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1. Clinical impact of transient lymphopenia

Author

Petramala, Luigi, Milito, Cinzia, Sarlo, Francesca, Servello, Adriana, Circosta, Francesco, Marino, Luca, Sardella, Germano, Trapani, Piero, D’aguanno, Giulio, Cimo’, Antonino, Galardo, Gioacchino, and Letizia, Claudio

Published
2024
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2. Common and Uncommon CT Findings in CVID-Related GL-ILD: Correlations with Clinical Parameters, Therapeutic Decisions and Potential Implications in the Differential Diagnosis

Author

Scarpa, Riccardo, Cinetto, Francesco, Milito, Cinzia, Gianese, Sabrina, Soccodato, Valentina, Buso, Helena, Garzi, Giulia, Carrabba, Maria, Messina, Emanuele, Panebianco, Valeria, Catalano, Carlo, Morana, Giovanni, Lougaris, Vassilios, Landini, Nicholas, and Bondioni, Maria Pia

Published
2023
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5. Long term longitudinal follow-up of an AD-HIES cohort: the impact of early diagnosis and enrollment to IPINet centers on the natural history of Job’s syndrome

Author

Carrabba, Maria, Dellepiane, Rosa Maria, Cortesi, Manuela, Baselli, Lucia Augusta, Soresina, Annarosa, Cirillo, Emilia, Giardino, Giuliana, Conti, Francesca, Dotta, Laura, Finocchi, Andrea, Cancrini, Caterina, Milito, Cinzia, Pacillo, Lucia, Cinicola, Bianca Laura, Cossu, Fausto, Consolini, Rita, Montin, Davide, Quinti, Isabella, Pession, Andrea, Fabio, Giovanna, Pignata, Claudio, Pietrogrande, Maria Cristina, and Badolato, Raffaele

Published
2023
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8. Coronavirus disease 2019 in patients with inborn errors of immunity: An international study

Author

Meyts, Isabelle, Bucciol, Giorgia, Quinti, Isabella, Neven, Bénédicte, Fischer, Alain, Seoane, Elena, Lopez-Granados, Eduardo, Gianelli, Carla, Robles-Marhuenda, Angel, Jeandel, Pierre-Yves, Paillard, Catherine, Sankaran, Vijay G, Demirdag, Yesim Yilmaz, Lougaris, Vassilios, Aiuti, Alessandro, Plebani, Alessandro, Milito, Cinzia, Dalm, Virgil ASH, Guevara-Hoyer, Kissy, Sánchez-Ramón, Silvia, Bezrodnik, Liliana, Barzaghi, Federica, Gonzalez-Granado, Luis Ignacio, Hayman, Grant R, Uzel, Gulbu, Mendonça, Leonardo Oliveira, Agostini, Carlo, Spadaro, Giuseppe, Badolato, Raffaele, Soresina, Annarosa, Vermeulen, François, Bosteels, Cedric, Lambrecht, Bart N, Keller, Michael, Mustillo, Peter J, Abraham, Roshini S, Gupta, Sudhir, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Freeman, Alexandra F, Yamazaki-Nakashimada, Marco, Scheffler-Mendoza, Selma, Espinosa-Padilla, Sara, Gennery, Andrew R, Jolles, Stephen, Espinosa, Yazmin, Poli, M Cecilia, Fieschi, Claire, Hauck, Fabian, Cunningham-Rundles, Charlotte, Mahlaoui, Nizar, Errors of Immunity, IUIS Committee of Inborn, Warnatz, Klaus, Sullivan, Kathleen E, and Tangye, Stuart G

Subjects
Vaccine Related, Clinical Research, Pneumonia & Influenza, Prevention, Pediatric, Emerging Infectious Diseases, Pneumonia, Infectious Diseases, Lung, Biodefense, Rare Diseases, Good Health and Well Being, Adolescent, Adult, Aged, COVID-19, Child, Child, Preschool, Female, Genetic Diseases, Inborn, Humans, Immunologic Deficiency Syndromes, Infant, Infant, Newborn, Male, Middle Aged, Retrospective Studies, Risk Factors, SARS-CoV-2, Severity of Illness Index, Young Adult, primary immunodeficiencies, inborn errors of immunity, hypogammaglobulinemia, immune dysregulation, IUIS Committee of Inborn Errors of Immunity, Immunology, Allergy
Abstract

BackgroundThere is uncertainty about the impact of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection in individuals with rare inborn errors of immunity (IEI), a population at risk of developing severe coronavirus disease 2019. This is relevant not only for these patients but also for the general population, because studies of IEIs can unveil key requirements for host defense.ObjectiveWe sought to describe the presentation, manifestations, and outcome of SARS-CoV-2 infection in IEI to inform physicians and enhance understanding of host defense against SARS-CoV-2.MethodsAn invitation to participate in a retrospective study was distributed globally to scientific, medical, and patient societies involved in the care and advocacy for patients with IEI.ResultsWe gathered information on 94 patients with IEI with SARS-CoV-2 infection. Their median age was 25 to 34 years. Fifty-three patients (56%) suffered from primary antibody deficiency, 9 (9.6%) had immune dysregulation syndrome, 6 (6.4%) a phagocyte defect, 7 (7.4%) an autoinflammatory disorder, 14 (15%) a combined immunodeficiency, 3 (3%) an innate immune defect, and 2 (2%) bone marrow failure. Ten were asymptomatic, 25 were treated as outpatients, 28 required admission without intensive care or ventilation, 13 required noninvasive ventilation or oxygen administration, 18 were admitted to intensive care units, 12 required invasive ventilation, and 3 required extracorporeal membrane oxygenation. Nine patients (7 adults and 2 children) died.ConclusionsThis study demonstrates that (1) more than 30% of patients with IEI had mild coronavirus disease 2019 (COVID-19) and (2) risk factors predisposing to severe disease/mortality in the general population also seemed to affect patients with IEI, including more younger patients. Further studies will identify pathways that are associated with increased risk of severe disease and are nonredundant or redundant for protection against SARS-CoV-2.

Published
2021

9. Defective peripheral B cell selection in common variable immune deficiency patients with autoimmune manifestations

Author

Friman, Vanda, Quinti, Isabella, Davydov, Alexey N., Shugay, Mikhail, Farroni, Chiara, Engström, Erik, Pour Akaber, Shirin, Barresi, Sabina, Mohamed, Ahmed, Pulvirenti, Federica, Milito, Cinzia, Granata, Guido, Giorda, Ezio, Ahlström, Sara, Karlsson, Johanna, Marasco, Emiliano, Marcellini, Valentina, Bocci, Chiara, Cascioli, Simona, Scarsella, Marco, Phad, Ganesh, Tilevik, Andreas, Tartaglia, Marco, Bemark, Mats, Chudakov, Dmitriy M., Carsetti, Rita, and Grimsholm, Ola

Published
2023
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11. The Impact of SARS-CoV-2 Infection in Patients with Inborn Errors of Immunity: the Experience of the Italian Primary Immunodeficiencies Network (IPINet)

Author

Giardino, Giuliana, Milito, Cinzia, Lougaris, Vassilios, Punziano, Alessandra, Carrabba, Maria, Cinetto, Francesco, Scarpa, Riccardo, Dellepiane, Rosa Maria, Ricci, Silvia, Rivalta, Beatrice, Conti, Francesca, Marzollo, Antonio, Firinu, Davide, Cirillo, Emilia, Lagnese, Gianluca, Cancrini, Caterina, Martire, Baldassare, Danieli, Maria Giovanna, Pession, Andrea, Vacca, Angelo, Azzari, Chiara, Fabio, Giovanna, Soresina, Annarosa, Agostini, Carlo, Spadaro, Giuseppe, Badolato, Raffaele, Cicalese, Maria Pia, Aiuti, Alessandro, Plebani, Alessandro, Quinti, Isabella, and Pignata, Claudio

Published
2022
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12. Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network

Author

Cirillo, Emilia, Polizzi, Agata, Soresina, Annarosa, Prencipe, Rosaria, Giardino, Giuliana, Cancrini, Caterina, Finocchi, Andrea, Rivalta, Beatrice, Dellepiane, Rosa M., Baselli, Lucia A., Montin, Davide, Trizzino, Antonino, Consolini, Rita, Azzari, Chiara, Ricci, Silvia, Lodi, Lorenzo, Quinti, Isabella, Milito, Cinzia, Leonardi, Lucia, Duse, Marzia, Carrabba, Maria, Fabio, Giovanna, Bertolini, Patrizia, Coccia, Paola, D’Alba, Irene, Pession, Andrea, Conti, Francesca, Zecca, Marco, Lunardi, Claudio, Bianco, Manuela Lo, Presti, Santiago, Sciuto, Laura, Micheli, Roberto, Bruzzese, Dario, Lougaris, Vassilios, Badolato, Raffaele, Plebani, Alessandro, Chessa, Luciana, and Pignata, Claudio

Published
2022
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13. Differential Diagnostic in Cellular Immunodeficiencies

Author

Quinti, Isabella, Miglionico, Marzia, Milito, Cinzia, Emmi, Lorenzo, Series Editor, Prisco, Domenico, Series Editor, Salvarani, Carlo, Editorial Board Member, Sinico, Renato Alberto, Editorial Board Member, Meroni, Pier Luigi, Editorial Board Member, Roccatello, Dario, Editorial Board Member, Matucci-Cerinic, Marco, Editorial Board Member, Gattorno, Marco, Editorial Board Member, de Benedetti, Fabrizio, Editorial Board Member, Cimaz, Rolando, Editorial Board Member, Plebani, Alessandro, Editorial Board Member, Baldari, Cosima Tatiana, Editorial Board Member, D'Elios, Mario Milco, Editorial Board Member, Vaglio, Augusto, Editorial Board Member, and Annunziato, Francesco, editor

Published
2021
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15. Sarcoidosis versus Granulomatous and Lymphocytic Interstitial Lung Disease in Common Variable Immunodeficiency: A Comparative Review.

Author

Buso, Helena, Discardi, Claudia, Bez, Patrick, Muscianisi, Francesco, Ceccato, Jessica, Milito, Cinzia, Firinu, Davide, Landini, Nicholas, Jones, Mark G., Felice, Carla, Rattazzi, Marcello, Scarpa, Riccardo, and Cinetto, Francesco

Subjects
COMMON variable immunodeficiency, INTERSTITIAL lung diseases, LUNG development, SARCOIDOSIS, QUALITY of life, OPEN-ended questions
Abstract

Sarcoidosis and Granulomatous and Lymphocytic Interstitial Lung Diseases (GLILD) are two rare entities primarily characterised by the development of Interstitial Lung Disease (ILD) in the context of systemic immune dysregulation. These two conditions partially share the immunological background and pathologic findings, with granuloma as the main common feature. In this narrative review, we performed a careful comparison between sarcoidosis and GLILD, with an overview of their main similarities and differences, starting from a clinical perspective and ending with a deeper look at the immunopathogenesis and possible target therapies. Sarcoidosis occurs in immunocompetent individuals, whereas GLILD occurs in patients affected by common variable immunodeficiency (CVID). Moreover, peculiar extrapulmonary manifestations and radiological and histological features may help distinguish the two diseases. Despite that, common pathogenetic pathways have been suggested and both these disorders can cause progressive impairment of lung function and variable systemic granulomatous and non-granulomatous complications, leading to significant morbidity, reduced quality of life, and survival. Due to the rarity of these conditions and the extreme clinical variability, there are still many open questions concerning their pathogenesis, natural history, and optimal management. However, if studied in parallel, these two entities might benefit from each other, leading to a better understanding of their pathogenesis and to more tailored treatment approaches. [ABSTRACT FROM AUTHOR]

Published
2024
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16. SARS-CoV-2 Vaccine Induced Atypical Immune Responses in Antibody Defects: Everybody Does their Best

Author

Salinas, Ane Fernandez, Mortari, Eva Piano, Terreri, Sara, Quintarelli, Concetta, Pulvirenti, Federica, Di Cecca, Stefano, Guercio, Marika, Milito, Cinzia, Bonanni, Livia, Auria, Stefania, Romaggioli, Laura, Cusano, Giuseppina, Albano, Christian, Zaffina, Salvatore, Perno, Carlo Federico, Spadaro, Giuseppe, Locatelli, Franco, Carsetti, Rita, and Quinti, Isabella

Published
2021
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18. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations

Author

Boztug, Kaan, Brunner, Juergen, Demel, Ulrike F., Förster-Waldl, Elisabeth, Gasteiger, Lukas M., Göschl, Lisa, Kojić, Marina, Schroll, Andrea, Seidel, Markus G., Wintergerst, Uwe, Wisgrill, Lukas, Sharapova, Svetlana O., Goffard, Jean-Christophe, Kerre, Tessa, Meyts, Isabelle, Roosens, Fine, Smet, Julie, Haerynck, Filomeen, Eric, Zelimir Pavle, Milenova, Veneta, Gagro, Alenka, Richter, Darko, Chovancova, Zita, Hlavackova, Eva, Litzman, Jiri, Milota, Tomas, Sediva, Anna, Elaziz, Dalia Abd, Alkady, Radwa Salaheldin, El Sayed El Hawary, Rabab, Eldash, Alia S., Galal, Nermeen, Lotfy, Sohilla, Meshaal, Safa S., Reda, Shereen M., Sobh, Ali, Elmarsafy, Aisha, Seppänen, Mikko R.J., Brosselin, Pauline, Courteille, Virginie, De Vergnes, Nathalie, Kracker, Sven, Pergent, Martine, Randrianomenjanahary, Philippe, Ahrenstorf, Gerrit, Albert, Michael H., Ankermann, Tobias, Atschekzei, Faranaz, Baumann, Ulrich, Becker, Benjamin C., Behrends, Uta, Belohradsky, Bernd H., Biegner, Anika-Kerstin, Binder, Nadine, Bode, Sebastian F.N., Boesecke, Christoph, Boetticher, Benedikt, Borte, Michael, Borte, Stephan, Classen, Carl Friedrich, Dirks, Johannes, Dückers, Gregor, El-Helou, Sabine, Ernst, Diana, Fasshauer, Maria, Fecker, Gisela, Felgentreff, Kerstin, Foell, Dirk, Ghosh, Sujal, Girschick, Hermann J., Goldacker, Sigune, Graf, Norbert, Graf, Dagmar, Greil, Johann, Hanitsch, Leif Gunnar, Hauck, Fabian, Heeg, Maximilian, Heine, Sabine I., Henes, Joerg C., Hoenig, Manfred, Holzer, Ursula, Holzinger, Dirk, Horneff, Gerd, Hundsdoerfer, Patrick, Jablonka, Alexandra, Jakoby, Donate, Joean, Oana, Kaiser-Labusch, Petra, Klemann, Christian, Kobbe, Robin, Körholz, Julia, Kramm, Christof M., Krüger, Renate, Landwehr-Kenzel, Sybille, Lehmberg, Kai, Liese, Johannes G., Lippert, Conrad Ferdinand, Maccari, Maria Elena, Masjosthusmann, Katja, Meinhardt, Andrea, Metzler, Markus, Morbach, Henner, Müller, Ingo, Naumann-Bartsch, Nora, Neubert, Jennifer, Niehues, Tim, Peter, Hans-Hartmut, Rieber, Nikolaus, Ritterbusch, Henrike, Rockstroh, Jürgen Kurt, Roesler, Joachim, Schauer, Uwe, Scheible, Raphael, Schmalzing, Marc, Schmidt, Reinhold Ernst, Schneider, Dominik T., Schreiber, Stefan, Schuetz, Catharina, Schulz, Ansgar, Schulze-Koops, Hendrik, Schulze-Sturm, Ulf, Schuster, Volker, Schwaneck, Eva C., Schwarz, Klaus, Schwarze-Zander, Carolynne, Sirin, Mehtap, Skapenko, Alla, Sogkas, Georgios, Sparber-Sauer, Monika, Speckmann, Carsten, Steinmann, Sandra, Stiehler, Sophie, Tenbrock, Klaus, von Bernuth, Horst, Warnatz, Klaus, Wasmuth, Jan-Christian, Weiss, Michael, Witte, Torsten, Wittke, Kirsten, Wittkowski, Helmut, Zeuner, Rainald A., Farmaki, Evangelia, Hatzistilianou, Maria N., Kakkas, Ioannis, Kanariou, Maria G., Kapousouzi, Androniki, Liatsis, Emmanouil, Maggina, Paraskevi, Papadopoulou-Alataki, Efimia, Raptaki, Maria, Speletas, Matthaios, Tantou, Sofia, Goda, Vera, Kriván, Gergely, Marodi, Laszlo, Abolhassani, Hassan, Aghamohammadi, Asghar, Rezaei, Nima, Feighery, Conleth, Leahy, Timothy Ronan, Ryan, Paul, Batzir, Nurit Assia, Garty, Ben Zion, Tamary, Hannah, Aiuti, Alessandro, Amodio, Donato, Azzari, Chiara, Barzaghi, Federica, Baselli, Lucia A., Cancrini, Caterina, Carrabba, Maria, Cazzaniga, Marco, Cesaro, Simone, Chinello, Matteo, Danieli, Maria Giovanna, Dellepiane, Rosa Maria, Fabio, Giovanna, Gambineri, Eleonora, Lodi, Lorenzo, Lougaris, Vassilios, Marasco, Carolina, Martire, Baldassarre, Marzollo, Antonio, Milito, Cinzia, Moschese, Viviana, Pignata, Claudio, Plebani, Alessandro, Porta, Fulvio, Quinti, Isabella, Ricci, Silvia, Soresina, Annarosa, Tommasini, Alberto, Vacca, Angelo, Vanessa, Clementina, Blažienė, Audra, Sitkauskiene, Brigita, Gowin, Ewelina, Heropolitańska-Pliszka, Edyta, Pietrucha, Barbara, Szaflarska, Anna, Więsik-Szewczyk, Ewa, Wolska-Kuśnierz, Beata, Esteves, Isabel, Faria, Emilia, Marques, Laura Hora, Neves, João Farela, Silva, Susana L., Teixeira, Carla, Pereira da Silva, Sara, Capilna, Brindusa Ruxandra, Guseva, Marina N., Shcherbina, Anna, Bobcakova, Anna, Ciznar, Peter, Gabzdilova, Juliana, Jesenak, Milos, Kapustova, Lenka, Orosova, Jaroslava, Petrovicova, Otilia, Raffac, Stefan, Kopač, Peter, Allende, Luis M., Antolí, Arnau, Blanch, Gemma Rocamora, Carbone, Javier, Dieli-Crimi, Romina, Garcia-Prat, Marina, Gil-Herrera, Juana, Gonzalez-Granado, Luis Ignacio, Agulló, Pilar Llobet, Olbrich, Peter, Parra-Martínez, Alba, Paz-Artal, Estela, Pleguezuelo, Daniel E., Rodríguez, Nerea Salmón, Sánchez-Ramón, Silvia, Santos-Pérez, Juan Luis, Solanich, Xavier, Soler-Palacin, Pere, González-Amores, Miriam, Ekwall, Olov, Fasth, Anders, Bitzenhofer-Grüber, Michaela, Candotti, Fabio, Dimitriou, Florentia, Heininger, Ulrich, Holbro, Andreas, Jandus, Peter, Kolios, Antonios G.A., Marschall, Karin, Schmid, Jana Pachlopnik, Posfay-Barbe, Klara M., Prader, Seraina, Reichenbach, Janine, Steiner, Urs C., Trück, Johannes, Bredius, Robbert G., de Kruijf- Bazen, Suzanne, de Vries, Esther, Henriet, Stefanie S.V., Kuijpers, Taco W., Potjewijd, Judith, Rutgers, Abraham, Stol, Kim, van Aerde, Koen J., Van den Berg, J. Merlijn, van de Ven, Annick A.J.M., Montfrans, Jorisvan, Aydemir, Sezin, Baris, Safa, Dogu, Figen, Ikinciogullari, Aydan, Karakoc-Aydiner, Elif, Kilic, Sara S., Kiykim, Ayca, Kökçü Karadağ, Şefika İlknur, Kutukculer, Necil, Ocak, Suheyla, UNAL, Ekrem, Boyarchuk, Oksana, Hilfanova, Anna, Kostyuchenko, Larysa V., Alachkar, Hana, Arkwright, Peter D., Baxendale, Helen E., Bernatoniene, Jolanta, Coulter, Tanya I., Garcez, Tomaz, Goddard, Sarah, Gompels, Mark M., Grigoriadou, Sofia, Herriot, Richard, Herwadkar, Archana, Huissoon, Aarnoud, Ibberson, Lisa, Nademi, Zoreh, Noorani, Sadia, Parvin, Shahnaz, Steele, Cathal Laurence, Thomas, Moira, Waruiru, Catherine, Yong, Patrick F.K., Bourne, Helen, Thalhammer, Julian, Kindle, Gerhard, Nieters, Alexandra, Rusch, Stephan, Fischer, Alain, Grimbacher, Bodo, Edgar, David, Buckland, Matthew, Mahlaoui, Nizar, and Ehl, Stephan

Published
2021
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19. Oropharyngeal microbial ecosystem perturbations influence the risk for acute respiratory infections in common variable immunodeficiency.

Author

Pulvirenti, Federica, Giufrè, Maria, Pentimalli, Tancredi M., Camilli, Romina, Milito, Cinzia, Villa, Annalisa, Sculco, Eleonora, Cerquetti, Marina, Pantosti, Annalisa, and Quinti, Isabella

Subjects
COMMON variable immunodeficiency, ECOLOGICAL disturbances, RESPIRATORY infections, MACHINE learning, PARAINFLUENZA viruses, MICROBIAL ecology
Abstract

Background: The respiratory tract microbiome is essential for human health and well-being and is determined by genetic, lifestyle, and environmental factors. Patients with Common Variable Immunodeficiency (CVID) suffer from respiratory and intestinal tract infections, leading to chronic diseases and increased mortality rates. While CVID patients' gut microbiota have been analyzed, data on the respiratory microbiome ecosystem are limited. Objective: This study aims to analyze the bacterial composition of the oropharynx of adults with CVID and its link with clinical and immunological features and risk for respiratory acute infections. Methods: Oropharyngeal samples from 72 CVID adults and 26 controls were collected in a 12-month prospective study. The samples were analyzed by metagenomic bacterial 16S ribosomal RNA sequencing and processed using the Quantitative Insights Into Microbial Ecology (QIME) pipeline. Differentially abundant species were identified and used to build a dysbiosis index. A machine learning model trained on microbial abundance data was used to test the power of microbiome alterations to distinguish between healthy individuals and CVID patients. Results: Compared to controls, the oropharyngeal microbiome of CVID patients showed lower alpha- and beta-diversity, with a relatively increased abundance of the order Lactobacillales, including the family Streptococcaceae. Intra-CVID analysis identified age >45 years, COPD, lack of IgA, and low residual IgMas associated with a reduced alpha diversity. Expansion of Haemophilus and Streptococcus genera was observed in patients with undetectable IgA and COPD, independent from recent antibiotic use. Patients receiving azithromycin as antibiotic prophylaxis had a higher dysbiosis score. Expansion of Haemophilus and Anoxybacillus was associated with acute respiratory infections within six months. Conclusions: CVID patients showed a perturbed oropharynx microbiota enriched with potentially pathogenic bacteria and decreased protective species. Low residual levels of IgA/IgM, chronic lung damage, anti antibiotic prophylaxis contributed to respiratory dysbiosis. [ABSTRACT FROM AUTHOR]

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

Author

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

Published
2020
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23. Reply to Özdemir, Ö. Allergic Disease with Selective IgA Deficiency. Comment on “Cinicola et al. The Allergic Phenotype of Children and Adolescents with Selective IgA Deficiency: A Longitudinal Monocentric Study. J. Clin. Med. 2022, 11, 5705”

Author

Cinicola, Bianca Laura, primary, Brindisi, Giulia, additional, Capponi, Martina, additional, Gori, Alessandra, additional, Loffredo, Lorenzo, additional, De Castro, Giovanna, additional, Anania, Caterina, additional, Spalice, Alberto, additional, Guido, Cristiana Alessia, additional, Milito, Cinzia, additional, Duse, Marzia, additional, Quinti, Isabella, additional, Pulvirenti, Federica, additional, and Zicari, Anna Maria, additional

Published
2023
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25. Decline of gastric cancer mortality in common variable immunodeficiency in the years 2018-2022

Author

Milito, Cinzia, primary, Pulvirenti, Federica, additional, Garzi, Giulia, additional, Sculco, Eleonora, additional, Cinetto, Francesco, additional, Firinu, Davide, additional, Lagnese, Gianluca, additional, Punziano, Alessandra, additional, Discardi, Claudia, additional, Costanzo, Giulia, additional, Felice, Carla, additional, Spadaro, Giuseppe, additional, Ferrari, Simona, additional, and Quinti, Isabella, additional

Published
2023
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27. Double-blind, placebo-controlled, randomized trial on low-dose azithromycin prophylaxis in patients with primary antibody deficiencies

Author

Milito, Cinzia, Pulvirenti, Federica, Cinetto, Francesco, Lougaris, Vassilios, Soresina, Annarosa, Pecoraro, Antonio, Vultaggio, Alessandra, Carrabba, Maria, Lassandro, Giuseppe, Plebani, Alessandro, Spadaro, Giuseppe, Matucci, Andrea, Fabio, Giovanna, Dellepiane, Rosa Maria, Martire, Baldassarre, Agostini, Carlo, Abeni, Damiano, Tabolli, Stefano, and Quinti, Isabella

Published
2019
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30. Diagnostic testing for GLILD in Common Variable Immunodeficiency: A Systematic Review

Author

Bintalib, Heba M, primary, Van De Ven, Annick A J M, additional, Jacob, Joseph, additional, Davidsen, Jesper R., additional, Fevanga, Børre, additional, Hanitsch, Leif G, additional, Routes, John, additional, Malphettes, Marion, additional, Van Montfrans, Joris, additional, Maglioned, Paul J., additional, Milito, Cinzia, additional, Warnatz, Klaus, additional, and Hurst, John R, additional

Published
2023
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31. Contributors

Author

Abers, Michael S., primary, Babushok, Daria V., additional, Ballow, Mark, additional, Boisson, Bertrand, additional, Bonagura, Vincent Robert, additional, Bonilla, Francisco A., additional, Bosco de Oliveira Filho, João, additional, Boztug, Kaan, additional, Broderick, Lori, additional, Butte, Manish J., additional, Candotti, Fabio, additional, Casanova, Jean-Laurent, additional, Chandrakasan, Shanmuganathan, additional, Condino-Neto, Antonio, additional, Crow, Yanick J., additional, Cunningham-Rundles, Charlotte, additional, Dalm, Virgil A.S.H., additional, de Jesus, Adriana A., additional, de Maio, Emma, additional, de Saint Basile, Geneviève, additional, de Vries, Esther, additional, Dokal, Inderjeet, additional, Duncan, Christopher J.A., additional, Durandy, A., additional, Ehl, Stephan, additional, Etzioni, Amos, additional, Ferguson, Polly J., additional, Fleisher, Thomas A., additional, Forbes-Satter, Lisa R., additional, Frank, Michael M., additional, Freeman, Alexandra F., additional, Frémond, Marie-Louise, additional, Frew, John W., additional, Fusaro, Mathieu, additional, Gambineri, Eleonora, additional, Ganetzky, Rebecca D., additional, Gennery, Andrew R., additional, Goldbach-Mansky, Raphaela, additional, Goldstein, Amy C., additional, Graham, John M., additional, Gupton, Stephanie E., additional, Haddad, Elie, additional, Hambleton, Sophie, additional, Hanson, Eric P., additional, Heimall, Jennifer, additional, Helfrich, Miep, additional, Henrickson, Sarah E., additional, Holland, Steven M., additional, Hsu, Amy P., additional, Jyonouchi, Soma, additional, Kashef, Sara, additional, Kelsen, Judith, additional, Khalil, Maya, additional, Klein, Christoph, additional, Kobrynski, Lisa, additional, Kohn, Donald B., additional, Kracker, S., additional, Krueger, James G., additional, Lavoie, Pascal M., additional, Lehman, Heather K., additional, Leiding, Jennifer W., additional, Lenardo, Michael J., additional, Levy, Ofer, additional, Lim, Allison Pecha, additional, Lionakis, Michail S., additional, Lisco, Andrea, additional, Lougaris, Vassilios, additional, Lugo Reyes, Saul O., additional, Markert, M. Louise, additional, Marsh, Rebecca A., additional, McCarthy, Elizabeth A., additional, Meyts, Isabelle, additional, Milito, Cinzia, additional, Milner, Joshua D., additional, Ming, Jeffrey E., additional, Moshous, Despina, additional, Müller, Ludmila, additional, Navrazhina, Kristina, additional, Nichols, Kim E., additional, Notarangelo, Luigi D., additional, Oksenhendler, Eric, additional, Orange, Jordan S., additional, Paganelli, Roberto, additional, Pawelec, Graham, additional, Pentimalli, Tancredi Massimo, additional, Perez, Elena E., additional, Picard, Capucine, additional, Plebani, Alessandro, additional, Porras, Oscar, additional, Przespolewski, Amanda C., additional, Puel, Anne, additional, Pulvirenti, Federica, additional, Quinti, Isabella, additional, Rezaei, Nima, additional, Rijkers, Ger T., additional, Rosenthal, David Walter, additional, Rosenzweig, Sergio D., additional, Segal, Brahm H., additional, Seppänen, Mikko R.J., additional, Sereti, Irini, additional, Shcherbina, Anna, additional, Sobacchi, Cristina, additional, Squire, Jacqueline D., additional, Stepensky, Polina, additional, Su, Helen C., additional, Sullivan, Kathleen E., additional, Torgerson, Troy R., additional, Uzel, Gulbu, additional, van der Burg, Mirjam, additional, Villa, Anna, additional, Villartay, Jean-Pierre de, additional, Warnatz, Klaus, additional, Wasserman, Richard L., additional, Weemaes, Corry M.R., additional, Yu, Joyce E., additional, Zhang, Shen-Ying, additional, and Ziegler, John B., additional

Published
2020
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33. Asplenia

Author

Pulvirenti, Federica, primary, de Maio, Emma, additional, Milito, Cinzia, additional, Paganelli, Roberto, additional, and Quinti, Isabella, additional

Published
2020
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36. Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group

Author

Schütz, Katharina, Alecsandru, Diana, Grimbacher, Bodo, Haddock, Jamanda, Bruining, Annemarie, Driessen, Gertjan, de Vries, Esther, van Hagen, Peter M., Hartmann, Ieneke, Fraioli, Francesco, Milito, Cinzia, Mitrevski, Milica, Quinti, Isabella, Serra, Goffredo, Kelleher, Peter, Loebinger, Michael, Litzman, Jiri, Postranecka, Vera, Thon, Vojtech, Babar, Judith, Condliffe, Alison M., Exley, Andrew, Kumararatne, Dinakantha, Screaton, Nick, Jones, Alison, Bondioni, Maria P., Lougaris, Vassilios, Plebani, Alessandro, Soresina, Annarosa, Sirignano, Cesare, Spadaro, Giuseppe, Galal, Nermeen, Gonzalez-Granado, Luis I., Dettmer, Sabine, Stirling, Robert, Chapel, Helen, Lucas, Mary, Patel, Smita, Farber, Claire-Michele, Meyts, Isabelle, Banerjee, Arpan K., Hackett, Scott, Hurst, John R., Warnatz, Klaus, Gathmann, Benjamin, Baumann, Ulrich, and for the Chest CT in Antibody Deficiency Group

Published
2019
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37. A beacon in the dark: COVID-19 course in CVID patients from two European countries: Different approaches, similar outcomes

Author

Milito, Cinzia, Firinu, Davide, Bez, Patrick, Villa, Annalisa, Punziano, Alessandra, Lagnese, Gianluca, Costanzo, Giulia, van Leeuwen, Leanne P M, Piazza, Beatrice, Deiana, Carla Maria, d'Ippolito, Giancarlo, Del Giacco, Stefano Renato, Rattazzi, Marcello, Spadaro, Giuseppe, Quinti, Isabella, Scarpa, Riccardo, Dalm, Virgil A S H, Cinetto, Francesco, Virology, Internal Medicine, Milito, Cinzia, Firinu, Davide, Bez, Patrick, Villa, Annalisa, Punziano, Alessandra, Lagnese, Gianluca, Costanzo, Giulia, van Leeuwen, Leanne P M, Piazza, Beatrice, Deiana, Carla Maria, D'Ippolito, Giancarlo, Del Giacco, Stefano Renato, Rattazzi, Marcello, Spadaro, Giuseppe, Quinti, Isabella, Scarpa, Riccardo, Dalm, Virgil A S H, and Cinetto, Francesco

Subjects
Common Variable Immunodeficiency (CVID), SDG 3 - Good Health and Well-being, SARS-CoV-2, precision medicine, Immunology, outpatient, Immunology and Allergy, COVID-19, risk factors
Abstract

BackgroundCVID patients present an increased risk of prolonged SARS-CoV-2 infection and re-infection and a higher COVID-19-related morbidity and mortality compared to the general population. Since 2021, different therapeutic and prophylactic strategies have been employed in vulnerable groups (vaccination, SARS-CoV-2 monoclonal antibodies and antivirals). The impact of treatments over the last 2 years has not been explored in international studies considering the emergence of viral variants and different management between countries.MethodsA multicenter retrospective/prospective real-life study comparing the prevalence and outcomes of SARS-CoV-2 infection between a CVID cohort from four Italian Centers (IT-C) and one cohort from the Netherlands (NL-C), recruiting 773 patients.Results329 of 773 CVID patients were found positive for SARS-CoV-2 infection between March 1st, 2020 and September 1st 2022. The proportion of CVID patients infected was comparable in both national sub-cohorts. During all waves, chronic lung disease, “complicated” phenotype, chronic immunosuppressive treatment and cardiovascular comorbidities impacted on hospitalization, whereas risk factors for mortality were older age, chronic lung disease, and bacterial superinfections. IT-C patients were significantly more often treated, both with antivirals and mAbs, than NL-C patients. Outpatient treatment, available only in Italy, started from the Delta wave. Despite this, no significant difference was found for COVID-19 severity between the two cohorts. However, pooling together specific SARS-CoV-2 outpatient treatments (mAbs and antivirals), we found a significant effect on the risk of hospitalization starting from Delta wave. Vaccination with ≥ 3 doses shortened RT-PCR positivity, with an additional effect only in patients receiving antivirals.ConclusionsThe two sub-cohorts had similar COVID-19 outcomes despite different treatment approaches. This points out that specific treatment should now be reserved for selected subgroups of CVID patients, based on pre-existing conditions.

Published
2023

38. Functional CVIDs phenotype clusters identified by the integration of immune parameters after BNT162b2 boosters

Author

Piano Mortari, Eva, primary, Pulvirenti, Federica, additional, Marcellini, Valentina, additional, Terreri, Sara, additional, Salinas, Ane Fernandez, additional, Ferrari, Simona, additional, Di Napoli, Giulia, additional, Guadagnolo, Daniele, additional, Sculco, Eleonora, additional, Albano, Christian, additional, Guercio, Marika, additional, Di Cecca, Stefano, additional, Milito, Cinzia, additional, Garzi, Giulia, additional, Pesce, Anna Maria, additional, Bonanni, Livia, additional, Sinibaldi, Matilde, additional, Bordoni, Veronica, additional, Di Cecilia, Serena, additional, Accordini, Silvia, additional, Castilletti, Concetta, additional, Agrati, Chiara, additional, Quintarelli, Concetta, additional, Zaffina, Salvatore, additional, Locatelli, Franco, additional, Carsetti, Rita, additional, and Quinti, Isabella, additional

Published
2023
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39. Diagnostic testing for interstitial lung disease in common variable immunodeficiency: a systematic review

Author

Bintalib, Heba M., primary, van de Ven, Annick, additional, Jacob, Joseph, additional, Davidsen, Jesper Rømhild, additional, Fevang, Børre, additional, Hanitsch, Leif G., additional, Malphettes, Marion, additional, van Montfrans, Joris, additional, Maglione, Paul J., additional, Milito, Cinzia, additional, Routes, John, additional, Warnatz, Klaus, additional, and Hurst, John R., additional

Published
2023
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40. SARS-CoV-2 pre-exposure prophylaxis with tixagevimab/cilgavimab (AZD7442) provides protection in inborn errors of immunity with antibody defects: a real-world experience.

Author

Pulvirenti, Federica, Garzi, Giulia, Milito, Cinzia, Sculco, Eleonora, Sciannamea, Maddalena, Napoli, Anna, Cinti, Lilia, Roberto, Piergiorgio, Punziano, Alessandra, Carrabba, Maria, Mortari, Eva Piano, Carsetti, Rita, Antonelli, Guido, and Quinti, Isabella

Subjects
PRE-exposure prophylaxis, COVID-19 pandemic, SARS-CoV-2, COMMON variable immunodeficiency, MONOCLONAL antibodies
Abstract

Background: Preventive strategies against severe COVID-19 in Inborn Errors of Immunity (IEI) include bivalent vaccines, treatment with SARS-CoV-2 monoclonal antibodies (mAbs), early antiviral therapies, and pre-exposure prophylaxis (PrEP). Objective: To assess the effectiveness of the PrEP with tixagevimab/cilgavimab (AZD7442) in IEI with primary antibody defects during the COVID-19 Omicron wave. Methods: A six-month prospective study evaluated the SARS-CoV-2 infection rate and the COVID-19 severity in the AZD7442 group, in the no-AZD7442 group, and in a group of patients with a recent SARS-CoV-2 infection (< three months). Spike-specific IgG levels were measured at regular intervals. Results: Six out of thirty-three patients (18%) and 54/170 patients (32%) became infected in the AZD7442 group and in the no-AZD7442 group, respectively. Within 90 days post-administration, the AZD7442 group was 85% less likely to be infected and 82% less likely to have a symptomatic disease than the no-AZD7442 group. This effect was lost thereafter. In the entire cohort, no mortality/hospitalisation was observed. The control group of 35 recently infected patients was 88% and 92% less likely to be infected than the AZD7442 and no-AZD7442 groups. Serum anti-Spike IgG reached the highest peak seven days post-AZD7442 PrEP then decreased, remaining over 1000 BAU/mL 180 days thereafter. Conclusion: In patients with IEI and antibody defects, AZD7442 prophylaxis had a transient protective effect, possibly lost possibly because of the appearance of new variants. However, PrEP with newer mAbs might still represent a feasible preventive strategy in the future in this population. [ABSTRACT FROM AUTHOR]

Published
2023
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43. Correction to: Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group

Author

Schütz, Katharina, Alecsandru, Diana, Grimbacher, Bodo, Haddock, Jamanda, Bruining, Annemarie, Driessen, Gertjan, de Vries, Esther, van Hagen, Peter M., Hartmann, Ieneke, Fraioli, Francesco, Milito, Cinzia, Mitrevski, Milica, Quinti, Isabella, Serra, Goffredo, Kelleher, Peter, Loebinger, Michael, Litzman, Jiri, Postranecka, Vera, Thon, Vojtech, Babar, Judith, Condliffe, Alison M., Exley, Andrew, Kumararatne, Dinakantha, Screaton, Nick, Jones, Alison, Bondioni, Maria P, Lougaris, Vassilios, Plebani, Alessandro, Soresina, Annarosa, Sirignano, Cesare, Spadaro, Giuseppe, Galal, Nermeen, Gonzalez-Granado, Luis I., Dettmer, Sabine, Stirling, Robert, Chapel, Helen, Lucas, Mary, Patel, Smita, Farber, Claire-Michele, Meyts, Isabelle, Banerjee, Arpan K, Hackett, Scott, Hurst, John R., Warnatz, Klaus, Gathmann, Benjamin, Weidemann, Jürgen, Berthold, Daniel, Baumann, Ulrich, and for the Chest CT in Antibody Deficiency Group

Published
2019
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45. Struggling with COVID-19 in Adult Inborn Errors of Immunity Patients: A Case Series of Combination Therapy and Multiple Lines of Therapy for Selected Patients.

Author

Bez, Patrick, D'ippolito, Giancarlo, Deiana, Carla Maria, Finco Gambier, Renato, Pica, Andrea, Costanzo, Giulia, Garzi, Giulia, Scarpa, Riccardo, Landini, Nicholas, Cinetto, Francesco, Firinu, Davide, and Milito, Cinzia

Subjects
CONVALESCENT plasma, COVID-19, MONOCLONAL antibodies, VACCINE effectiveness, ADULTS, CHILD patients
Abstract

Background: The SARS-CoV-2 infection is now a part of the everyday lives of immunocompromised patients, but the choice of treatment and the time of viral clearance can often be complex, exposing patients to possible complications. The role of the available antiviral and monoclonal therapies is a matter of debate, as are their effectiveness and potential related adverse effects. To date, in the literature, the amount of data on the use of combination therapies and on the multiple lines of anti-SARS-CoV-2 therapy available to the general population and especially to inborn error of immunity (IEI) patients is small. Methods: Here, we report a case series of five adult IEI patients managed as inpatients at three Italian IEI referral centers (Rome, Treviso, and Cagliari) treated with combination therapy or multiple therapeutic lines for SARS-CoV-2 infection, such as monoclonal antibodies (mAbs), antivirals, convalescent plasma (CP), mAbs plus antiviral, and CP combined with antiviral. Results: This study may support the use of combination therapy against SARS-CoV-2 in complicated IEI patients with predominant antibody deficiency and impaired vaccine response. [ABSTRACT FROM AUTHOR]

Published
2023
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46. Age-dependent NK cell dysfunctions in severe COVID-19 patients

Author

Fionda, Cinzia, primary, Ruggeri, Silvia, additional, Sciumè, Giuseppe, additional, Laffranchi, Mattia, additional, Quinti, Isabella, additional, Milito, Cinzia, additional, Palange, Paolo, additional, Menichini, Ilaria, additional, Sozzani, Silvano, additional, Frati, Luigi, additional, Gismondi, Angela, additional, Santoni, Angela, additional, and Stabile, Helena, additional

Published
2022
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47. Safety of mRNA COVID-19 Vaccines in Patients with Inborn Errors of Immunity: an Italian Multicentric Study

Author

Milito, Cinzia, primary, Cinetto, Francesco, additional, Garzi, Giulia, additional, Palladino, Andrea, additional, Puca, Marco, additional, Brambilla, Elena, additional, De Vitis, Camilla, additional, Costanzo, Giulia, additional, Scarpa, Riccardo, additional, Punziano, Alessandra, additional, Lagnese, Gianluca, additional, Del Giacco, Stefano, additional, Spadaro, Giuseppe, additional, Quinti, Isabella, additional, and Firinu, Davide, additional

Published
2022
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48. The Allergic Phenotype of Children and Adolescents with Selective IgA Deficiency: A Longitudinal Monocentric Study

Author

Cinicola, Bianca Laura, primary, Brindisi, Giulia, additional, Capponi, Martina, additional, Gori, Alessandra, additional, Loffredo, Lorenzo, additional, De Castro, Giovanna, additional, Anania, Caterina, additional, Spalice, Alberto, additional, Guido, Cristiana Alessia, additional, Milito, Cinzia, additional, Duse, Marzia, additional, Quinti, Isabella, additional, Pulvirenti, Federica, additional, and Zicari, Anna Maria, additional

Published
2022
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49. Common and uncommon CT findings in CVID related GL-ILD: correlations with clinical parameters, therapeutic decisions and potential implications in the differential diagnosis

Author

Scarpa, Riccardo, primary, Landini, Nicholas, additional, Cinetto, Francesco, additional, Milito, Cinzia, additional, Gianese, Sabrina, additional, Soccodato, Valentina, additional, Buso, Helena, additional, Garzi, Giulia, additional, Carrabba, Maria, additional, Messina, Emanuele, additional, Panebianco, Valeria, additional, Morana, Giovanni, additional, Lougaris, Vassilios, additional, Catalano, Carlo, additional, and Bondioni, Maria Pia, additional

Published
2022
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50. Real-life data on monoclonal antibodies and antiviral drugs in Italian inborn errors of immunity patients during COVID-19 pandemic

Author

Garzi, Giulia, primary, Cinetto, Francesco, additional, Firinu, Davide, additional, Di Napoli, Giulia, additional, Lagnese, Gianluca, additional, Punziano, Alessandra, additional, Bez, Patrick, additional, Cinicola, Bianca Laura, additional, Costanzo, Giulia, additional, Scarpa, Riccardo, additional, Pulvirenti, Federica, additional, Rattazzi, Marcello, additional, Spadaro, Giuseppe, additional, Quinti, Isabella, additional, and Milito, Cinzia, additional

Published
2022
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