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2. A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID

Author

Cesana, Daniela, Cicalese, Maria Pia, Calabria, Andrea, Merli, Pietro, Caruso, Roberta, Volpin, Monica, Rudilosso, Laura, Migliavacca, Maddalena, Barzaghi, Federica, Fossati, Claudia, Gazzo, Francesco, Pizzi, Simone, Ciolfi, Andrea, Bruselles, Alessandro, Tucci, Francesca, Spinozzi, Giulio, Pais, Giulia, Benedicenti, Fabrizio, Barcella, Matteo, Merelli, Ivan, Gallina, Pierangela, Giannelli, Stefania, Dionisio, Francesca, Scala, Serena, Casiraghi, Miriam, Strocchio, Luisa, Vinti, Luciana, Pacillo, Lucia, Draghi, Eleonora, Cesana, Marcella, Riccardo, Sara, Colantuono, Chiara, Six, Emmanuelle, Cavazzana, Marina, Carlucci, Filippo, Schmidt, Manfred, Cancrini, Caterina, Ciceri, Fabio, Vago, Luca, Cacchiarelli, Davide, Gentner, Bernhard, Naldini, Luigi, Tartaglia, Marco, Montini, Eugenio, Locatelli, Franco, and Aiuti, Alessandro

Published
2024
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3. Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency

Author

Migliavacca, Maddalena, Barzaghi, Federica, Fossati, Claudia, Rancoita, Paola M. V., Gabaldo, Michela, Dionisio, Francesca, Giannelli, Stefania, Salerio, Federica Andrea, Ferrua, Francesca, Tucci, Francesca, Calbi, Valeria, Gallo, Vera, Recupero, Salvatore, Consiglieri, Giulia, Pajno, Roberta, Sambuco, Maria, Priolo, Alessio, Ferri, Chiara, Garella, Vittoria, Monti, Ilaria, Silvani, Paolo, Darin, Silvia, Casiraghi, Miriam, Corti, Ambra, Zancan, Stefano, Levi, Margherita, Cesana, Daniela, Carlucci, Filippo, Pituch-Noworolska, Anna, AbdElaziz, Dalia, Baumann, Ulrich, Finocchi, Andrea, Cancrini, Caterina, Ladogana, Saverio, Meinhardt, Andrea, Meyts, Isabelle, Montin, Davide, Notarangelo, Lucia Dora, Porta, Fulvio, Pasquet, Marlène, Speckmann, Carsten, Stepensky, Polina, Tommasini, Alberto, Rabusin, Marco, Karakas, Zeynep, Galicchio, Miguel, Leonardi, Lucia, Duse, Marzia, Guner, Sukru Nail, Di Serio, Clelia, Ciceri, Fabio, Bernardo, Maria Ester, Aiuti, Alessandro, and Cicalese, Maria Pia

Published
2024
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4. Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease

Author

Sharma, Mehul, Leung, Daniel, Momenilandi, Mana, Jones, Lauren CW, Pacillo, Lucia, James, Alyssa E, Murrell, Jill R, Delafontaine, Selket, Maimaris, Jesmeen, Vaseghi-Shanjani, Maryam, Del Bel, Kate L, Lu, Henry Y, Chua, Gilbert T, Di Cesare, Silvia, Fornes, Oriol, Liu, Zhongyi, Di Matteo, Gigliola, Fu, Maggie P, Amodio, Donato, San Tam, Issan Yee, Chan, Gavin Shueng Wai, Sharma, Ashish A, Dalmann, Joshua, van der Lee, Robin, Blanchard-Rohner, Géraldine, Lin, Susan, Philippot, Quentin, Richmond, Phillip A, Lee, Jessica J, Matthews, Allison, Seear, Michael, Turvey, Alexandra K, Philips, Rachael L, Brown-Whitehorn, Terri F, Gray, Christopher J, Izumi, Kosuke, Treat, James R, Wood, Kathleen H, Lack, Justin, Khleborodova, Asya, Niemela, Julie E, Yang, Xingtian, Liang, Rui, Kui, Lin, Wong, Christina Sze Man, Poon, Grace Wing Kit, Hoischen, Alexander, van der Made, Caspar I, Yang, Jing, Chan, Koon Wing, Da Rosa Duque, Jaime Sou, Lee, Pamela Pui Wah, Ho, Marco Hok Kung, Chung, Brian Hon Yin, Le, Huong Thi Minh, Yang, Wanling, Rohani, Pejman, Fouladvand, Ali, Rokni-Zadeh, Hassan, Changi-Ashtiani, Majid, Miryounesi, Mohammad, Puel, Anne, Shahrooei, Mohammad, Finocchi, Andrea, Rossi, Paolo, Rivalta, Beatrice, Cifaldi, Cristina, Novelli, Antonio, Passarelli, Chiara, Arasi, Stefania, Bullens, Dominique, Sauer, Kate, Claeys, Tania, Biggs, Catherine M, Morris, Emma C, Rosenzweig, Sergio D, O’Shea, John J, Wasserman, Wyeth W, Bedford, H Melanie, van Karnebeek, Clara DM, Palma, Paolo, Burns, Siobhan O, Meyts, Isabelle, Casanova, Jean-Laurent, Lyons, Jonathan J, Parvaneh, Nima, Van Nguyen, Anh Thi, Cancrini, Caterina, Heimall, Jennifer, Ahmed, Hanan, McKinnon, Margaret L, Lau, Yu Lung, Béziat, Vivien, and Turvey, Stuart E

Subjects
Genetics, Rare Diseases, Clinical Research, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Humans, STAT6 Transcription Factor, Gain of Function Mutation, Asthma, Food Hypersensitivity, Immunoglobulin E, Medical and Health Sciences, Immunology
Abstract

STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a central role in the pathophysiology of allergic inflammation. We have identified 16 patients from 10 families spanning three continents with a profound phenotype of early-life onset allergic immune dysregulation, widespread treatment-resistant atopic dermatitis, hypereosinophilia with esosinophilic gastrointestinal disease, asthma, elevated serum IgE, IgE-mediated food allergies, and anaphylaxis. The cases were either sporadic (seven kindreds) or followed an autosomal dominant inheritance pattern (three kindreds). All patients carried monoallelic rare variants in STAT6 and functional studies established their gain-of-function (GOF) phenotype with sustained STAT6 phosphorylation, increased STAT6 target gene expression, and TH2 skewing. Precision treatment with the anti-IL-4Rα antibody, dupilumab, was highly effective improving both clinical manifestations and immunological biomarkers. This study identifies heterozygous GOF variants in STAT6 as a novel autosomal dominant allergic disorder. We anticipate that our discovery of multiple kindreds with germline STAT6 GOF variants will facilitate the recognition of more affected individuals and the full definition of this new primary atopic disorder.

Published
2023

6. 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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7. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Author

Seidel, Markus G., Seppänen, Mikko R.J., Gennery, Andrew, Kanariou, Maria G., Tantou, Sofia, Grigoriadou, Sofia, Cericola, Gabriella, Hanitsch, Leif G., Scheibenbogen, Carmen, Hlaváčková, Eva O., Krivan, Gergely, McGuire, Frances K., Leahy, Timothy Ronan, Edgar, John David M., Bakhtiar, Shahrzad, Bader, Peter, Rohner, Geraldine Blanchard, Haerynck, Filomeen, Claes, Karlien, Lehmberg, Kai, Müller, Ingo, Farmand, Susan, Fasshauer, Maria, Graf, Dagmar, Neves, Joao Farela, Kostyuchenko, Larysa, Gonzalez-Granado, Luis Ignacio, Jeseňák, Miloš, Carrabba, Maria, Fabio, Giovanna, Pignata, Claudio, Giardino, Giuliana, Karadağ, Ilknur Kökçü, Yıldıran, Alişan, Hancioglu, Gonca, Králíčková, Pavlína, Steinmann, Sandra, Pietrucha, Barbara Maria, Gernert, Michael, Soomann, Maarja, Witte, Torsten, Markocsy, Adam, Wolska-Kusnierz, Beata, Randrianomenjanahary, Philippe, Rouger, Jérémie, Kostaridou, Stavroula, Zabara, Dariia V., Rodina, Yulia A., Shvets, Oksana A., Maccari, Maria Elena, Wolkewitz, Martin, Schwab, Charlotte, Lorenzini, Tiziana, Leiding, Jennifer W., Aladjdi, Nathalie, Abolhassani, Hassan, Abou-Chahla, Wadih, Aiuti, Alessandro, Azarnoush, Saba, Baris, Safa, Barlogis, Vincent, Barzaghi, Federica, Baumann, Ulrich, Bloomfield, Marketa, Bohynikova, Nadezda, Bodet, Damien, Boutboul, David, Bucciol, Giorgia, Buckland, Matthew S., Burns, Siobhan O., Cancrini, Caterina, Cathébras, Pascal, Cavazzana, Marina, Cheminant, Morgane, Chinello, Matteo, Ciznar, Peter, Coulter, Tanya I., D’Aveni, Maud, Ekwall, Olov, Eric, Zelimir, Eren, Efrem, Fasth, Anders, Frange, Pierre, Fournier, Benjamin, Garcia-Prat, Marina, Gardembas, Martine, Geier, Christoph, Ghosh, Sujal, Goda, Vera, Hammarström, Lennart, Hauck, Fabian, Heeg, Maximilian, Heropolitanska-Pliszka, Edyta, Hilfanova, Anna, Jolles, Stephen, Karakoc-Aydiner, Elif, Kindle, Gerhard R., Kiykim, Ayca, Klemann, Christian, Koletsi, Patra, Koltan, Sylwia, Kondratenko, Irina, Körholz, Julia, Krüger, Renate, Jeziorski, Eric, Levy, Romain, Le Guenno, Guillaume, Lefevre, Guillaume, Lougaris, Vassilios, Marzollo, Antonio, Mahlaoui, Nizar, Malphettes, Marion, Meinhardt, Andrea, Merlin, Etienne, Meyts, Isabelle, Milota, Tomas, Moreira, Fernando, Moshous, Despina, Mukhina, Anna, Neth, Olaf, Neubert, Jennifer, Neven, Benedicte, Nieters, Alexandra, Nove-Josserand, Raphaele, Oksenhendler, Eric, Ozen, Ahmet, Olbrich, Peter, Perlat, Antoinette, Pac, Malgorzata, Schmid, Jana Pachlopnik, Pacillo, Lucia, Parra-Martinez, Alba, Paschenko, Olga, Pellier, Isabelle, Sefer, Asena Pinar, Plebani, Alessandro, Plantaz, Dominique, Prader, Seraina, Raffray, Loic, Ritterbusch, Henrike, Riviere, Jacques G., Rivalta, Beatrice, Rusch, Stephan, Sakovich, Inga, Savic, Sinisa, Scheible, Raphael, Schleinitz, Nicolas, Schuetz, Catharina, Schulz, Ansgar, Sediva, Anna, Semeraro, Michaela, Sharapova, Svetlana O., Shcherbina, Anna, Slatter, Mary A., Sogkas, Georgios, Soler-Palacin, Pere, Speckmann, Carsten, Stephan, Jean-Louis, Suarez, Felipe, Tommasini, Alberto, Trück, Johannes, Uhlmann, Annette, van Aerde, Koen J., van Montfrans, Joris, von Bernuth, Horst, Warnatz, Klaus, Williams, Tony, Worth, Austen J.J., Ip, Winnie, Picard, Capucine, Catherinot, Emilie, Nademi, Zohreh, Grimbacher, Bodo, Forbes Satter, Lisa R., Kracker, Sven, Chandra, Anita, Condliffe, Alison M., and Ehl, Stephan

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

Author

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

Published
2023
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9. 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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10. Epstein–Barr virus‐associated smooth muscle tumor in a female with ataxia telangiectasia: A case report

Author

Rivalta, Beatrice, primary, Zangari, Paola, additional, Pacillo, Lucia, additional, Manno, Emma Concetta, additional, Santilli, Veronica, additional, Rotulo, Gioacchino Andrea, additional, Cotugno, Nicola, additional, Rossetti, Chiara, additional, Vallese, Silvia, additional, Paglietti, Maria Giovanna, additional, Tomà, Paolo, additional, Pardi, Valerio, additional, Inserra, Alessandro, additional, Francalanci, Paola, additional, Milano, Giuseppe Maria, additional, Alaggio, Rita, additional, Cancrini, Caterina, additional, Finocchi, Andrea, additional, Palma, Paolo, additional, and Amodio, Donato, additional

Published
2024
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11. 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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12. Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency

Author

Farmer, Jocelyn R, Foldvari, Zsofia, Ujhazi, Boglarka, De Ravin, Suk See, Chen, Karin, Bleesing, Jack JH, Schuetz, Catharina, Al-Herz, Waleed, Abraham, Roshini S, Joshi, Avni Y, Costa-Carvalho, Beatriz T, Buchbinder, David, Booth, Claire, Reiff, Andreas, Ferguson, Polly J, Aghamohammadi, Asghar, Abolhassani, Hassan, Puck, Jennifer M, Adeli, Mehdi, Cancrini, Caterina, Palma, Paolo, Bertaina, Alice, Locatelli, Franco, Di Matteo, Gigliola, Geha, Raif S, Kanariou, Maria G, Lycopoulou, Lilia, Tzanoudaki, Marianna, Sleasman, John W, Parikh, Suhag, Pinero, Gloria, Fischer, Bernard M, Dbaibo, Ghassan, Unal, Ekrem, Patiroglu, Turkan, Karakukcu, Musa, Al-Saad, Khulood Khalifa, Dilley, Meredith A, Pai, Sung-Yun, Dutmer, Cullen M, Gelfand, Erwin W, Geier, Christoph B, Eibl, Martha M, Wolf, Hermann M, Henderson, Lauren A, Hazen, Melissa M, Bonfim, Carmem, Wolska-Kuśnierz, Beata, Butte, Manish J, Hernandez, Joseph D, Nicholas, Sarah K, Stepensky, Polina, Chandrakasan, Shanmuganathan, Miano, Maurizio, Westermann-Clark, Emma, Goda, Vera, Kriván, Gergely, Holland, Steven M, Fadugba, Olajumoke, Henrickson, Sarah E, Ozen, Ahmet, Karakoc-Aydiner, Elif, Baris, Safa, Kiykim, Ayca, Bredius, Robbert, Hoeger, Birgit, Boztug, Kaan, Pashchenko, Olga, Neven, Benedicte, Moshous, Despina, Villartay, Jean-Pierre de, Bousfiha, Ahmed Aziz, Hill, Harry R, Notarangelo, Luigi D, and Walter, Jolan E

Subjects
Autoimmune Disease, Genetics, Hematology, Inflammatory and immune system, Adolescent, Adult, Autoimmunity, Child, Child, Preschool, Female, Hematopoietic Stem Cell Transplantation, Homeodomain Proteins, Humans, Immunologic Deficiency Syndromes, Immunosuppressive Agents, Infant, Inflammation, Male, Middle Aged, Treatment Outcome, Young Adult, Recombination activating gene, Severe combined immunodeficiency, Immune dysregulation, Autoimmune cytopenias, Hematopoietic stem cell transplantation
Abstract

BACKGROUND:Although autoimmunity and hyperinflammation secondary to recombination activating gene (RAG) deficiency have been associated with delayed diagnosis and even death, our current understanding is limited primarily to small case series. OBJECTIVE:Understand the frequency, severity, and treatment responsiveness of autoimmunity and hyperinflammation in RAG deficiency. METHODS:In reviewing the literature and our own database, we identified 85 patients with RAG deficiency, reported between 2001 and 2016, and compiled the largest case series to date of 63 patients with prominent autoimmune and/or hyperinflammatory pathology. RESULTS:Diagnosis of RAG deficiency was delayed a median of 5 years from the first clinical signs of immune dysregulation. Most patients (55.6%) presented with more than 1 autoimmune or hyperinflammatory complication, with the most common etiologies being cytopenias (84.1%), granulomas (23.8%), and inflammatory skin disorders (19.0%). Infections, including live viral vaccinations, closely preceded the onset of autoimmunity in 28.6% of cases. Autoimmune cytopenias had early onset (median, 1.9, 2.1, and 2.6 years for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively) and were refractory to intravenous immunoglobulin, steroids, and rituximab in most cases (64.7%, 73.7%, and 71.4% for autoimmune hemolytic anemia, immune thrombocytopenia, and autoimmune neutropenia, respectively). Evans syndrome specifically was associated with lack of response to first-line therapy. Treatment-refractory autoimmunity/hyperinflammation prompted hematopoietic stem cell transplantation in 20 patients. CONCLUSIONS:Autoimmunity/hyperinflammation can be a presenting sign of RAG deficiency and should prompt further evaluation. Multilineage cytopenias are often refractory to immunosuppressive treatment and may require hematopoietic cell transplantation for definitive management.

Published
2019

13. Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature

Author

Marzollo, Antonio, Conti, Francesca, Rossini, Linda, Rivalta, Beatrice, Leonardi, Lucia, Tretti, Caterina, Tosato, Francesca, Chiriaco, Maria, Ursu, Giorgiana Madalina, Natalucci, Cristina Tea, Martella, Maddalena, Borghesi, Alessandro, Mancini, Cecilia, Ciolfi, Andrea, di Matteo, Gigliola, Tartaglia, Marco, Cancrini, Caterina, Dotta, Andrea, Biffi, Alessandra, Finocchi, Andrea, and Bresolin, Silvia

Published
2022
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14. Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients

Author

Cifaldi, Cristina, Rivalta, Beatrice, Amodio, Donato, Mattia, Algeri, Pacillo, Lucia, Di Cesare, Silvia, Chiriaco, Maria, Ursu, Giorgiana Madalina, Cotugno, Nicola, Giancotta, Carmela, Manno, Emma C., Santilli, Veronica, Zangari, Paola, Federica, Galaverna, Palumbo, Giuseppe, Merli, Pietro, Palma, Paolo, Rossi, Paolo, Di Matteo, Gigliola, Locatelli, Franco, Finocchi, Andrea, and Cancrini, Caterina

Published
2022
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16. Use of dupilumab for atopic dermatitis in pediatric and young adult patients with inborn errors of immunity.

Author

Zangari, Paola, Giancotta, Carmela, Pacillo, Lucia, Colantoni, Nicole, Leone, Fabrizio, Amodio, Donato, Santilli, Veronica, Manno, Emma Concetta, Cotugno, Nicola, Rivalta, Beatrice, Rotulo, Gioacchino Andrea, Di Cesare, Silvia, Diociaiuti, Andrea, El Hachem, May, Cancrini, Caterina, Finocchi, Andrea, and Palma, Paolo

Subjects
MONONUCLEAR leukocytes, HEMATOPOIETIC stem cell transplantation, INFLAMMATORY bowel diseases, RESPIRATORY infections, LEUCOCYTES, WARTS, ATOPY
Abstract

This article discusses the use of dupilumab, a biologic medication, for the treatment of atopic dermatitis (AD) in pediatric and young adult patients with inborn errors of immunity (IEIs). The medication has been approved for use in children with moderate to severe AD who have inadequate control with topical therapies. The article presents case studies of patients with IEIs and AD who were treated with dupilumab, showing significant clinical improvement as early as week 4 of treatment. However, further studies are needed to evaluate the long-term safety and efficacy of dupilumab in this patient population. [Extracted from the article]

Published
2024
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17. Mechanisms of genotype-phenotype correlation in autosomal dominant anhidrotic ectodermal dysplasia with immune deficiency

Author

Petersheim, Daniel, Massaad, Michel J, Lee, Saetbyul, Scarselli, Alessia, Cancrini, Caterina, Moriya, Kunihiko, Sasahara, Yoji, Lankester, Arjan C, Dorsey, Morna, Di Giovanni, Daniela, Bezrodnik, Liliana, Ohnishi, Hidenori, Nishikomori, Ryuta, Tanita, Kay, Kanegane, Hirokazu, Morio, Tomohiro, Gelfand, Erwin W, Jain, Ashish, Secord, Elizabeth, Picard, Capucine, Casanova, Jean-Laurent, Albert, Michael H, Torgerson, Troy R, and Geha, Raif S

Subjects
Genetics, Aetiology, 2.1 Biological and endogenous factors, Carrier Proteins, Chemokine CCL20, Ectodermal Dysplasia, Genetic Diseases, X-Linked, Genotype, HEK293 Cells, Humans, Immunologic Deficiency Syndromes, Intercellular Adhesion Molecule-1, Interleukin-6, NF-KappaB Inhibitor alpha, NF-kappa B p52 Subunit, Point Mutation, Primary Immunodeficiency Diseases, Proto-Oncogene Mas, Signal Transduction, Ectodermal dysplasia with immune deficiency, NF-kappa B inhibitor alpha, canonical nuclear factor kappa B pathway, noncanonical nuclear factor kappa B pathway, lymphorganogenesis, hematopoietic stem cell transplantation, NF-κB inhibitor α, canonical nuclear factor κB pathway, noncanonical nuclear factor κB pathway, Immunology, Allergy
Abstract

BackgroundAutosomal dominant anhidrotic ectodermal dysplasia with immune deficiency (AD EDA-ID) is caused by heterozygous point mutations at or close to serine 32 and serine 36 or N-terminal truncations in IκBα that impair its phosphorylation and degradation and thus activation of the canonical nuclear factor κ light chain enhancer of activated B cells (NF-κB) pathway. The outcome of hematopoietic stem cell transplantation is poor in patients with AD EDA-ID despite achievement of chimerism. Mice heterozygous for the serine 32I mutation in IκBα have impaired noncanonical NF-κB activity and defective lymphorganogenesis.ObjectiveWe sought to establish genotype-phenotype correlation in patients with AD EDA-ID.MethodsA disease severity scoring system was devised. Stability of IκBα mutants was examined in transfected cells. Immunologic, biochemical, and gene expression analyses were performed to evaluate canonical and noncanonical NF-κB signaling in skin-derived fibroblasts.ResultsDisease severity was greater in patients with IκBα point mutations than in those with truncation mutations. IκBα point mutants were expressed at significantly higher levels in transfectants compared with truncation mutants. Canonical NF-κB-dependent IL-6 secretion and upregulation of the NF-κB subunit 2/p100 and RELB proto-oncogene, NF-κB subunit (RelB) components of the noncanonical NF-κB pathway were diminished significantly more in patients with point mutations compared with those with truncations. Noncanonical NF-κB-driven generation of the transcriptionally active p100 cleavage product p52 and upregulation of CCL20, intercellular adhesion molecule 1 (ICAM1), and vascular cell adhesion molecule 1 (VCAM1), which are important for lymphorganogenesis, were diminished significantly more in LPS plus α-lymphotoxin β receptor-stimulated fibroblasts from patients with point mutations compared with those with truncations.ConclusionsIκBα point mutants accumulate at higher levels compared with truncation mutants and are associated with more severe disease and greater impairment of canonical and noncanonical NF-κB activity in patients with AD EDA-ID.

Published
2018

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

Author

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

Published
2024
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22. Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

Author

Dobbs, Kerry, Tabellini, Giovanna, Calzoni, Enrica, Patrizi, Ornella, Martinez, Paula, Giliani, Silvia Clara, Moratto, Daniele, Al-Herz, Waleed, Cancrini, Caterina, Cowan, Morton, Bleesing, Jacob, Booth, Claire, Buchbinder, David, Burns, Siobhan O, Chatila, Talal A, Chou, Janet, Daza-Cajigal, Vanessa, de Bruin, Lisa M Ott, de la Morena, Maite Teresa, Di Matteo, Gigliola, Finocchi, Andrea, Geha, Raif, Goyal, Rakesh K, Hayward, Anthony, Holland, Steven, Huang, Chiung-Hui, Kanariou, Maria G, King, Alejandra, Kaplan, Blanka, Kleva, Anastasiya, Kuijpers, Taco W, Lee, Bee Wah, Lougaris, Vassilios, Massaad, Michel, Meyts, Isabelle, Morsheimer, Megan, Neven, Benedicte, Pai, Sung-Yun, Parvaneh, Nima, Plebani, Alessandro, Prockop, Susan, Reisli, Ismail, Soh, Jian Yi, Somech, Raz, Torgerson, Troy R, Kim, Yae-Jean, Walter, Jolan E, Gennery, Andrew R, Keles, Sevgi, Manis, John P, Marcenaro, Emanuela, Moretta, Alessandro, Parolini, Silvia, and Notarangelo, Luigi D

Subjects
natural killer cells, recombinase-activating genes, non-homologous end joining, immunodeficiency, CD56, interferon-gamma, degranulation, interferon-γ, Immunology, Medical Microbiology
Abstract

[This corrects the article on p. 798 in vol. 8, PMID: 28769923.].

Published
2017

23. Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

Author

Dobbs, Kerry, Tabellini, Giovanna, Calzoni, Enrica, Patrizi, Ornella, Martinez, Paula, Giliani, Silvia Clara, Moratto, Daniele, Al-Herz, Waleed, Cancrini, Caterina, Cowan, Morton, Bleesing, Jacob, Booth, Claire, Buchbinder, David, Burns, Siobhan O, Chatila, Talal A, Chou, Janet, Daza-Cajigal, Vanessa, de Bruin, Lisa M Ott, de la Morena, Maite Teresa, Di Matteo, Gigliola, Finocchi, Andrea, Geha, Raif, Goyal, Rakesh K, Hayward, Anthony, Holland, Steven, Huang, Chiung-Hui, Kanariou, Maria G, King, Alejandra, Kaplan, Blanka, Kleva, Anastasiya, Kuijpers, Taco W, Lee, Bee Wah, Lougaris, Vassilios, Massaad, Michel, Meyts, Isabelle, Morsheimer, Megan, Neven, Benedicte, Pai, Sung-Yun, Parvaneh, Nima, Plebani, Alessandro, Prockop, Susan, Reisli, Ismail, Soh, Jian Yi, Somech, Raz, Torgerson, Troy R, Kim, Yae-Jaen, Walter, Jolan E, Gennery, Andrew R, Keles, Sevgi, Manis, John P, Marcenaro, Emanuela, Moretta, Alessandro, Parolini, Silvia, and Notarangelo, Luigi D

Subjects
Genetics, Rare Diseases, Stem Cell Research, Regenerative Medicine, Transplantation, Stem Cell Research - Nonembryonic - Human, natural killer cells, recombinase-activating genes, non-homologous end joining, immunodeficiency, CD56, interferon-gamma, degranulation, interferon-γ, Immunology, Medical Microbiology
Abstract

Mutations of the recombinase-activating genes 1 and 2 (RAG1 and RAG2) in humans are associated with a broad range of phenotypes. For patients with severe clinical presentation, hematopoietic stem cell transplantation (HSCT) represents the only curative treatment; however, high rates of graft failure and incomplete immune reconstitution have been observed, especially after unconditioned haploidentical transplantation. Studies in mice have shown that Rag-/- natural killer (NK) cells have a mature phenotype, reduced fitness, and increased cytotoxicity. We aimed to analyze NK cell phenotype and function in patients with mutations in RAG and in non-homologous end joining (NHEJ) genes. Here, we provide evidence that NK cells from these patients have an immature phenotype, with significant expansion of CD56bright CD16-/int CD57- cells, yet increased degranulation and high perforin content. Correlation was observed between in vitro recombinase activity of the mutant proteins, NK cell abnormalities, and in vivo clinical phenotype. Addition of serotherapy in the conditioning regimen, with the aim of depleting the autologous NK cell compartment, may be important to facilitate engraftment and immune reconstitution in patients with RAG and NHEJ defects treated by HSCT.

Published
2017

24. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Author

Stray-Pedersen, Asbjørg, Sorte, Hanne Sørmo, Samarakoon, Pubudu, Gambin, Tomasz, Chinn, Ivan K, Akdemir, Zeynep H Coban, Erichsen, Hans Christian, Forbes, Lisa R, Gu, Shen, Yuan, Bo, Jhangiani, Shalini N, Muzny, Donna M, Rødningen, Olaug Kristin, Sheng, Ying, Nicholas, Sarah K, Noroski, Lenora M, Seeborg, Filiz O, Davis, Carla M, Canter, Debra L, Mace, Emily M, Vece, Timothy J, Allen, Carl E, Abhyankar, Harshal A, Boone, Philip M, Beck, Christine R, Wiszniewski, Wojciech, Fevang, Børre, Aukrust, Pål, Tjønnfjord, Geir E, Gedde-Dahl, Tobias, Hjorth-Hansen, Henrik, Dybedal, Ingunn, Nordøy, Ingvild, Jørgensen, Silje F, Abrahamsen, Tore G, Øverland, Torstein, Bechensteen, Anne Grete, Skogen, Vegard, Osnes, Liv TN, Kulseth, Mari Ann, Prescott, Trine E, Rustad, Cecilie F, Heimdal, Ketil R, Belmont, John W, Rider, Nicholas L, Chinen, Javier, Cao, Tram N, Smith, Eric A, Caldirola, Maria Soledad, Bezrodnik, Liliana, Reyes, Saul Oswaldo Lugo, Rosales, Francisco J Espinosa, Guerrero-Cursaru, Nina Denisse, Pedroza, Luis Alberto, Poli, Cecilia M, Franco, Jose L, Vargas, Claudia M Trujillo, Becerra, Juan Carlos Aldave, Wright, Nicola, Issekutz, Thomas B, Issekutz, Andrew C, Abbott, Jordan, Caldwell, Jason W, Bayer, Diana K, Chan, Alice Y, Aiuti, Alessandro, Cancrini, Caterina, Holmberg, Eva, West, Christina, Burstedt, Magnus, Karaca, Ender, Yesil, Gözde, Artac, Hasibe, Bayram, Yavuz, Atik, Mehmed Musa, Eldomery, Mohammad K, Ehlayel, Mohammad S, Jolles, Stephen, Flatø, Berit, Bertuch, Alison A, Hanson, I Celine, Zhang, Victor W, Wong, Lee-Jun, Hu, Jianhong, Walkiewicz, Magdalena, Yang, Yaping, Eng, Christine M, Boerwinkle, Eric, Gibbs, Richard A, Shearer, William T, Lyle, Robert, Orange, Jordan S, and Lupski, James R

Subjects
Biomedical and Clinical Sciences, Immunology, Human Genome, Prevention, Clinical Research, Genetic Testing, Genetics, Rare Diseases, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Good Health and Well Being, Adolescent, Adult, Aged, Child, Child, Preschool, DNA Copy Number Variations, Female, Genomics, High-Throughput Nucleotide Sequencing, Humans, Immunologic Deficiency Syndromes, Infant, Male, Middle Aged, Young Adult, Primary immunodeficiency disease, whole-exome sequencing, copy number variants, Allergy
Abstract

BackgroundPrimary immunodeficiency diseases (PIDDs) are clinically and genetically heterogeneous disorders thus far associated with mutations in more than 300 genes. The clinical phenotypes derived from distinct genotypes can overlap. Genetic etiology can be a prognostic indicator of disease severity and can influence treatment decisions.ObjectiveWe sought to investigate the ability of whole-exome screening methods to detect disease-causing variants in patients with PIDDs.MethodsPatients with PIDDs from 278 families from 22 countries were investigated by using whole-exome sequencing. Computational copy number variant (CNV) prediction pipelines and an exome-tiling chromosomal microarray were also applied to identify intragenic CNVs. Analytic approaches initially focused on 475 known or candidate PIDD genes but were nonexclusive and further tailored based on clinical data, family history, and immunophenotyping.ResultsA likely molecular diagnosis was achieved in 110 (40%) unrelated probands. Clinical diagnosis was revised in about half (60/110) and management was directly altered in nearly a quarter (26/110) of families based on molecular findings. Twelve PIDD-causing CNVs were detected, including 7 smaller than 30 Kb that would not have been detected with conventional diagnostic CNV arrays.ConclusionThis high-throughput genomic approach enabled detection of disease-related variants in unexpected genes; permitted detection of low-grade constitutional, somatic, and revertant mosaicism; and provided evidence of a mutational burden in mixed PIDD immunophenotypes.

Published
2017

25. Characterization of T and B cell repertoire diversity in patients with RAG deficiency

Author

Lee, Yu Nee, Frugoni, Francesco, Dobbs, Kerry, Tirosh, Irit, Du, Likun, Ververs, Francesca A, Ru, Heng, Ott de Bruin, Lisa, Adeli, Mehdi, Bleesing, Jacob H, Buchbinder, David, Butte, Manish J, Cancrini, Caterina, Chen, Karin, Choo, Sharon, Elfeky, Reem A, Finocchi, Andrea, Fuleihan, Ramsay L, Gennery, Andrew R, El-Ghoneimy, Dalia H, Henderson, Lauren A, Al-Herz, Waleed, Hossny, Elham, Nelson, Robert P, Pai, Sung-Yun, Patel, Niraj C, Reda, Shereen M, Soler-Palacin, Pere, Somech, Raz, Palma, Paolo, Wu, Hao, Giliani, Silvia, Walter, Jolan E, and Notarangelo, Luigi D

Subjects
Biomedical and Clinical Sciences, Immunology, Genetics, Rare Diseases, Biotechnology, Aetiology, 2.1 Biological and endogenous factors, Clinical sciences
Abstract

Recombination-activating genes 1 and 2 (RAG1 and RAG2) play a critical role in T and B cell development by initiating the recombination process that controls the expression of T cell receptor (TCR) and immunoglobulin genes. Mutations in the RAG1 and RAG2 genes in humans cause a broad spectrum of phenotypes, including severe combined immunodeficiency (SCID) with lack of T and B cells, Omenn syndrome, leaky SCID, and combined immunodeficiency with granulomas or autoimmunity (CID-G/AI). Using next-generation sequencing, we analyzed the TCR and B cell receptor (BCR) repertoire in 12 patients with RAG mutations presenting with Omenn syndrome (n = 5), leaky SCID (n = 3), or CID-G/AI (n = 4). Restriction of repertoire diversity skewed usage of variable (V), diversity (D), and joining (J) segment genes, and abnormalities of CDR3 length distribution were progressively more prominent in patients with a more severe phenotype. Skewed usage of V, D, and J segment genes was present also within unique sequences, indicating a primary restriction of repertoire. Patients with Omenn syndrome had a high proportion of class-switched immunoglobulin heavy chain transcripts and increased somatic hypermutation rate, suggesting in vivo activation of these B cells. These data provide a framework to better understand the phenotypic heterogeneity of RAG deficiency.

Published
2016

26. 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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27. Rituximab Unveils Hypogammaglobulinemia and Immunodeficiency in Children with Autoimmune Cytopenia

Author

Ottaviano, Giorgio, Marinoni, Maddalena, Graziani, Simona, Sibson, Keith, Barzaghi, Federica, Bertolini, Patrizia, Chini, Loredana, Corti, Paola, Cancrini, Caterina, D'Alba, Irene, Gabelli, Maria, Gallo, Vera, Giancotta, Carmela, Giordano, Paola, Lassandro, Giuseppe, Martire, Baldassare, Angarano, Rosa, Mastrodicasa, Elena, Bava, Cecilia, Miano, Maurizio, Naviglio, Samuele, Verzegnassi, Federico, Saracco, Paola, Trizzino, Antonino, Biondi, Andrea, Pignata, Claudio, and Moschese, Viviana

Published
2020
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28. The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019)

Author

Lougaris, Vassilios, Pession, Andrea, Baronio, Manuela, Soresina, Annarosa, Rondelli, Roberto, Gazzurelli, Luisa, Benvenuto, Alessio, Martino, Silvana, Gattorno, Marco, Biondi, Andrea, Zecca, Marco, Marinoni, Maddalena, Fabio, Giovanna, Aiuti, Alessandro, Marseglia, Gianluigi, Putti, Maria Caterina, Agostini, Carlo, Lunardi, Claudio, Tommasini, Alberto, Bertolini, Patrizia, Gambineri, Eleonora, Consolini, Rita, Matucci, Andrea, Azzari, Chiara, Danieli, Maria Giovanna, Paganelli, Roberto, Duse, Marzia, Cancrini, Caterina, Moschese, Viviana, Chessa, Luciana, Spadaro, Giuseppe, Civino, Adele, Vacca, Angelo, Cardinale, Fabio, Martire, Baldassare, Carpino, Luigi, Trizzino, Antonino, Russo, Giovanna, Cossu, Fausto, Badolato, Raffaele, Pietrogrande, Maria Cristina, Quinti, Isabella, Rossi, Paolo, Ugazio, Alberto, Pignata, Claudio, and Plebani, Alessandro

Published
2020
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29. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Author

Walter, Jolan E, Rosen, Lindsey B, Csomos, Krisztian, Rosenberg, Jacob M, Mathew, Divij, Keszei, Marton, Ujhazi, Boglarka, Chen, Karin, Lee, Yu Nee, Tirosh, Irit, Dobbs, Kerry, Al-Herz, Waleed, Cowan, Morton J, Puck, Jennifer, Bleesing, Jack J, Grimley, Michael S, Malech, Harry, De Ravin, Suk See, Gennery, Andrew R, Abraham, Roshini S, Joshi, Avni Y, Boyce, Thomas G, Butte, Manish J, Nadeau, Kari C, Balboni, Imelda, Sullivan, Kathleen E, Akhter, Javeed, Adeli, Mehdi, El-Feky, Reem A, El-Ghoneimy, Dalia H, Dbaibo, Ghassan, Wakim, Rima, Azzari, Chiara, Palma, Paolo, Cancrini, Caterina, Capuder, Kelly, Condino-Neto, Antonio, Costa-Carvalho, Beatriz T, Oliveira, Joao Bosco, Roifman, Chaim, Buchbinder, David, Kumanovics, Attila, Franco, Jose Luis, Niehues, Tim, Schuetz, Catharina, Kuijpers, Taco, Yee, Christina, Chou, Janet, Masaad, Michel J, Geha, Raif, Uzel, Gulbu, Gelman, Rebecca, Holland, Steven M, Recher, Mike, Utz, Paul J, Browne, Sarah K, and Notarangelo, Luigi D

Subjects
Animals, Mice, Inbred Strains, Humans, Mice, Virus Diseases, Granulomatous Disease, Chronic, Severe Combined Immunodeficiency, Autoimmune Diseases, Disease Models, Animal, DNA-Binding Proteins, Homeodomain Proteins, Nuclear Proteins, Autoantibodies, Autoantigens, Cytokines, Antibody Specificity, Adolescent, Adult, Child, Child, Preschool, Infant, Female, Male, Toll-Like Receptors, DEAD-box RNA Helicases, Young Adult, Antibodies, Neutralizing, Interferon-Induced Helicase, IFIH1, Autoimmune Disease, Genetics, Biotechnology, Infectious Diseases, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Medical and Health Sciences, Immunology
Abstract

Patients with mutations of the recombination-activating genes (RAG) present with diverse clinical phenotypes, including severe combined immune deficiency (SCID), autoimmunity, and inflammation. However, the incidence and extent of immune dysregulation in RAG-dependent immunodeficiency have not been studied in detail. Here, we have demonstrated that patients with hypomorphic RAG mutations, especially those with delayed-onset combined immune deficiency and granulomatous/autoimmune manifestations (CID-G/AI), produce a broad spectrum of autoantibodies. Neutralizing anti-IFN-α or anti-IFN-ω antibodies were present at detectable levels in patients with CID-G/AI who had a history of severe viral infections. As this autoantibody profile is not observed in a wide range of other primary immunodeficiencies, we hypothesized that recurrent or chronic viral infections may precipitate or aggravate immune dysregulation in RAG-deficient hosts. We repeatedly challenged Rag1S723C/S723C mice, which serve as a model of leaky SCID, with agonists of the virus-recognizing receptors TLR3/MDA5, TLR7/-8, and TLR9 and found that this treatment elicits autoantibody production. Altogether, our data demonstrate that immune dysregulation is an integral aspect of RAG-associated immunodeficiency and indicate that environmental triggers may modulate the phenotypic expression of autoimmune manifestations.

Published
2015

31. Urogenital Abnormalities in Adenosine Deaminase Deficiency

Author

Pajno, Roberta, Pacillo, Lucia, Recupero, Salvatore, Cicalese, Maria P., Ferrua, Francesca, Barzaghi, Federica, Ricci, Silvia, Marzollo, Antonio, Pecorelli, Silvia, Azzari, Chiara, Finocchi, Andrea, Cancrini, Caterina, Di Matteo, Gigliola, Russo, Gianni, Alfano, Massimo, Lesma, Arianna, Salonia, Andrea, Adams, Stuart, Booth, Claire, and Aiuti, Alessandro

Published
2020
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32. Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome

Author

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

Published
2019
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33. X-linked agammaglobulinemia (XLA): Phenotype, diagnosis, and therapeutic challenges around the world

Author

El-Sayed, Zeinab A., Abramova, Irina, Aldave, Juan Carlos, Al-Herz, Waleed, Bezrodnik, Liliana, Boukari, Rachida, Bousfiha, Ahmed Aziz, Cancrini, Caterina, Condino-Neto, Antonio, Dbaibo, Ghassan, Derfalvi, Beata, Dogu, Figen, Edgar, J.David M., Eley, Brian, El-Owaidy, Rasha Hasan, Espinosa-Padilla, Sara Elva, Galal, Nermeen, Haerynck, Filomeen, Hanna-Wakim, Rima, Hossny, Elham, Ikinciogullari, Aydan, Kamal, Ebtihal, Kanegane, Hirokazu, Kechout, Nadia, Lau, Yu Lung, Morio, Tomohiro, Moschese, Viviana, Neves, Joao Farela, Ouederni, Monia, Paganelli, Roberto, Paris, Kenneth, Pignata, Claudio, Plebani, Alessandro, Qamar, Farah Naz, Qureshi, Sonia, Radhakrishnan, Nita, Rezaei, Nima, Rosario, Nelson, Routes, John, Sanchez, Berta, Sediva, Anna, Seppanen, Mikko RJ., Serrano, Edith Gonzalez, Shcherbina, Anna, Singh, Surjit, Siniah, Sangeetha, Spadaro, Guiseppe, Tang, Mimi, Vinet, Ana Maria, Volokha, Alla, and Sullivan, Kathleen E.

Published
2019
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34. Gastric cancer, inflammatory bowel disease and polyautoimmunity in a 17-year-old boy: CTLA-4 deficiency successfully treated with Abatacept

Author

Angelino, Giulia, Cifaldi, Cristina, Zangari, Paola, Di Cesare, Silvia, Di Matteo, Gigliola, Chiriaco, Maria, Francalanci, Paola, Faraci, Simona, Rea, Francesca, Romeo, Erminia Francesca, Amodio, Donato, Ursu, Giorgiana Madalina, Bertocchini, Arianna, Accinni, Antonella, Crocoli, Alessandro, Inserra, Alessandro, Cozza, Raffaele, Romano, Claudio, Licciardello, Maria, Rinelli, Martina, Dall’Oglio, Luigi, Cancrini, Caterina, De Angelis, Paola, and Finocchi, Andrea

Published
2021
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35. A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency

Author

Lee, Yu Nee, Frugoni, Francesco, Dobbs, Kerry, Walter, Jolan E, Giliani, Silvia, Gennery, Andrew R, Al-Herz, Waleed, Haddad, Elie, LeDeist, Francoise, Bleesing, Jack H, Henderson, Lauren A, Pai, Sung-Yun, Nelson, Robert P, El-Ghoneimy, Dalia H, El-Feky, Reem A, Reda, Shereen M, Hossny, Elham, Soler-Palacin, Pere, Fuleihan, Ramsay L, Patel, Niraj C, Massaad, Michel J, Geha, Raif S, Puck, Jennifer M, Palma, Paolo, Cancrini, Caterina, Chen, Karin, Vihinen, Mauno, Alt, Frederick W, and Notarangelo, Luigi D

Subjects
Biomedical and Clinical Sciences, Immunology, Genetics, Rare Diseases, Biotechnology, 2.1 Biological and endogenous factors, Aetiology, Inflammatory and immune system, Alleles, B-Lymphocytes, Child, Child, Preschool, Gene Order, Gene Rearrangement, Genetic Association Studies, Homeodomain Proteins, Humans, Immunoglobulin Heavy Chains, Infant, Infant, Newborn, Mutation, Phenotype, Severe Combined Immunodeficiency, T-Lymphocytes, V(D)J Recombination, Recombination-activating gene 1, V(D)J recombination, severe combined immune deficiency, Omenn syndrome, autoimmunity, genotype-phenotype correlation, immune repertoire, Allergy
Abstract

BackgroundThe recombination-activating gene (RAG) 1/2 proteins play a critical role in the development of T and B cells by initiating the VDJ recombination process that leads to generation of a broad T-cell receptor (TCR) and B-cell receptor repertoire. Pathogenic mutations in the RAG1/2 genes result in various forms of primary immunodeficiency, ranging from T(-)B(-) severe combined immune deficiency to delayed-onset disease with granuloma formation, autoimmunity, or both. It is not clear what contributes to such heterogeneity of phenotypes.ObjectiveWe sought to investigate the molecular basis for phenotypic diversity presented in patients with various RAG1 mutations.MethodsWe have developed a flow cytometry-based assay that allows analysis of RAG recombination activity based on green fluorescent protein expression and have assessed the induction of the Ighc locus rearrangements in mouse Rag1(-/-) pro-B cells reconstituted with wild-type or mutant human RAG1 (hRAG1) using deep sequencing technology.ResultsHere we demonstrate correlation between defective recombination activity of hRAG1 mutant proteins and severity of the clinical and immunologic phenotype and provide insights on the molecular mechanisms accounting for such phenotypic diversity.ConclusionsUsing a sensitive assay to measure the RAG1 activity level of 79 mutations in a physiologic setting, we demonstrate correlation between recombination activity of RAG1 mutants and the severity of clinical presentation and show that RAG1 mutants can induce specific abnormalities of the VDJ recombination process.

Published
2014

36. Risk of thyroid neoplasms in patients with 22q11.2 deletion and DiGeorge-like syndromes: an insight for follow-up

Author

Sarli, Walter Maria, primary, Ricci, Silvia, additional, Lodi, Lorenzo, additional, Cavone, Federica, additional, Pacillo, Lucia, additional, Giancotta, Carmela, additional, Ubertini, Graziamaria, additional, Baroncelli, Giampiero, additional, Cancrini, Caterina, additional, Azzari, Chiara, additional, and Stagi, Stefano, additional

Published
2023
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37. Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome

Author

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

Published
2019
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39. Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Author

Maccari, Maria Elena, primary, Wolkewitz, Martin, additional, Schwab, Charlotte, additional, Lorenzini, Tiziana, additional, Leiding, Jennifer W., additional, Aladjdi, Nathalie, additional, Abolhassani, Hassan, additional, Abou-Chahla, Wadih, additional, Aiuti, Alessandro, additional, Azarnoush, Saba, additional, Baris, Safa, additional, Barlogis, Vincent, additional, Barzaghi, Federica, additional, Baumann, Ulrich, additional, Bloomfield, Marketa, additional, Bohynikova, Nadezda, additional, Bodet, Damien, additional, Boutboul, David, additional, Bucciol, Giorgia, additional, Buckland, Matthew S., additional, Burns, Siobhan O., additional, Cancrini, Caterina, additional, Cathébras, Pascal, additional, Cavazzana, Marina, additional, Cheminant, Morgane, additional, Chinello, Matteo, additional, Ciznar, Peter, additional, Coulter, Tanya I., additional, D’Aveni, Maud, additional, Ekwall, Olov, additional, Eric, Zelimir, additional, Eren, Efrem, additional, Fasth, Anders, additional, Frange, Pierre, additional, Fournier, Benjamin, additional, Garcia-Prat, Marina, additional, Gardembas, Martine, additional, Geier, Christoph, additional, Ghosh, Sujal, additional, Goda, Vera, additional, Hammarström, Lennart, additional, Hauck, Fabian, additional, Heeg, Maximilian, additional, Heropolitanska-Pliszka, Edyta, additional, Hilfanova, Anna, additional, Jolles, Stephen, additional, Karakoc-Aydiner, Elif, additional, Kindle, Gerhard R., additional, Kiykim, Ayca, additional, Klemann, Christian, additional, Koletsi, Patra, additional, Koltan, Sylwia, additional, Kondratenko, Irina, additional, Körholz, Julia, additional, Krüger, Renate, additional, Jeziorski, Eric, additional, Levy, Romain, additional, Le Guenno, Guillaume, additional, Lefevre, Guillaume, additional, Lougaris, Vassilios, additional, Marzollo, Antonio, additional, Mahlaoui, Nizar, additional, Malphettes, Marion, additional, Meinhardt, Andrea, additional, Merlin, Etienne, additional, Meyts, Isabelle, additional, Milota, Tomas, additional, Moreira, Fernando, additional, Moshous, Despina, additional, Mukhina, Anna, additional, Neth, Olaf, additional, Neubert, Jennifer, additional, Neven, Benedicte, additional, Nieters, Alexandra, additional, Nove-Josserand, Raphaele, additional, Oksenhendler, Eric, additional, Ozen, Ahmet, additional, Olbrich, Peter, additional, Perlat, Antoinette, additional, Pac, Malgorzata, additional, Schmid, Jana Pachlopnik, additional, Pacillo, Lucia, additional, Parra-Martinez, Alba, additional, Paschenko, Olga, additional, Pellier, Isabelle, additional, Sefer, Asena Pinar, additional, Plebani, Alessandro, additional, Plantaz, Dominique, additional, Prader, Seraina, additional, Raffray, Loic, additional, Ritterbusch, Henrike, additional, Riviere, Jacques G., additional, Rivalta, Beatrice, additional, Rusch, Stephan, additional, Sakovich, Inga, additional, Savic, Sinisa, additional, Scheible, Raphael, additional, Schleinitz, Nicolas, additional, Schuetz, Catharina, additional, Schulz, Ansgar, additional, Sediva, Anna, additional, Semeraro, Michaela, additional, Sharapova, Svetlana O., additional, Shcherbina, Anna, additional, Slatter, Mary A., additional, Sogkas, Georgios, additional, Soler-Palacin, Pere, additional, Speckmann, Carsten, additional, Stephan, Jean-Louis, additional, Suarez, Felipe, additional, Tommasini, Alberto, additional, Trück, Johannes, additional, Uhlmann, Annette, additional, van Aerde, Koen J., additional, van Montfrans, Joris, additional, von Bernuth, Horst, additional, Warnatz, Klaus, additional, Williams, Tony, additional, Worth, Austen J.J., additional, Ip, Winnie, additional, Picard, Capucine, additional, Catherinot, Emilie, additional, Nademi, Zohreh, additional, Grimbacher, Bodo, additional, Forbes Satter, Lisa R., additional, Kracker, Sven, additional, Chandra, Anita, additional, Condliffe, Alison M., additional, Ehl, Stephan, additional, Seidel, Markus G., additional, Seppänen, Mikko R.J., additional, Gennery, Andrew, additional, Kanariou, Maria G., additional, Tantou, Sofia, additional, Grigoriadou, Sofia, additional, Cericola, Gabriella, additional, Hanitsch, Leif G., additional, Scheibenbogen, Carmen, additional, Hlaváčková, Eva O., additional, Krivan, Gergely, additional, McGuire, Frances K., additional, Leahy, Timothy Ronan, additional, Edgar, John David M., additional, Bakhtiar, Shahrzad, additional, Bader, Peter, additional, Rohner, Geraldine Blanchard, additional, Haerynck, Filomeen, additional, Claes, Karlien, additional, Lehmberg, Kai, additional, Müller, Ingo, additional, Farmand, Susan, additional, Fasshauer, Maria, additional, Graf, Dagmar, additional, Neves, Joao Farela, additional, Kostyuchenko, Larysa, additional, Gonzalez-Granado, Luis Ignacio, additional, Jeseňák, Miloš, additional, Carrabba, Maria, additional, Fabio, Giovanna, additional, Pignata, Claudio, additional, Giardino, Giuliana, additional, Karadağ, Ilknur Kökçü, additional, Yıldıran, Alişan, additional, Hancioglu, Gonca, additional, Králíčková, Pavlína, additional, Steinmann, Sandra, additional, Pietrucha, Barbara Maria, additional, Gernert, Michael, additional, Soomann, Maarja, additional, Witte, Torsten, additional, Markocsy, Adam, additional, Wolska-Kusnierz, Beata, additional, Randrianomenjanahary, Philippe, additional, Rouger, Jérémie, additional, Kostaridou, Stavroula, additional, Zabara, Dariia V., additional, Rodina, Yulia A., additional, and Shvets, Oksana A., additional

Published
2023
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40. Characteristics and Clinical Implications of Anti-IFN-α cytokine antibodies in partial Recombinase Activating Gene Deficiency patients before and during the COVID-19 Pandemic

Author

Gordon, Sumai, primary, Yilmaz, Melis, additional, Dasso, Joseph, additional, Cancrini, Caterina, additional, Brigatti, Karlla, additional, Strauss, Kevin, additional, Csomos, Krisztian, additional, Walter, Jolan, additional, Ujhazi, Boglarka, additional, and Licciardi, Francesco, additional

Published
2023
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41. The Wiskott-Aldrich syndrome protein is required for iNKT cell maturation and function

Author

Locci, Michela, Draghici, Elena, Marangoni, Francesco, Bosticardo, Marita, Catucci, Marco, Aiuti, Alessandro, Cancrini, Caterina, Marodi, Laszlo, Espanol, Teresa, Bredius, Robbert GM, Thrasher, Adrian J, Schulz, Ansgar, Litzman, Jiri, Roncarolo, Maria Grazia, Casorati, Giulia, Dellabona, Paolo, and Villa, Anna

Subjects
Genetics, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Inflammatory and immune system, Animals, Cytokines, Flow Cytometry, Humans, Hyaluronan Receptors, Lymphocyte Activation, Mice, Mice, Knockout, Mutation, Natural Killer T-Cells, Phenotype, Wiskott-Aldrich Syndrome, Medical and Health Sciences, Immunology
Abstract

The Wiskott-Aldrich syndrome (WAS) protein (WASp) is a regulator of actin cytoskeleton in hematopoietic cells. Mutations of the WASp gene cause WAS. Although WASp is involved in various immune cell functions, its role in invariant natural killer T (iNKT) cells has never been investigated. Defects of iNKT cells could indeed contribute to several WAS features, such as recurrent infections and high tumor incidence. We found a profound reduction of circulating iNKT cells in WAS patients, directly correlating with the severity of clinical phenotype. To better characterize iNKT cell defect in the absence of WASp, we analyzed was(-/-) mice. iNKT cell numbers were significantly reduced in the thymus and periphery of was(-/-) mice as compared with wild-type controls. Moreover analysis of was(-/-) iNKT cell maturation revealed a complete arrest at the CD44(+) NK1.1(-) intermediate stage. Notably, generation of BM chimeras demonstrated a was(-/-) iNKT cell-autonomous developmental defect. was(-/-) iNKT cells were also functionally impaired, as suggested by the reduced secretion of interleukin 4 and interferon gamma upon in vivo activation. Altogether, these results demonstrate the relevance of WASp in integrating signals critical for development and functional differentiation of iNKT cells and suggest that defects in these cells may play a role in WAS pathology.

Published
2009

42. Hematopoietic stem cell gene therapy for the cure of blood diseases: primary immunodeficiencies

Author

Cifaldi, Cristina, Ferrua, Francesca, Aiuti, Alessandro, and Cancrini, Caterina

Abstract

This report provides an overview of gene therapy use of stem cell for the treatment of primary immunodeficiencies (PIDs). Human stem cells are non-specialized cells, able to differentiate, starting from the embryo and for the whole duration of the life of each individual, into different cell types, through two types of cell division: symmetrical creating two stem cells and asymmetric differentiating to any cell lineage. These cells represented the ideal target for gene correction to guarantee production of engineered multi-lineage progeny. Their use in gene therapy led to the development of an effective treatment for PIDs, such as ADA deficiency, SCID-X1, WAS, CGD, and providing potential long-term clinical benefit for affected patients.

Published
2024
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43. The case of an APDS patient: Defects in maturation and function and decreased in vitro anti-mycobacterial activity in the myeloid compartment

Author

Chiriaco, Maria, Brigida, Immacolata, Ariganello, Paola, Di Cesare, Silvia, Di Matteo, Gigliola, Taus, Francesco, Cittaro, Davide, Lazarevic, Dejan, Scarselli, Alessia, Santilli, Veronica, Attardi, Enrico, Stupka, Elia, Giannelli, Stefania, Fraziano, Maurizio, Finocchi, Andrea, Rossi, Paolo, Aiuti, Alessandro, Palma, Paolo, and Cancrini, Caterina

Published
2017
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44. Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study

Author

Coulter, Tanya I., Chandra, Anita, Bacon, Chris M., Babar, Judith, Curtis, James, Screaton, Nick, Goodlad, John R., Farmer, George, Steele, Cathal Laurence, Leahy, Timothy Ronan, Doffinger, Rainer, Baxendale, Helen, Bernatoniene, Jolanta, Edgar, J. David M., Longhurst, Hilary J., Ehl, Stephan, Speckmann, Carsten, Grimbacher, Bodo, Sediva, Anna, Milota, Tomas, Faust, Saul N., Williams, Anthony P., Hayman, Grant, Kucuk, Zeynep Yesim, Hague, Rosie, French, Paul, Brooker, Richard, Forsyth, Peter, Herriot, Richard, Cancrini, Caterina, Palma, Paolo, Ariganello, Paola, Conlon, Niall, Feighery, Conleth, Gavin, Patrick J., Jones, Alison, Imai, Kohsuke, Ibrahim, Mohammad A.A., Markelj, Gašper, Abinun, Mario, Rieux-Laucat, Frédéric, Latour, Sylvain, Pellier, Isabelle, Fischer, Alain, Touzot, Fabien, Casanova, Jean-Laurent, Durandy, Anne, Burns, Siobhan O., Savic, Sinisa, Kumararatne, D.S., Moshous, Despina, Kracker, Sven, Vanhaesebroeck, Bart, Okkenhaug, Klaus, Picard, Capucine, Nejentsev, Sergey, Condliffe, Alison M., and Cant, Andrew James

Published
2017
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46. Activated Phosphoinositide 3-Kinase δ Syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity

Author

Maccari, Maria Elena, Wolkewitz, Martin, Schwab, Charlotte, Lorenzini, Tiziana, Leiding, Jennifer W, Aladjdi, Nathalie, Abolhassani, Hassan, Abou-Chahla, Wadih, Aiuti, Alessandro, Azarnoush, Saba, Baris, Safa, Barlogis, Vincent, Barzaghi, Federica, Baumann, Ulrich, Bloomfield, Marketa, Bohynikova, Nadezda, Bodet, Damien, Boutboul, David, Bucciol, Giorgia, Buckland, Matthew S, Burns, Siobhan O, Cancrini, Caterina, Cathébras, Pascal, Cavazzana, Marina, Cheminant, Morgane, Chinello, Matteo, Ciznar, Peter, Coulter, Tanya I, D’Aveni, Maud, Ekwall, Olov, et al, Pachlopnik Schmid, Jana, Prader, Seraina, and University of Zurich

Subjects
10036 Medical Clinic, Immunology, Immunology and Allergy, 610 Medicine & health
Published
2023

49. Tailored treatments in inborn errors of immunity associated with atopy (IEIs-A) with skin involvement

Author

Giancotta, Carmela, primary, Colantoni, Nicole, additional, Pacillo, Lucia, additional, Santilli, Veronica, additional, Amodio, Donato, additional, Manno, Emma Concetta, additional, Cotugno, Nicola, additional, Rotulo, Gioacchino Andrea, additional, Rivalta, Beatrice, additional, Finocchi, Andrea, additional, Cancrini, Caterina, additional, Diociaiuti, Andrea, additional, El Hachem, May, additional, and Zangari, Paola, additional

Published
2023
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50. How CD4+ T Cells Transcriptional Profile Is Affected by Culture Conditions: Towards the Design of Optimal In Vitro HIV Reactivation Assays

Author

Pascucci, Giuseppe Rubens, primary, Morrocchi, Elena, additional, Pighi, Chiara, additional, Rotili, Arianna, additional, Neri, Alessia, additional, Medri, Chiara, additional, Olivieri, Giulio, additional, Sanna, Marco, additional, Rasi, Gianmarco, additional, Persaud, Deborah, additional, Chahroudi, Ann, additional, Lichterfeld, Mathias, additional, Nastouli, Eleni, additional, Cancrini, Caterina, additional, Amodio, Donato, additional, Rossi, Paolo, additional, Cotugno, Nicola, additional, and Palma, Paolo, additional

Published
2023
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