228 results on '"Pala, Francesca"'
Search Results
2. Genetically corrected RAG2-SCID human hematopoietic stem cells restore V(D)J-recombinase and rescue lymphoid deficiency
- Author
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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.
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- 2024
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3. Thymic inborn errors of immunity
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Pala, Francesca, Notarangelo, Luigi D., and Lionakis, Michail S.
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- 2024
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4. Transplantation after CD45-ADC corrects Rag1 immunodeficiency in congenic and haploidentical settings
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Pala, Francesca, Corsino, Cristina, Calzoni, Enrica, Villa, Anna, Pittaluga, Stefania, Palchaudhuri, Rahul, Bosticardo, Marita, and Notarangelo, Luigi D.
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- 2024
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5. Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients
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Yakici, Nalan, Kreins, Alexandra Y., Catak, Mehmet Cihangir, Babayeva, Royala, Erman, Baran, Kenney, Heather, Gungor, Hatice Eke, Cea, Pablo A., Kawai, Tomoki, Bosticardo, Marita, Delmonte, Ottavia Maria, Adams, Stuart, Fan, Yu-Tong, Pala, Francesca, Turkyilmaz, Ayberk, Howley, Evey, Worth, Austen, Kot, Hakan, Sefer, Asena Pinar, Kara, Altan, Bulutoglu, Alper, Bilgic-Eltan, Sevgi, Altunbas, Melek Yorgun, Bayram Catak, Feyza, Karakus, Ibrahim Serhat, Karatay, Emrah, Tekeoglu, Sidem Didar, Eser, Metin, Albayrak, Davut, Citli, Senol, Kiykim, Ayca, Karakoc-Aydiner, Elif, Ozen, Ahmet, Ghosh, Sujal, Gohlke, Holger, Orhan, Fazil, Notarangelo, Luigi D., Davies, E. Graham, and Baris, Safa
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- 2023
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6. Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia
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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.
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- 2020
7. Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19
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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.
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- 2022
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8. Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia.
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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]
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- 2024
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9. 184 RECQL4 mutation is associated with a hematopoietic-cell-intrinsic severe T cell deficiency and is amenable to treatment with unconditioned, unmanipulated hematopoietic stem cell transplant
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Grier, Alexandra, primary, Bosticardo, Marita, additional, Pala, Francesca, additional, Amini, Kayla, additional, Anaya, Eduardo, additional, Notarangelo, Luigi, additional, and Heimall, Jennifer, additional
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- 2024
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10. The immunopathological landscape of human pre-TCRα deficiency: From rare to common variants
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Materna, Marie, primary, Delmonte, Ottavia M., additional, Bosticardo, Marita, additional, Momenilandi, Mana, additional, Conrey, Peyton E., additional, Charmeteau-De Muylder, Bénédicte, additional, Bravetti, Clotilde, additional, Bellworthy, Rebecca, additional, Cederholm, Axel, additional, Staels, Frederik, additional, Ganoza, Christian A., additional, Darko, Samuel, additional, Sayed, Samir, additional, Le Floc’h, Corentin, additional, Ogishi, Masato, additional, Rinchai, Darawan, additional, Guenoun, Andrea, additional, Bolze, Alexandre, additional, Khan, Taushif, additional, Gervais, Adrian, additional, Krüger, Renate, additional, Völler, Mirjam, additional, Palterer, Boaz, additional, Sadeghi-Shabestari, Mahnaz, additional, Langlois de Septenville, Anne, additional, Schramm, Chaim A., additional, Shah, Sanjana, additional, Tello-Cajiao, John J., additional, Pala, Francesca, additional, Amini, Kayla, additional, Campos, Jose S., additional, Lima, Noemia Santana, additional, Eriksson, Daniel, additional, Lévy, Romain, additional, Seeleuthner, Yoann, additional, Jyonouchi, Soma, additional, Ata, Manar, additional, Al Ali, Fatima, additional, Deswarte, Caroline, additional, Pereira, Anaïs, additional, Mégret, Jérôme, additional, Le Voyer, Tom, additional, Bastard, Paul, additional, Berteloot, Laureline, additional, Dussiot, Michaël, additional, Vladikine, Natasha, additional, Cardenas, Paula P., additional, Jouanguy, Emmanuelle, additional, Alqahtani, Mashael, additional, Hasan, Amal, additional, Thanaraj, Thangavel Alphonse, additional, Rosain, Jérémie, additional, Al Qureshah, Fahd, additional, Sabato, Vito, additional, Alyanakian, Marie Alexandra, additional, Leruez-Ville, Marianne, additional, Rozenberg, Flore, additional, Haddad, Elie, additional, Regueiro, Jose R., additional, Toribio, Maria L., additional, Kelsen, Judith R., additional, Salehi, Mansoor, additional, Nasiri, Shahram, additional, Torabizadeh, Mehdi, additional, Rokni-Zadeh, Hassan, additional, Changi-Ashtiani, Majid, additional, Vatandoost, Nasimeh, additional, Moravej, Hossein, additional, Akrami, Seyed Mohammad, additional, Mazloomrezaei, Mohsen, additional, Cobat, Aurélie, additional, Meyts, Isabelle, additional, Toyofuku, Etsushi, additional, Nishimura, Madoka, additional, Moriya, Kunihiko, additional, Mizukami, Tomoyuki, additional, Imai, Kohsuke, additional, Abel, Laurent, additional, Malissen, Bernard, additional, Al-Mulla, Fahd, additional, Alkuraya, Fowzan Sami, additional, Parvaneh, Nima, additional, von Bernuth, Horst, additional, Beetz, Christian, additional, Davi, Frédéric, additional, Douek, Daniel C., additional, Cheynier, Rémi, additional, Langlais, David, additional, Landegren, Nils, additional, Marr, Nico, additional, Morio, Tomohiro, additional, Shahrooei, Mohammad, additional, Schrijvers, Rik, additional, Henrickson, Sarah E., additional, Luche, Hervé, additional, Notarangelo, Luigi D., additional, Casanova, Jean-Laurent, additional, and Béziat, Vivien, additional
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- 2024
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11. Skewed TCR Alpha, but not Beta, Gene Rearrangements and Lymphoma Associated with a Pathogenic TRAC Variant
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Rawat, Amit, Singh, Ankita, Dobbs, Kerry, Pala, Francesca, Delmonte, Ottavia M., Vignesh, Pandiarajan, Jindal, Ankur Kumar, Gupta, Anju, Suri, Deepti, Kaur, Anit, Shandilya, Jitendra Kumar, Sachdeva, Man Updesh Singh, Walia, Mandeep, Regueiro, Jose R., Briones, Alejandro C., Notarangelo, Luigi D., and Singh, Surjit
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- 2021
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12. Gene Editing Rescues In vitro T Cell Development of RAG2-Deficient Induced Pluripotent Stem Cells in an Artificial Thymic Organoid System
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Gardner, Cameron L., Pavel-Dinu, Mara, Dobbs, Kerry, Bosticardo, Marita, Reardon, Paul K., Lack, Justin, DeRavin, Suk See, Le, Kent, Bello, Ezekiel, Pala, Francesca, Delmonte, Ottavia M., Malech, Harry, Montel-Hagan, Amelie, Crooks, Gay, Acuto, Oreste, Porteus, Matthew H., and Notarangelo, Luigi D.
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- 2021
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13. Novel EXTL3 Variants Causing Neuro-Immuno-Skeletal Dysplasia.
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Mehta, Sarah S., Sanosyan, Armen, Cooper, Megan A., Bednarski, Jeffrey J., Gooch, Catherine, Pala, Francesca, Amini, Kayla, Bosticardo, Marita, Notarangelo, Luigi D., and Kitcharoensakkul, Maleewan
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- 2024
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14. Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency
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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.
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- 2024
15. Exonic knockout and knockin gene editing in hematopoietic stem and progenitor cells rescues RAG1 immunodeficiency
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Castiello, Maria Carmina, primary, Brandas, Chiara, additional, Ferrari, Samuele, additional, Porcellini, Simona, additional, Sacchetti, Nicolò, additional, Canarutto, Daniele, additional, Draghici, Elena, additional, Merelli, Ivan, additional, Barcella, Matteo, additional, Pelosi, Gabriele, additional, Vavassori, Valentina, additional, Varesi, Angelica, additional, Jacob, Aurelien, additional, Scala, Serena, additional, Basso Ricci, Luca, additional, Paulis, Marianna, additional, Strina, Dario, additional, Di Verniere, Martina, additional, Sergi Sergi, Lucia, additional, Serafini, Marta, additional, Holland, Steven M., additional, Bergerson, Jenna R. E., additional, De Ravin, Suk See, additional, Malech, Harry L., additional, Pala, Francesca, additional, Bosticardo, Marita, additional, Brombin, Chiara, additional, Cugnata, Federica, additional, Calzoni, Enrica, additional, Crooks, Gay M., additional, Notarangelo, Luigi D., additional, Genovese, Pietro, additional, Naldini, Luigi, additional, and Villa, Anna, additional
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- 2024
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16. POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development
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Nichols-Vinueza, Diana X., Delmonte, Ottavia M., Bundy, Vanessa, Bosticardo, Marita, Zimmermann, Michael T., Dsouza, Nikita R., Pala, Francesca, Dobbs, Kerry, Stoddard, Jennifer, Niemela, Julie E., Kuehn, Hye Sun, Keller, Michael D., Rueda, Cesar M., Abraham, Roshini S., Urrutia, Raul, Rosenzweig, Sergio D., and Notarangelo, Luigi D.
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- 2021
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17. Mulibrey nanism and immunological complications: a comprehensive case report and literature review
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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
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- 2023
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18. Perturbations of the T-cell receptor repertoire in response to SARS-CoV-2 in immunocompetent and immunocompromised individuals.
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Delmonte, Ottavia M., primary, Oguz, Cihan, additional, Dobbs, Kerry, additional, Myint-Hpu, Katherine, additional, Palterer, Boaz, additional, Abers, Michael S., additional, Draper, Deborah, additional, Truong, Meng, additional, Kaplan, Ian M., additional, Gittelman, Rachel M., additional, Zhang, Yu, additional, Rosen, Lindsey B., additional, Snow, Andrew L., additional, Dalgard, Clifton L., additional, Burbelo, Peter D., additional, Imberti, Luisa, additional, Sottini, Alessandra, additional, Quiros-Roldan, Eugenia, additional, Castelli, Francesco, additional, Rossi, Camillo, additional, Brugnoni, Duilio, additional, Biondi, Andrea, additional, Bettini, Laura Rachele, additional, D’Angio’, Mariella, additional, Bonfanti, Paolo, additional, Anderson, Megan V., additional, Saracino, Annalisa, additional, Chironna, Maria, additional, Di Stefano, Mariantonietta, additional, Fiore, Jose Ramon, additional, Santantonio, Teresa, additional, Castagnoli, Riccardo, additional, Marseglia, Gian Luigi, additional, Magliocco, Mary, additional, Bosticardo, Marita, additional, Pala, Francesca, additional, Shaw, Elana, additional, Matthews, Helen, additional, Weber, Sarah E., additional, Xirasagar, Sandhya, additional, Barnett, Jason, additional, Oler, Andrew J., additional, Dimitrova, Dimana, additional, Bergerson, Jenna R.E., additional, McDermott, David H., additional, Rao, V. Koneti, additional, Murphy, Philip M., additional, Holland, Steven M., additional, Lisco, Andrea, additional, Su, Helen C., additional, Lionakis, Michail S., additional, Cohen, Jeffrey I., additional, Freeman, Alexandra F., additional, Snyder, Thomas M., additional, Lack, Justin, additional, and Notarangelo, Luigi D., additional
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- 2023
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19. A spatial human thymus cell atlas mapped to a continuous tissue axis
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Yayon, Nadav, primary, Kedlian, Veronika R., additional, Boehme, Lena, additional, Suo, Chenqu, additional, Wachter, Brianna, additional, Beuschel, Rebecca T., additional, Amsalem, Oren, additional, Polanski, Krzysztof, additional, Koplev, Simon, additional, Tuck, Elizabeth, additional, Dann, Emma, additional, Van Hulle, Jolien, additional, Perera, Shani, additional, Putteman, Tom, additional, Predeus, Alexander V., additional, Dabrowska, Monika, additional, Richardson, Laura, additional, Tudor, Catherine, additional, Kreins, Alexandra Y., additional, Engelbert, Justin, additional, Stephenson, Emily, additional, Kleshchevnikov, Vitalii, additional, De Rita, Fabrizio, additional, Crossland, David, additional, Bosticardo, Marita, additional, Pala, Francesca, additional, Prigmore, Elena, additional, Chipampe, Nana-Jane, additional, Prete, Martin, additional, Fei, Lijiang, additional, To, Ken, additional, Barker, Roger A., additional, He, Xiaoling, additional, Van Nieuwerburgh, Filip, additional, Bayraktar, Omer, additional, Patel, Minal, additional, Davies, Graham E., additional, Haniffa, Muzlifah A., additional, Uhlmann, Virginie, additional, Notarangelo, Luigi D., additional, Germain, Ronald N., additional, Radtke, Andrea J., additional, Marioni, John C., additional, Taghon, Tom, additional, and Teichmann, Sarah A., additional
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- 2023
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20. Characterization of the antispike IgG immune response to COVID-19 vaccines in people with a wide variety of immunodeficiencies
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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
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- 2023
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21. Corrigendum to “Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients” [Clinical Immunology 255 (2023) 109757]
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Yakici, Nalan, primary, Kreins, Alexandra Y., additional, Catak, Mehmet Cihangir, additional, Babayeva, Royala, additional, Erman, Baran, additional, Kenney, Heather, additional, Eke-Gungor, Hatice, additional, Cea, Pablo A., additional, Kawai, Tomoki, additional, Bosticardo, Marita, additional, Delmonte, Ottavia Maria, additional, Adams, Stuart, additional, Fan, Yu-Tong, additional, Pala, Francesca, additional, Turkyilmaz, Ayberk, additional, Howley, Evey, additional, Worth, Austen, additional, Kot, Hakan, additional, Sefer, Asena Pinar, additional, Kara, Altan, additional, Bulutoglu, Alper, additional, Bilgic-Eltan, Sevgi, additional, Yorgun Altunbas, Melek, additional, Bayram Catak, Feyza, additional, Karakus, Ibrahim Serhat, additional, Karatay, Emrah, additional, Tekeoglu, Sidem Didar, additional, Eser, Metin, additional, Albayrak, Davut, additional, Citli, Senol, additional, Kiykim, Ayca, additional, Karakoc-Aydiner, Elif, additional, Ozen, Ahmet, additional, Ghosh, Sujal, additional, Gohlke, Holger, additional, Orhan, Fazil, additional, Notarangelo, Luigi D., additional, Davies, E. Graham, additional, and Baris, Safa, additional
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- 2023
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22. 213 IKAROS negatively regulate memory T cell formation in humans
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Tagirasa, Ravichandra, Kueh, HyeSun, Bosticardo, Marita, Pala, Francesca, Amini, Kayla, Anaya, Eduardo, Stoddard, Jennifer, Niemela, Julie, Alsina, Laia, Seoane, Mario Framil, Dimitrova, Dimana, Oleastro, Matias, Bouso, Carolina, LWasserman, Richard, Notarangelo, Luigi, and Rosenzweig, Sergio
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- 2024
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23. Editorial: Viral escape of mucosal immunity in sexually transmitted diseases
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Criscuolo, Elena, primary, Pala, Francesca, additional, Siracusano, Gabriel, additional, and Venuti, Assunta, additional
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- 2023
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24. Transplantation after CD45-ADC corrects Rag1 immunodeficiency in congenic and haploidentical settings
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Pala, Francesca, primary, Corsino, Cristina, additional, Calzoni, Enrica, additional, Villa, Anna, additional, Pittaluga, Stefania, additional, Palchaudhuri, Rahul, additional, Bosticardo, Marita, additional, and Notarangelo, Luigi D., additional
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- 2023
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25. Correlation between levels of anti-cytokine antibodies, recombination activity of the mutant RAG proteins and clinical phenotype in patients with RAG deficiency
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Notarangelo, Luigi, primary, Kenney, Heather, additional, Rosen, Lindsey, additional, Bosticardo, Marita, additional, Delmonte, Ottavia, additional, Pala, Francesca, additional, Bergerson, Jenna, additional, Dimitrova, Dimana, additional, Freeman, Alexandra, additional, and Holland, Steven, additional
- Published
- 2023
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26. Artificial thymic organoids generated with peripheral blood CD34 +cells represent a quick and powerful tool to determine the nature of severe T cell lymphopenia
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Bosticardo, Marita, primary, Pala, Francesca, additional, Amini, Kayla, additional, Montel-Hagen, Amelie, additional, Crooks, Gay M, additional, and Notarangelo, Luigi D, additional
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- 2023
- Full Text
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27. Gut immunopathological signatures in Rag1 hypomorphic mice
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Pala, Francesca, primary, Castagnoli, Riccardo, additional, Lim, Ai Ing, additional, Bosticardo, Marita, additional, Fontana, Elena, additional, Oguz, Cihan, additional, Subramanian, Poorani, additional, Pittaluga, Stefania, additional, Belkaid, Yasmine, additional, and Notarangelo, Luigi, additional
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- 2023
- Full Text
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28. Generation of thymic epithelial progenitor cells from induced pluripotent stem cells obtained from patients with thymic defects
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Amini, Kayla, primary, Pala, Francesca, additional, Bosticardo, Marita, additional, and Notarangelo, Luigi D, additional
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- 2023
- Full Text
- View/download PDF
29. Correction to: Gene Editing Rescues in Vitro T Cell Development of RAG2-Deficient Induced Pluripotent Stem Cells in an Artificial Thymic Organoid System
- Author
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Gardner, Cameron L., Pavel-Dinu, Mara, Dobbs, Kerry, Bosticardo, Marita, Reardon, Paul K., Lack, Justin, DeRavin, Suk See, Le, Kent, Bello, Ezekiel, Pala, Francesca, Delmonte, Ottavia M., Malech, Harry, Montel-Hagen, Amelie, Crooks, Gay, Acuto, Oreste, Porteus, Matthew H., and Notarangelo, Luigi D.
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- 2021
- Full Text
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30. Inborn errors of OAS-RNase L in SARS-CoV-2-related multisystem inflammatory syndrome in children
- Author
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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
31. Water and Sanitation in Multan, Pakistan
- Author
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Soncini, Andrea, Bocchiola, Daniele, Rosso, Renzo, Meucci, Stefania, Pala, Francesca, Valé, Giorgio, Del Bo, Adalberto, editor, and Bignami, Daniele Fabrizio, editor
- Published
- 2014
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32. From Investigation to Intervention
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Balconi, Michela, primary, Pala, Francesca, additional, Crivelli, Davide, additional, and Milone, Valeria, additional
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- 2018
- Full Text
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33. B-cell reconstitution after lentiviral vector–mediated gene therapy in patients with Wiskott-Aldrich syndrome
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Castiello, Maria Carmina, Scaramuzza, Samantha, Pala, Francesca, Ferrua, Francesca, Uva, Paolo, Brigida, Immacolata, Sereni, Lucia, van der Burg, Mirjam, Ottaviano, Giorgio, Albert, Michael H., Grazia Roncarolo, Maria, Naldini, Luigi, Aiuti, Alessandro, Villa, Anna, and Bosticardo, Marita
- Published
- 2015
- Full Text
- View/download PDF
34. FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia
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Ghosh, Rajarshi, primary, Bosticardo, Marita, additional, Singh, Sunita, additional, Similuk, Morgan, additional, Delmonte, Ottavia M., additional, Pala, Francesca, additional, Peng, Christine, additional, Jodarski, Colleen, additional, Keller, Michael D., additional, Chinn, Ivan K., additional, Groves, Andrew K., additional, Notarangelo, Luigi D., additional, Walkiewicz, Magdalena A., additional, Chinen, Javier, additional, and Bundy, Vanessa, additional
- Published
- 2022
- Full Text
- View/download PDF
35. Inborn errors of OAS–RNase L in SARS-CoV-2–related multisystem inflammatory syndrome in children
- Author
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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
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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).
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- 2023
36. Isolation of Muscle Stem Cells from Mouse Skeletal Muscle
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Gayraud-Morel, Barbara, primary, Pala, Francesca, additional, Sakai, Hiroshi, additional, and Tajbakhsh, Shahragim, additional
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- 2017
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37. Correction to: Comparison of multiple transcriptomes exposes unified and divergent features of quiescent and activated skeletal muscle stem cells
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Pietrosemoli, Natalia, Mella, Sébastien, Yennek, Siham, Baghdadi, Meryem B., Sakai, Hiroshi, Sambasivan, Ramkumar, Pala, Francesca, Di Girolamo, Daniela, and Tajbakhsh, Shahragim
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- 2018
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38. Comparison of multiple transcriptomes exposes unified and divergent features of quiescent and activated skeletal muscle stem cells
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Pietrosemoli, Natalia, Mella, Sébastien, Yennek, Siham, Baghdadi, Meryem B., Sakai, Hiroshi, Sambasivan, Ramkumar, Pala, Francesca, Di Girolamo, Daniela, and Tajbakhsh, Shahragim
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- 2017
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39. Inborn errors of immunity associated with defects of thymic development
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Pala, Francesca, primary, Notarangelo, Luigi D., additional, and Bosticardo, Marita, additional
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- 2022
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40. Genetically Corrected RAG2-SCID Human Hematopoietic Stem Cells Restore V(D)J-Recombinase and Rescue Lymphoid Deficiency
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Pavel-Dinu, Mara, primary, Gardner, Cameron L., additional, Nakauchi, Yusuke, additional, Kawai, Tomoki, additional, Delmonte, Ottavia M, additional, Palterer, Boaz, additional, Bosticardo, Marita, additional, Pala, Francesca, additional, Viel, Sebastien, additional, Malech, Harry L., additional, Ghanim, Hana Y., additional, Bode, Nicole N., additional, Kurgan, Gavin L., additional, Vakulskas, Christopher A., additional, Sheikali, Adam, additional, Menezes, Sherah T., additional, Chrobok, Jade, additional, Gonzalez, Elaine M. Hernandez, additional, Majeti, Ravindra, additional, Notarangelo, Luigi D., additional, and Porteus, Matthew H., additional
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- 2022
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41. Immunopathological signatures in multisystem inflammatory syndrome in children and pediatric COVID-19
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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.
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- 2022
42. Lentiviral-mediated gene therapy restores b cell tolerance in Wiskott-Aldrich syndrome patients
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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
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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 [...]
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- 2015
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43. Characterization of thymic epithelial cell and thymocyte function and development in patients with thymic defects using scRNAseq profiling
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Bosticardo, Marita, primary, Pala, Francesca, additional, Oguz, Cihan, additional, Branco, Mackenzie, additional, Zhao, Chen, additional, Carr, Shamus R, additional, Rajan, Arun, additional, D’Udekem, Yves, additional, Delaney, Meghan, additional, and Notarangelo, Luigi D, additional
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- 2022
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44. Profound abnormalities in thymic epithelial cells in Rag1 hypomorphic mice: implications for immune reconstitution after stem cell transplantation
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Pala, Francesca, primary, Oguz, Cihan, additional, Corsino, Cristina, additional, Martins, Andrew, additional, Lack, Justin, additional, Tsang, John, additional, Notarangelo, Luigi, additional, and Bosticardo, Marita, additional
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- 2022
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45. Il ruolo dello psicologo nella presa in carico di pazienti con alterazioni delle funzioni cognitive
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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
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- 2021
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46. Multiomics approach identifies novel age-, time- and treatment-related immunopathological signatures in MIS-C and pediatric COVID-19
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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.
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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).
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- 2021
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47. SASH3variants cause a novel form of X-linked combined immunodeficiency with immune dysregulation
- Author
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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
- Full Text
- View/download PDF
48. RAG deficiencies: Recent advances in disease pathogenesis and novel therapeutic approaches
- Author
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Bosticardo, Marita, primary, Pala, Francesca, additional, and Notarangelo, Luigi D., additional
- Published
- 2021
- Full Text
- View/download PDF
49. Rediscovering the human thymus through cutting-edge technologies
- Author
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Pala, Francesca, Notarangelo, Luigi D., and Bosticardo, Marita
- Abstract
Recent technological advances have transformed our understanding of the human thymus. Innovations such as high-resolution imaging, single-cell omics, and organoid cultures, including thymic epithelial cell (TEC) differentiation and culture, and improvements in biomaterials, have further elucidated the thymus architecture, cellular dynamics, and molecular mechanisms underlying T cell development, and have unraveled previously unrecognized levels of stromal cell heterogeneity. These advancements offer unprecedented insights into thymic biology and hold promise for the development of novel therapeutic strategies for immune-related disorders.
- Published
- 2024
- Full Text
- View/download PDF
50. Water and Sanitation in Multan, Pakistan
- Author
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Soncini, Andrea, primary, Bocchiola, Daniele, additional, Rosso, Renzo, additional, Meucci, Stefania, additional, Pala, Francesca, additional, and Valé, Giorgio, additional
- Published
- 2013
- Full Text
- View/download PDF
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