-0001-8214-6094), and Ripamonti, Silvio Carlo (ORCID:0000-0001-6228-4641)
Abstract: Communication is an important factor in understanding intangible organisational assets value, and, together with the construction of robust relationships, is linked to higher performance levels and generating service. Thus, it is important for managers to be able to improve communication within his group. However, conventional modalities focused on management’s perspective rather than on the collaborators. Nonetheless, collaborators’ primary needs should include complete information and a good communication with his boss, within a circular and constructive perspective. Also, objective psychophysiological data in support of such organizational dynamics are still missing. Thus, the aim of the present pilot study was to explore an organizational interaction between a manager and a collaborator about job performance in a big service’s company. The sample consisted in 2 paired manager-collaborator couples. Managers were required to use two different communication styles and were provided a script to play: one was required to adopt a standard approach according to the company’s guidelines, while the other adopted a more cooperative approach. Meanwhile, cortical (Electroencephalographic, EEG) and peripheral (Heart Rate: HR; Skin Conductance Level and Response: SCL, SCR) activities were recorded. A first step of analyses permitted to identify 5 main standardized topics during the interviews: collaborator’s description of the team work; manager’s description of the team work; company’s practices; collaborator’s personal change; manager’s personal change. A second step consisted in the identification of neuro- and psychophysiological markers. Topic, job position (manager vs. collaborator) and manager’s style (standard vs. constructive) were considered to interpret data. A first important and general result showed that the interview was more arousing for the collaborator than the manager, with increased SCL irrespective of topic and style. A second result was related to the pe
Published: 2016

35. Cervelli in dialogo. Leadership e neuroscienze. La neurometrica applicata alla valutazione delle prestazioni

Author: Balconi, Michela, Venturella, Irene, Pala, Francesca, Salati, M. E, Ripamonti, Silvio Carlo, Natili, Franco, Vanutelli, Maria Elide, Balconi, Michela (ORCID:0000-0002-8634-1951), Venturella, Irene (ORCID:0000-0001-8214-6094), Ripamonti, Silvio Carlo (ORCID:0000-0001-6228-4641), Vanutelli, Maria Elide (ORCID:0000-0001-9349-1707), Balconi, Michela, Venturella, Irene, Pala, Francesca, Salati, M. E, Ripamonti, Silvio Carlo, Natili, Franco, Vanutelli, Maria Elide, Balconi, Michela (ORCID:0000-0002-8634-1951), Venturella, Irene (ORCID:0000-0001-8214-6094), Ripamonti, Silvio Carlo (ORCID:0000-0001-6228-4641), and Vanutelli, Maria Elide (ORCID:0000-0001-9349-1707)
Abstract: N/A
Published: 2016

36. Effetto della neuromodulazione corticale (tDCS) nell'healthy ageing. Correlati EEG e comportamentali

Author: Balconi, Michela, Pala, Francesca, Crivelli, Davide, Balconi, Michela (ORCID:0000-0002-8634-1951), Crivelli, Davide (ORCID:0000-0003-2221-2349), Balconi, Michela, Pala, Francesca, Crivelli, Davide, Balconi, Michela (ORCID:0000-0002-8634-1951), and Crivelli, Davide (ORCID:0000-0003-2221-2349)
Abstract: Nella cornice teorica dell’active and healthy ageing, l’invecchiamento fisiologico è visto come un processo dinamico che può offrire opportunità per il mantenimento e il potenziamento delle capacità cognitive e affettivo-sociali. In quest’ottica, gli interventi di empowerment mediante neuromodulazione si offrono come potenziali strumenti per il contenimento del fisiologico declino cognitivo e delle sue derive patologiche. Sulla base delle evidenze relative al coinvolgimento primario nel processo di invecchiamento delle strutture neurali prefrontali e delle funzioni esecutive da esse mediate, è stato predisposto un protocollo di potenziamento mediato da stimolazione cerebrale non-invasiva (tDCS). Il confronto integrato di misure di outcome psicometriche ed elettrofisiologiche (potenziali evento- relati, ERP) tra gruppo sperimentale e gruppo di controllo ha evidenziato profili di miglioramento a favore del primo, con un incremento dei punteggi ottenuti ai test sulle funzioni esecutive e delle risposte elettrofisiologiche associate a processi di orientamento attentivo (N200). Tali effetti sono stati parzialmente mantenuti anche alla rilevazione di follow-up, suggerendo interessanti implicazioni delle tecniche di neuromodulazione in percorsi preventivi o di intervento precoce.
Published: 2016

37. Facial feedback and autonomic responsiveness reflect impaired emotional processing in Parkinson's Disease

Author: Balconi, Michela, Pala, Francesca, Manenti, Rosa, Brambilla, Michela, Cobelli, Chiara, Rosini, Sandra, Benussi, Alberto, Padovani, Alessandro, Borroni, Barbara, Cotelli, Maria, Balconi, Michela (ORCID:0000-0002-8634-1951), Balconi, Michela, Pala, Francesca, Manenti, Rosa, Brambilla, Michela, Cobelli, Chiara, Rosini, Sandra, Benussi, Alberto, Padovani, Alessandro, Borroni, Barbara, Cotelli, Maria, and Balconi, Michela (ORCID:0000-0002-8634-1951)
Abstract: Emotional deficits are part of the non-motor features of Parkinson's disease but few attention has been paid to specific aspects such as subjective emotional experience and autonomic responses. This study aimed to investigate the mechanisms of emotional recognition in Parkinson's Disease (PD) using the following levels: explicit evaluation of emotions (Self-Assessment Manikin) and implicit reactivity (Skin Conductance Response; electromyographic measure of facial feedback of the zygomaticus and corrugator muscles). 20 PD Patients and 34 healthy controls were required to observe and evaluate affective pictures during physiological parameters recording. In PD, the appraisal process on both valence and arousal features of emotional cues were preserved, but we found significant impairment in autonomic responses. Specifically, in comparison to healthy controls, PD patients revealed lower Skin Conductance Response values to negative and high arousing emotional stimuli. In addition, the electromyographic measures showed defective responses exclusively limited to negative and high arousing emotional category: PD did not show increasing of corrugator activity in response to negative emotions as happened in heathy controls. PD subjects inadequately respond to the emotional categories which were considered more salient: they had preserved appraisal process, but impaired automatic ability to distinguish between different emotional contexts.
Published: 2016

38. L’alterazione del processo emozionale nella Malattia di Parkinson: feedback facciale e risposta autonomica

Author: Pala, Francesca, Cotelli, Maria, Milone, Valeria, Balconi, Michela, Balconi, Michela (ORCID:0000-0002-8634-1951), Pala, Francesca, Cotelli, Maria, Milone, Valeria, Balconi, Michela, and Balconi, Michela (ORCID:0000-0002-8634-1951)
Abstract: La malattia di Parkinson (PD) presenta tipicamente un’alterazione nell’elaborazione e nel riconoscimento delle emozioni, ma non è ancora noto se perdano del tutto tale capacità o se la compromissione riguardi la percezione dell’emozione in sé, la regolazione fisiologica in risposta a stimoli emotivi o la decodifica delle emozioni altrui. Questo studio si propone di indagare i meccanismi di riconoscimento emotivo in tali pazienti, utilizzando alcune misure: la valutazione esplicita delle emozioni (Self-Assessment Manikin, SAM) e la reattività implicita (conduttanza cutanea, SCR; la risposta elettromiografica, EMG). Sono stati selezionati 20 pazienti sulla base di una valutazione neuropsicologica, abbinati per età e scolarità a 34 volontari sani. Ai pazienti era chiesto di osservare e valutare immagini emotivamente salienti, scelte dall’International Affective Picture System (IAPS) durante la rilevazione autonomica con biofeedback. L’integrazione di dati comportamentali e autonomici ha consentito un confronto diretto tra la valutazione soggettiva delle emozioni (valenza e arousal) e la reazione fisiologica corrispondente. In secondo luogo, la misura elettromiografica (zigomatico e corrugatore) ha evidenziato il ruolo che la modulazione centrale e periferica ha sulla risposta emotiva. I pazienti in risposta a stimoli negativi ad alto arousal hanno mostrato valori SCR inferiori rispetto ai soggetti sani confermati anche a livello elettromiografico: ad una ridotta mimica corrugatoria è collegata una risposta periferica ridotta. I pazienti PD sembrano quindi non rispondere adeguatamente alle categorie emozionali che vengono considerate salienti in condizioni normali; il fenomeno si osserva soprattutto per una categoria emotiva specifica, per la quale ad una capacità preservata di riconoscimento delle emozioni non corrisponde un’adeguata risposta autonomica.
Published: 2016

39. Effetti a breve e a lungo termine della neuromodulazione corticale (tDCS) e del training cognitivo nell’healthy ageing. Correlati EEG e comportamentali

Author: Balconi, Michela, Pala, Francesca, Crivelli, Davide, Balconi, Michela (ORCID:0000-0002-8634-1951), Crivelli, Davide (ORCID:0000-0003-2221-2349), Balconi, Michela, Pala, Francesca, Crivelli, Davide, Balconi, Michela (ORCID:0000-0002-8634-1951), and Crivelli, Davide (ORCID:0000-0003-2221-2349)
Abstract: Nella cornice teorica dell’active and healthy ageing, interventi di empowerment cognitivo ed elettrofisiologico si offrono come potenziali strumenti per il contenimento del fisiologico declino cognitivo e delle sue derive patologiche. Sulla base delle evidenze relative al coinvolgimento primario delle strutture prefrontali e delle funzioni esecutive da esse mediate nell’invecchiamento, sono stati progettati e indagati due protocolli di potenziamento mediato, rispettivamente, da training cognitivo computerizzato e da stimolazione cerebrale non-invasiva (tDCS). Al fine di valutarne anche gli effetti di neuroplasticità, l’indagine ha integrato classiche misure psicometriche con indicatori elettrofisiologici (potenziali evento-relati, ERP) di outcome. Un gruppo di controllo e due gruppi sperimentali composti da anziani senza deficit cognitivi acuti o cronici hanno preso parte allo studio e si sono quindi sottoposti a una valutazione elettrofisiologica e neuropsicologica standardizzata all’inizio e alla fine della fase di intervento, e a distanza di sei mesi. Entrambi i protocolli sperimentali prevedevano un percorso di otto settimane con tre sessioni la settimana. Le analisi, realizzate controllando l’effetto delle differenze individuali, hanno evidenziato profili di miglioramento differenti a favore dei gruppi sperimentali, con un incremento dei punteggi ottenuti ai test standardizzati sulle funzioni esecutive e delle risposte elettrofisiologiche associate a processi di orientamento attentivo (N200). Tali effetti sono stati parzialmente mantenuti anche alla rilevazione di follow-up, suggerendo interessanti implicazioni delle tecniche di neuromodulazione in percorsi preventivi o di intervento precoce. In aggiunta, le evidenze suggeriscono come l’integrazione di diverse misure (EEG e dati comportamentali) sia cruciale per un adeguato confronto tra protocolli differenti e per la valutazione di diversi profili di risposta a diversi trattamenti di potenziamento.
Published: 2016

40. Facial feedback and autonomic responsiveness reflect impaired emotional processing in Parkinson’s Disease

Author: Balconi, Michela, primary, Pala, Francesca, additional, Manenti, Rosa, additional, Brambilla, Michela, additional, Cobelli, Chiara, additional, Rosini, Sandra, additional, Benussi, Alberto, additional, Padovani, Alessandro, additional, Borroni, Barbara, additional, and Cotelli, Maria, additional
Published: 2016
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41. 280. Lentiviral-Mediated Gene Therapy Restores B Cell Homeostasis and Tolerance in Wiskott-Aldrich Syndrome Patients

Author: Castiello, Maria Carmina, primary, Pala, Francesca, additional, Morbach, Henner, additional, Schickel, Jean-Nicolas, additional, Scaramuzza, Samantha, additional, Chamberlain, Nicolas, additional, Romberg, Neil, additional, Ferrua, Francesca, additional, Candotti, Fabio, additional, Burg, Mirjam van der, additional, Naldini, Luigi, additional, Aiuti, Alessandro, additional, Meffre, Eric, additional, Bosticardo, Marita, additional, and Villa, Anna, additional
Published: 2016
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42. Cognitive and electrophysiological empowerment in healthy aging: clinical and EEG evidences

Author: CRIVELLI, DAVIDE, Canavesio, Ylenia, PALA, FRANCESCA, FINOCCHIARO, ROBERTA, Lecci, Giovanni, INZAGHI, MARIA GRAZIA, BALCONI, MICHELA, CRIVELLI, DAVIDE, Canavesio, Ylenia, PALA, FRANCESCA, FINOCCHIARO, ROBERTA, Lecci, Giovanni, INZAGHI, MARIA GRAZIA, and BALCONI, MICHELA
Published: 2015

43. Long-term empowerment effect of executive functions by multisession neuromodulation in healthy aging: follow-up evidences

Author: CRIVELLI, DAVIDE, Pala, Francesca, Grippa, Elisabetta, BALCONI, MICHELA, CRIVELLI, DAVIDE, Pala, Francesca, Grippa, Elisabetta, and BALCONI, MICHELA
Published: 2015

44. Potenziamento cognitivo dell’anziano sano mediante interventi di neuromodulazione (tDCS): evidenze cliniche ed elettrofisiologiche

Author: BALCONI, MICHELA, Pala, Francesca, FINOCCHIARO, ROBERTA, Grippa, Elisabetta, CRIVELLI, DAVIDE, BALCONI, MICHELA, Pala, Francesca, FINOCCHIARO, ROBERTA, Grippa, Elisabetta, and CRIVELLI, DAVIDE
Published: 2015

45. Empowering executive functions by neuromodulation (tDCS) in healthy elderly: psychometric and EEG evidences

Author: Crivelli, Davide, Canavesio, Ylenia, Pala, Francesca, Finocchiaro, Roberta, Cobelli, Chiara, Lecci, Giovanni, Balconi, Michela, Crivelli, Davide (ORCID:0000-0003-2221-2349), Balconi, Michela (ORCID:0000-0002-8634-1951), Crivelli, Davide, Canavesio, Ylenia, Pala, Francesca, Finocchiaro, Roberta, Cobelli, Chiara, Lecci, Giovanni, Balconi, Michela, Crivelli, Davide (ORCID:0000-0003-2221-2349), and Balconi, Michela (ORCID:0000-0002-8634-1951)
Abstract: Objective: While the contribution of non-invasive brain stimulation (NIBS) in preventing cognitive decline is looked with interest, NIBS empowerment of healthy elderly is understudied. The present research aims at investigating the eff ect of prefrontal transcranial direct current stimulation (tDCS) in empowering executive functions and electrophysiological attention responses in healthy aging. Methods: 22 participants have been assigned to the intervention or control group and underwent a complex assessment at T0 and at T1 – after three months. The anodal tDCS protocol lasted eight weeks (three sessions per week), with twice-weekly administration of tasks tapping on executive functions. A complete set of standardized cognitive tests and an electroencephalographic recording during a challenging computerized attention task have been integrated in the assessment protocol. Results: T0-T1 comparisons highlighted a signifi cant increase in post-intervention performances for the tDCS group. Specifi cally, tests tapping on executive functions and automatic electrophysiological attention responses showed positive modulations. Conclusions: The consistency of behavioral and electrophysiological findings suggests that a moderately intensive NIBS protocol might mediate the empowerment of specific cognitive functions even in healthy aging people. Key message: Physiological aging is a dynamic process, where non-invasive interventions may capitalize on resources of the cognitive reserve to help improving cognitive functioning.
Published: 2015

46. Facial feedback effect explains the autonomic impairment in PD for emotional recognition

Author: Milone, Valeria, Cotelli, Maria, Manenti, Rosa, Cobelli, Chiara, Pala, Francesca, Balconi, Michela, Balconi, Michela (ORCID:0000-0002-8634-1951), Milone, Valeria, Cotelli, Maria, Manenti, Rosa, Cobelli, Chiara, Pala, Francesca, Balconi, Michela, and Balconi, Michela (ORCID:0000-0002-8634-1951)
Abstract: Parkinson’s Disease (PD) is a degenerative neurological disorder of the central nervous system with a strong impact on both social and emotional level. Parkinson patients typically present with emotional processing impairment in emotional experience and emotion recognition. However, it is not yet known whether these patients have lost the capability to feel the emotions intrinsically, to modulate to emotional experience associating subjective response with physiological modulations, or to decipher emotions in others. The present research aims at investigating the contribution of central, peripheral and facial feedback measures in PD patients when they processed emotional cues using a multilevel approach, comparting selfreport (appraisal), autonomic (Skin Conductance Response, SCR) and motor electromyographic (EMG zygomaticus and corrugators facial muscles) measures. The integration of these measures allowed firstly a direct comparison between the explicit appraisal of emotions (with specific reference to the two parameters of valence and arousal) and the autonomic responsiveness to emotions. Secondly the role of EMG (zygomaticus and corrugators muscle) in determining the central and peripheral modulation was explored. Indeed the facial feedback model supposed that the autonomic facial response by facial muscles may affect both the emotional appraisal and the physiological modulation. 20 patients have been selected and 34 healthy volunteers (HC), matched for age and education. PD patients observed and evaluated affective pictures that were chosen from International Affective Picture System (IAPS). These pictures concerned four types of stimuli: 10 pleasant – low and high arousal; 10 unpleasant – low and high arousal, 5 neutral. PD patients seemed to not adequately answer to the emotional categories which were considered salient in standard conditions (HC). Indeed, there was an autonomic impairment for a category- specific emotion (negative and high arousal). Particul
Published: 2015

47. The effect of a neuromodulation protocol on executive functions in healthy elderly: psychometric and EEG evidences

Author: Crivelli, Davide, Pala, Francesca, Finocchiaro, Roberta, Grippa, Elisabetta, Lecci, Giovanni, Balconi, Michela, Crivelli, Davide (ORCID:0000-0003-2221-2349), Balconi, Michela (ORCID:0000-0002-8634-1951), Crivelli, Davide, Pala, Francesca, Finocchiaro, Roberta, Grippa, Elisabetta, Lecci, Giovanni, Balconi, Michela, Crivelli, Davide (ORCID:0000-0003-2221-2349), and Balconi, Michela (ORCID:0000-0002-8634-1951)
Abstract: Executive functions tend to decrease their efficiency during the physiological aging process. Nevertheless, cognitive and brain reserves are thought to act as protective factors against cognitive decline and the re-activation of cognitive and neural networks by means of non-invasive brain stimulation (NIBS) may help in maintaining those reserves and improving functional profiles. The present research thus investigates the effect of prefrontal NIBS in empowering executive functions and electrophysiological attention responses in healthy elderly people. Twenty-two volunteers have been assigned to a control or NIBS group. The NIBS protocol (anodal transcranial Direct Current Stimulation) lasted eight weeks (three sessions per week), with twice-weekly administration of tasks tapping on executive functions. Participants’ cognitive and electrophysiological profiles have been assessed at the beginning, after the treatment period, and after six months. Data analyses showed interesting positive modulations in post-intervention performances for the NIBS group – specifically in tests tapping on executive functions and automatic electrophysiological attention responses. Besides, participants’ subjective reports of improvement in everyday functioning, behavioral and electrophysiological evidences suggest that a moderately intensive NIBS protocol might help in empowering specific cognitive functions even in healthy aging and hint at interesting implication for prevention and early intervention.
Published: 2015

48. Potenziamento cognitivo e strumenti di neuromodulazione nell’aging fisiologico: un approccio integrato tDCS-EEG

Author: CRIVELLI, DAVIDE, Canavesio, Ylenia, Pala, Francesca, FINOCCHIARO, ROBERTA, Cobelli, Chiara, Lecci, Giovanni, BALCONI, MICHELA, CRIVELLI, DAVIDE, Canavesio, Ylenia, Pala, Francesca, FINOCCHIARO, ROBERTA, Cobelli, Chiara, Lecci, Giovanni, and BALCONI, MICHELA
Published: 2014

49. Autoimmunity in Wiskott–Aldrich Syndrome: An Unsolved Enigma

Author: Catucci, Marco, primary, Castiello, Maria Carmina, additional, Pala, Francesca, additional, Bosticardo, Marita, additional, and Villa, Anna, additional
Published: 2012
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50. Distinct metabolic states govern skeletal muscle stem cell fates during prenatal and postnatal myogenesis

Author: Shahragim Tajbakhsh, Siham Yennek, Francesca Pala, Daniela Di Girolamo, Miria Ricchetti, Sébastien Mella, Laurent Chatre, Cellules Souches et Développement / Stem Cells and Development, Institut Pasteur [Paris]-Centre National de la Recherche Scientifique (CNRS), Università degli studi di Napoli Federico II, Institut Pasteur, Centre National pour la RechercheScientific and the Agence Nationale de la Recherche (Laboratoire d’Excellence Revive, Investissement d’Avenir, ANR-10-LABX- 73) and the EuropeanResearch Council (Advanced Research Grant 332893)., ANR-10-LABX-0073,REVIVE,Stem Cells in Regenerative Biology and Medicine(2010), European Project: 332893,332893, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), University of Naples Federico II = Università degli studi di Napoli Federico II, Pala, Francesca, Di Girolamo, Daniela, Mella, Sébastien, Yennek, Siham, Chatre, Laurent, Ricchetti, Miria, and Tajbakhsh, Shahragim
Subjects: 0301 basic medicine, Satellite Cells, Skeletal Muscle, [SDV]Life Sciences [q-bio], Oxidative phosphorylation, Mitochondrion, Biology, Peroxisome, Muscle Development, Mice, 03 medical and health sciences, Peroxisomes, medicine, Animals, Regeneration, Muscle, Skeletal, 10. No inequality, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Cell Proliferation, Myogenesis, Stem Cells, Regeneration (biology), Fatty Acids, Skeletal muscle, Cell Biology, Cell biology, Mitochondria, Metabolic pathway, Ageing, 030104 developmental biology, medicine.anatomical_structure, Metabolic state, Stem cell, Skeletal muscle stem cells, Oxidation-Reduction, Research Article
Abstract: During growth, homeostasis and regeneration, stem cells are exposed to different energy demands. Here, we characterise the metabolic pathways that mediate the commitment and differentiation of mouse skeletal muscle stem cells, and how their modulation can influence the cell state. We show that quiescent satellite stem cells have low energetic demands and perturbed oxidative phosphorylation during ageing, which is also the case for cells from post-mortem tissues. We show also that myogenic fetal cells have distinct metabolic requirements compared to those proliferating during regeneration, with the former displaying a low respiration demand relying mostly on glycolysis. Furthermore, we show distinct requirements for peroxisomal and mitochondrial fatty acid oxidation (FAO) in myogenic cells. Compromising peroxisomal but not mitochondrial FAO promotes early differentiation of myogenic cells. Acute muscle injury and pharmacological block of peroxisomal and mitochondrial FAO expose differential requirements for these organelles during muscle regeneration. Taken together, these observations indicate that changes in myogenic cell state lead to significant alterations in metabolic requirements. In addition, perturbing specific metabolic pathways impacts on myogenic cell fates and the regeneration process., Summary: Distinct energy metabolism pathways act during mouse skeletal muscle stem cell commitment and differentiation in different physiological states.
Published: 2018

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