Zobrazeno 1 - 10
of 254
pro vyhledávání: '"Claudio, Pignata"'
Autor:
Vassilios Lougaris, Federico Le Piane, Caterina Cancrini, Francesca Conti, Alberto Tommasini, Raffaele Badolato, Antonino Trizzino, Marco Zecca, Antonio De Rosa, Federica Barzaghi, Claudio Pignata
Publikováno v:
Italian Journal of Pediatrics, Vol 50, Iss 1, Pp 1-11 (2024)
Abstract Activated phosphoinositide 3-kinase (PI3Kδ) Syndrome (APDS) is an inborn error of immunity (IEI) with a variable clinical presentation, characterized by infection susceptibility and immune dysregulation that may overlaps with other Primary
Externí odkaz:
https://doaj.org/article/c3a720bfdd824b72a325d875a42d7813
Autor:
Emilia Cirillo, Antonietta Tarallo, Elisabetta Toriello, Annamaria Carissimo, Giuliana Giardino, Antonio De Rosa, Carla Damiano, Annarosa Soresina, Raffaele Badolato, Rosa Maria Dellepiane, Lucia A. Baselli, Maria Carrabba, Giovanna Fabio, Patrizia Bertolini, Davide Montin, Francesca Conti, Roberta Romano, Elisa Pozzi, Giulio Ferrero, Roberta Roncarati, Manuela Ferracin, Alfredo Brusco, Giancarlo Parenti, Claudio Pignata
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
IntroductionAtaxia telangiectasia (AT) is a rare disorder characterized by neurodegeneration, combined immunodeficiency, a predisposition to malignancies, and high clinical variability. Profiling of microRNAs (miRNAs) may offer insights into the unde
Externí odkaz:
https://doaj.org/article/fcaa1e5e99644d8590fe1280ba7fae17
Autor:
Vincenzo Lullo, Francesco Cecere, Saveria Batti, Sara Allegretti, Barbara Morone, Salvatore Fioriniello, Laura Pisapia, Rita Genesio, Floriana Della Ragione, Giuliana Giardino, Claudio Pignata, Andrea Riccio, Maria R. Matarazzo, Maria Strazzullo
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Immunodeficiency, Centromeric instability and Facial anomalies (ICF) syndrome is a rare genetic disorder characterized by variable immunodeficiency. More than half of the affected individuals show mild to severe intellectual disability at early onset
Externí odkaz:
https://doaj.org/article/06bcb3c13e8947dca29250e08ac5928d
Autor:
Giuliana Giardino, Vittoria Lanni, Massimo Mascolo, Daniela Russo, Emilia Cirillo, Roberta Romano, Francesca Cillo, Laura Grilli, Maria Rosaria Prencipe, Adriana Iuliano, Giovanni Uccello, Carmela De Fusco, Giuseppe Menna, Giulia Scalia, Giuseppe Portella, Claudio Pignata
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Background and aimsX lymphoproliferative syndrome type 1 (XLP1) is a rare inborn error of immunity due to mutations of SH2D1A, encoding for slam-associated protein (SAP). The clinical phenotype includes severe mononucleosis, hemophagocytic lymphohist
Externí odkaz:
https://doaj.org/article/6e8967a65b66401389c00044eccb0d79
Autor:
Renata Neves, Blanca De Dios Perez, Rafal Panek, Sumit Jagani, Sophie Wilne, Jayesh M. Bhatt, Caterina Caputi, Emilia Cirillo, David J. Coman, Gregor Dückers, Donald L. Gilbert, Mary Kay Koenig, Lobna Mansour, Elizabeth McDermott, Micaela Pauni, Claudio Pignata, Susan L. Perlman, Oscar Porras, Mariela Betina Porto, Katherine Schon, Pere Soler‐Palacin, Sam Nick Russo, Masatoshi Takagi, Marc Tischkowitz, Claire Wainwright, Madhumita Dandapani, Cristine Glazebrook, Mohnish Suri, William P. Whitehouse, Robert A. Dineen
Publikováno v:
Cancer Medicine, Vol 12, Iss 13, Pp 14663-14673 (2023)
Abstract Background/Objectives Ataxia telangiectasia (A‐T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A
Externí odkaz:
https://doaj.org/article/4112859666704ce9a8573dfbcefab340
Autor:
Maria Carrabba, Rosa Maria Dellepiane, Manuela Cortesi, Lucia Augusta Baselli, Annarosa Soresina, Emilia Cirillo, Giuliana Giardino, Francesca Conti, Laura Dotta, Andrea Finocchi, Caterina Cancrini, Cinzia Milito, Lucia Pacillo, Bianca Laura Cinicola, Fausto Cossu, Rita Consolini, Davide Montin, Isabella Quinti, Andrea Pession, Giovanna Fabio, Claudio Pignata, Maria Cristina Pietrogrande, Raffaele Badolato
Publikováno v:
Allergy, Asthma & Clinical Immunology, Vol 19, Iss 1, Pp 1-12 (2023)
Abstract Job’s syndrome, or autosomal dominant hyperimmunoglobulin E syndrome (AD-HIES, STAT3-Dominant Negative), is a rare inborn error of immunity (IEI) with multi-organ involvement and long-life post-infective damage. Longitudinal registries are
Externí odkaz:
https://doaj.org/article/e562c8d325804325ab0a1eb01d5a36b2
Autor:
Samuele Roncareggi, Katia Girardi, Francesca Fioredda, Lucia Pedace, Luca Arcuri, Raffaele Badolato, Sonia Bonanomi, Erika Borlenghi, Emilia Cirillo, Tiziana Coliva, Filippo Consonni, Francesca Conti, Piero Farruggia, Eleonora Gambineri, Fabiola Guerra, Gaia Mancuso, Antonio Marzollo, Riccardo Masetti, Concetta Micalizzi, Daniela Onofrillo, Claudio Pignata, Valeria Santini, Francesca Vendemini, Andrea Biondi, Francesco Saettini
Publikováno v:
EJC Paediatric Oncology, Vol 2, Iss , Pp 100057- (2023)
Externí odkaz:
https://doaj.org/article/52010328d3e042c2842062ff7b1de744
Autor:
Emma Coppola, Giuliana Giardino, Massimo Abate, Francesco Paolo Tambaro, Delfina Bifano, Elisabetta Toriello, Antonio De Rosa, Francesca Cillo, Claudio Pignata, Emilia Cirillo
Publikováno v:
Frontiers in Immunology, Vol 14 (2023)
Background and aimsWiskott–Aldrich syndrome (WAS) is an X-linked recessive primary immunodeficiency disorder characterized by severe eczema, recurrent infections, and micro-thrombocytopenia. Allogeneic hematopoietic stem cell transplantation (HSCT)
Externí odkaz:
https://doaj.org/article/bc027539082b4e469e92b6e1e9195be2
Autor:
Lucia Pacillo, Giuliana Giardino, Donato Amodio, Carmela Giancotta, Beatrice Rivalta, Gioacchino Andrea Rotulo, Emma Concetta Manno, Cristina Cifaldi, Giuseppe Palumbo, Claudio Pignata, Paolo Palma, Paolo Rossi, Andrea Finocchi, Caterina Cancrini
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Primary Immunodeficiencies (PID) are a group of rare congenital disorders of the immune system. Autoimmune cytopenia (AIC) represents the most common autoimmune manifestation in PID patients. Treatment of AIC in PID patients can be really challenging
Externí odkaz:
https://doaj.org/article/ff47c9012e424b798480cbddb56fab44
Autor:
Zeinab A. El-Sayed, MD, PhD, Dalia H. El-Ghoneimy, MD, PhD, José A. Ortega-Martell, MD, Nesrine Radwan, MD, PhD, Juan C. Aldave, MD, Waleed Al-Herz, MD, Maryam A. Al-Nesf, MD, ABHS, Antonio Condino-Neto, MD, PhD, Theresa Cole, MD, PhD, Brian Eley, MD, Nahla H.H. Erwa, DipRCPATH, Sara Espinosa-Padilla, PhD, Emilia Faria, MD, Nelson A. Rosario Filho, MD, PhD, Ramsay Fuleihan, MD, Nermeen Galal, MD, PhD, Elizabeth Garabedian, RN, MSLS, Mary Hintermeyer, BN, Kohsuke Imai, MD, PhD, Carla Irani, MD, MSCE, Ebtihal Kamal, MD, Nadia Kechout, MD, PhD, Adam Klocperk, MD, PhD, Michael Levin, MD, PhD, Tomas Milota, MD, PhD, Monia Ouederni, MD, Roberto Paganelli, MD, Claudio Pignata, MD, PhD, Farah N. Qamar, MBBS, FCPS, MSc, DHPE, FRCP, Isabella Quinti, MD, PhD, Sonia Qureshi, MBBS, FCPS, MSc, Nita Radhakrishnan, MD, PhD, Nima Rezaei, MD, PhD, John Routes, MD, PhD, Surjit Singh, MD, DCH (Lon.), FRCP (Lon.), FRCPCH (Lon.), FAMS, Sangeetha Siniah, MBBS, MRCPCH, Intisar Abdel-Hakam Taha, MD, SMSB, Luciana K. Tanno, MD, Ph.D, Ben Van Dort, BN, Alla Volokha, MD, PhD, DSc, Kathleen Sullivan, MD, PhD
Publikováno v:
World Allergy Organization Journal, Vol 15, Iss 6, Pp 100657- (2022)
Background: Allergies have long been observed in Inborn Errors of Immunity (IEI) and might even be the first presentation resulting in delayed diagnosis or misdiagnosis in some cases. However, data on the prevalence of allergic diseases among IEI pat
Externí odkaz:
https://doaj.org/article/cbea81132ac24929970ce980edc95b03