PAPA and FMF in two siblings: possible amplification of clinical presentation? A case report by Maria Cristina Maggio, Isabella Ceccherini, Alice Grossi, Marco Gattorno, Giovanni Corsello

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A Focus on Regulatory Networks Linking MicroRNAs, Transcription Factors and Target Genes in Neuroblastoma by Patrizia Perri, Mirco Ponzoni, Maria Valeria Corrias, Isabella Ceccherini, Simona Candiani, Tiziana Bachetti

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Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndr... by Simona Di Lascio, Tiziana Bachetti, Elena Saba, Isabella Ceccherini, Roberta Benfante, Diego Fornasari

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The Impact of Experimental Conditions on Cell Mechanics as Measured with Nanoindentation by Martina Zambito, Federica Viti, Alessia G. Bosio, Isabella Ceccherini, Tullio Florio, Massimo Vassalli

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LPIN2 gene mutation in a patient with overlapping neutrophilic disease (pyoderma gangrenosum and aseptic abscess syndrome) by Angelo V. Marzano, MD, Alex G. Ortega-Loayza, MD, Isabella Ceccherini, PhD, Massimo Cugno, MD

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

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Exploration of Tools for the Interpretation of Human Non-Coding Variants by Nicole Tabarini, Elena Biagi, Paolo Uva, Emanuela Iovino, Tommaso Pippucci, Marco Seri, Andrea Cavalli, Isabella Ceccherini, Marta Rusmini, Federica Viti

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

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Beneficial Effect of Phenytoin and Carbamazepine on GFAP Gene Expression and Mutant GFAP Folding in a Cellular Model of Alexander’s Disease by Tiziana Bachetti, Tiziana Bachetti, Eleonora Di Zanni, Annalisa Adamo, Francesca Rosamilia, M. Margherita Sechi, Paolo Solla, Matteo Bozzo, Isabella Ceccherini, GianPietro Sechi

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Alexander Disease Modeling in Zebrafish: An In Vivo System Suitable to Perform Drug Screening by Simona Candiani, Silvia Carestiato, Andreas F. Mack, Daniele Bani, Matteo Bozzo, Valentina Obino, Michela Ori, Francesca Rosamilia, Miriam De Sarlo, Mario Pestarino, Isabella Ceccherini, Tiziana Bachetti

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The Genetic Landscape of Patent Foramen Ovale: A Systematic Review by Matteo Paolucci, Chiara Vincenzi, Michele Romoli, Giulia Amico, Isabella Ceccherini, Simona Lattanzi, Anna Bersano, Marco Longoni, Simona Sacco, Fabrizio Vernieri, Rosario Pascarella, Franco Valzania, Marialuisa Zedde

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Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease by Francesca Lantieri, Stefania Gimelli, Chiara Viaggi, Elissavet Stathaki, Michela Malacarne, Giuseppe Santamaria, Alice Grossi, Manuela Mosconi, Frédérique Sloan-Béna, Alessio Pini Prato, Domenico Coviello, Isabella Ceccherini

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Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients by Alice Grossi, Maurizio Miano, Marina Lanciotti, Francesca Fioredda, Daniela Guardo, Elena Palmisani, Paola Terranova, Giuseppe Santamaria, Francesco Caroli, Roberta Caorsi, Stefano Volpi, Marco Gattorno, Carlo Dufour, Isabella Ceccherini

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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) by Leonardo Oliveira Mendonça, Alice Grossi, Francesco Caroli, Robson Aguiar de Oliveira, Jorge Kalil, Fabio Fernandes Morato Castro, Alessandra Pontillo, Isabella Ceccherini, Myrthes Anna Maragna Toledo Barros, Marco Gattorno

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Kidney Involvement in PSTPIP1 Associated Inflammatory Diseases (PAID): A Case Report and Review of the Literature by Paola Borgia, Riccardo Papa, Riccardo Papa, Matteo D'Alessandro, Matteo D'Alessandro, Roberta Caorsi, Giorgio Piaggio, Andrea Angeletti, Andrea Angeletti, Isabella Ceccherini, Gian Marco Ghiggeri, Gian Marco Ghiggeri, Marco Gattorno

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Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying a <i>TINF2</i> Variant by Benedetta Chianucci, Alice Grossi, Gianluca Dell'Orso, Elena Palmisani, Marina Lanciotti, Paola Terranova, Filomena Pierri, Michela Lupia, Luca Arcuri, Marica Laurino, Isabella Ceccherini, Fabian Beier, Carlo Dufour, Francesca Fioredda, Maurizio Miano

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

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Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic <i>TREX1</i> Missense Variants Affecting the Catalytic Core by Giulia Amico, Wayne O. Hemphill, Mariasavina Severino, Claudio Moratti, Rosario Pascarella, Marta Bertamino, Flavia Napoli, Stefano Volpi, Francesca Rosamilia, Sara Signa, Fred Perrino, Marialuisa Zedde, Isabella Ceccherini, on behalf of the Gaslini Stroke Study Group

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Case Report: Deficiency of Adenosine Deaminase 2 Presenting With Overlapping Features of Autoimmune Lymphoproliferative Syndrome and Bone Marrow Failure by Gianluca Dell’Orso, Alice Grossi, Federica Penco, Roberta Caorsi, Elena Palmisani, Paola Terranova, Francesca Schena, Michela Lupia, Erica Ricci, Shana Montalto, Filomena Pierri, Isabella Ceccherini, Francesca Fioredda, Carlo Dufour, Marco Gattorno, Maurizio Miano

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

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