A systematic review and meta-analysis of GFAP gene variants in Alexander disease von Grossi, Alice, Rosamilia, Francesca, Carestiato, Silvia, Salsano, Ettore, Ceccherini, Isabella, Bachetti, Tiziana

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Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases von Rusmini, Marta, Federici, Silvia, Caroli, Francesco, Grossi, Alice, Baldi, Maurizia, Obici, Laura, Insalaco, Antonella, Tommasini, Alberto, Caorsi, Roberta, Gallo, Eleonora, Olivieri, Alma Nunzia, Marzano, AngeloValerio, Coviello, Domenico, Ravazzolo, Roberto, Martini, Alberto, Gattorno, Marco, Ceccherini, Isabella

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Infection risk in patients with autoimmune cytopenias and immune dysregulation treated with mycophenolate mofetil and sirolimus von Comella, Mattia, Palmisani, Elena, Mariani, Marcello, Dell'Orso, Gianluca, Licciardello, Maria, Giarratana, Maria Carla, Arcuri, Luca, Pestarino, Sara, Grossi, Alice, Lanciotti, Marina, Brucci, Giorgia, Guardo, Daniela, Russo, Giovanna, Dufour, Carlo, Fioredda, Francesca, Castagnola, Elio, Miano, Maurizio

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Corrigendum: Parental Somatic Mosaicism Uncovers Inheritance of an Apparently De Novo GFAP Mutation von Grossi, Alice, Morelli, Federico, Di Duca, Marco, Caroli, Francesco, Moroni, Isabella, Tonduti, Davide, Bachetti, Tiziana, Ceccherini, Isabella

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Underlying Inborn Errors of Immunity in Patients With Evans Syndrome and Multilineage Cytopenias: A Single-Centre Analysis von Miano, Maurizio, Guardo, Daniela, Grossi, Alice, Palmisani, Elena, Fioredda, Francesca, Terranova, Paola, Cappelli, Enrico, Lupia, Michela, Traverso, Monica, Dell'Orso, Gianluca, Corsolini, Fabio, Beccaria, Andrea, Lanciotti, Marina, Ceccherini, Isabella, Dufour, Carlo

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A case report of a novel compound heterozygous mutation in a Brazilian patient with deficiency of Interleukin-1 receptor antagonist (DIRA) von Mendonca, Leonardo Oliveira, Grossi, Alice, Caroli, Francesco, de Oliveira, Robson Aguiar, Kalil, Jorge, Castro, Fabio Fernandes Morato, Pontillo, Alessandra, Ceccherini, Isabella, Barros, Myrthes Anna Maragna Toledo, Gattorno, Marco

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CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever von Caorsi, Roberta, Rusmini, Marta, Volpi, Stefano, Chiesa, Sabrina, Pastorino, Claudia, Sementa, Angela Rita, Uva, Paolo, Grossi, Alice, Lanino, Edoardo, Faraci, Maura, Minoia, Francesca, Signa, Sara, Picco, Paolo, Martini, Alberto, Ceccherini, Isabella, Gattorno, Marco

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PB2052: THE HEMATOLOGICAL SIDE OF TNFRSF13B/TACI: A MONOCENTRIC EXPERIENCE von Beccaria, Andrea, Lanciotti, Marina, Giarratana, Maria Carla, Palmisani, Elena, Ceccherini, Isabella, Grossi, Alice, Caorsi, Roberta, Gattorno, Marco, Terranova, Paola, Lupia, Michela, Coviello, Domenico, Maffei, Massimo, Zanardi, Sabrina, Miano, Maurizio, Dufour, Carlo, Fioredda, Francesca

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P791: WHOLE EXOME SEQUENCING IN ADULT PATIENTS WITH CHRONIC IDIOPATHIC NEUTROPENIA von Grossi, Alice, Tsaknakis, Grigorios, Rusmini, Marta, Ceccherini, Isabella, Uva, Paolo, Miano, Maurizio, Mavroudi, Irene, Boutakoglou, Erasmia, Dufour, Carlo, Fioredda, Francesca, Papadaki, Helen

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Seropositive polyarthritis and diffuse lymphadenopathy associated with PRKCD mutation von Papa, Riccardo, Schena, Francesca, Corcione, Anna, Bocca, Paola, Drago, Enrico, Malattia, Clara, Grossi, Alice, Ceccherini, Isabella, Gattorno, Marco

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Majeed syndrome: first description in a patient of central-European ancestry von Drago, Enrico, Bertoni, Arinna, Grossi, Alice, Damasio, Maria Beatrice, Anfigeno, Lorenzo, Miano, Maurizio, Papa, Riccardo, Volpi, Stefano, Ceccherini, Isabella, Gattorno, Marco, Caorsi, Roberta

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Collapsing Glomerulopathy as a Complication of Type I Interferon–Mediated Glomerulopathy in a Patient With RNASEH2B-Related Aicardi-Goutières Syndrome von Fenaroli, Paride, Rossi, Giovanni M., Angelotti, Maria Lucia, Antonelli, Giulia, Volpi, Stefano, Grossi, Alice, Delsante, Marco, Lodi, Lorenzo, Landini, Samuela, Romagnani, Paola, Vaglio, Augusto

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Heterogeneous Genetic Landscape of Chronic Idiopathic Neutropenia Revealed By Whole Exome Sequencing von Tsaknakis, Grigorios, Grossi, Alice, Rusmini, Marta, Ceccherini, Isabella, Uva, Paolo, Miano, Maurizio, Mavroudi, Irene, Boutakoglou, Erasmia, Dufour, Carlo, Fioredda, Francesca, Papadaki, Helen A.

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Clinical and immunological prophyle of long lasting and late onset neutropenia: beyond primary autoimmune and idiopathic neutropenia von Beccaria, Andrea, Casartelli, Pietro, Bagnasco, Francesca, Lanciotti, Marina, Terranova, Paola, Grossi, Alice, Ceccherini, Isabella, Miano, Maurizio, Dufour, Carlo, Fioredda, Francesca

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Association of Pyoderma Gangrenosum, Acne, and Suppurative Hidradenitis (PASH) Shares Genetic and Cytokine Profiles With Other Autoinflammatory Diseases von Marzano, Angelo V., Ceccherini, Isabella, Gattorno, Marco, Fanoni, Daniele, Caroli, Francesco, Rusmini, Marta, Grossi, Alice, De Simone, Clara, Borghi, Orietta M., Meroni, Pier Luigi, Crosti, Carlo, Cugno, Massimo

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140 Late Onset and Long Lasting Neutropenias: preliminary data on WES analysis von Fioredda, Francesca, Grossi, Alice, Beccaria, Andrea, Giarratana, MariaCarla, Miano, Maurizio, Lanciotti, Marina, Tsaknakis, Grigorios, Zanardi, Sabrina, Papadaki, Helen, Ceccherini, Isabella, Dufour, Carlo

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12 Infection risk in a cohort of patients with Autoimmune Cytopenias and Primary Immuno-Regulatory Disorders treated with mycophenolate mofetil and sirolimus von Miano, Maurizio, Comella, Mattia, Palmisani, Elena, Mariani, Marcello, Dell’Orso, Gianluca, Arcuri, Luca, Giarratana, Maria Carla, Pestarino, Sara, Grossi, Alice, Lanciotti, Marina, Licciardello, Maria, Brucci, Giorgia, Russo, Giovanna, Dufour, Carlo, Castagnola, Elio, Fioredda, Francesca

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TACI variants as underlying condition in autoimmune neutropenia: Description of four cases von Fioredda, Francesca, Beccaria, Andrea, Turrini, Elena, Casartelli, Pietro, Coviello, Domenico, Maffei, Massimo, Lanciotti, Marina, Lupia, Michela, Terranova, Paola, Grossi, Alice, Ceccherini, Isabella, Miano, Maurizio, Dufour, Carlo

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FAS‐mediated apoptosis impairment in patients with ALPS/ALPS‐like phenotype carrying variants on CASP10 gene von Miano, Maurizio, Cappelli, Enrico, Pezzulla, Agnese, Venè, Roberta, Grossi, Alice, Terranova, Paola, Palmisani, Elena, Maggiore, Rosario, Guardo, Daniela, Lanza, Tiziana, Calvillo, Michaela, Micalizzi, Concetta, Pierri, Filomena, Vernarecci, Chiara, Beccaria, Andrea, Corsolini, Fabio, Lanciotti, Marina, Russo, Giovanna, Ceccherini, Isabella, Dufour, Carlo, Fioredda, Francesca

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Genetic screening of children with marrow failure. The role of primary Immunodeficiencies von Miano, Maurizio, Grossi, Alice, Dell'Orso, Gianluca, Lanciotti, Marina, Fioredda, Francesca, Palmisani, Elena, Lanza, Tiziana, Guardo, Daniela, Beccaria, Andrea, Ravera, Silvia, Cossu, Vanessa, Terranova, Paola, Giona, Fiorina, Santopietro, Michelina, Cappelli, Enrico, Ceccherini, Isabella, Dufour, Carlo

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