Issue 2/2024
Content (19 Articles)
“Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease
Sam J. Olyha, Shannon K. O’Connor, Marat Kribis, Molly L. Bucklin, Dinesh Babu Uthaya Kumar, Paul M. Tyler, Faiad Alam, Kate M. Jones, Hassan Sheikha, Liza Konnikova, Saquib A. Lakhani, Ruth R. Montgomery, Jason Catanzaro, Hongqiang Du, Daniel V. DiGiacomo, Holly Rothermel, Christopher J. Moran, Karoline Fiedler, Neil Warner, Esther P.A.H. Hoppenreijs, Caspar I. van der Made, Alexander Hoischen, Peter Olbrich, Olaf Neth, Alejandro Rodríguez-Martínez, José Manuel Lucena Soto, Annemarie M.C. van Rossum, Virgil A.S.H. Dalm, Aleixo M. Muise, Carrie L. Lucas
Evaluation of Genetic or Cellular Impairments in Type I IFN Immunity in a Cohort of Young Adults with Critical COVID-19
L. E. Covill, A. Sendel, T. M. Campbell, I. Piiroinen, S. Lind Enoksson, E. Wahren Borgström, S. Hansen, K. Ma, P. Marits, A. C. Norlin, C. I. E. Smith, J. Kåhlin, L. I. Eriksson, P. Bergman, Y. T. Bryceson
High Prevalence of Long COVID in Common Variable Immunodeficiency: An Italian Multicentric Study
Annalisa Villa, Cinzia Milito, Carla Maria Deiana, Renato Finco Gambier, Alessandra Punziano, Helena Buso, Patrick Bez, Gianluca Lagnese, Giulia Garzi, Giulia Costanzo, Gloria Giannuzzi, Chiara Pagnozzi, Virgil A. S. H. Dalm, Giuseppe Spadaro, Marcello Rattazzi, Francesco Cinetto, Davide Firinu
Pediatric Pancytopenia and Monosomy 7: A Case Report of SAMD9L-Associated Disease
Vaishnavi V. Iyengar, Akshaya Chougule, Vijaya Gowri, Prasad Taur, Minnie Bodhanwala, Mukesh M. Desai
Novel Pathogenic C5 Gene Variants in a Patient with Neisseria Meningitis and Diffuse Cutaneous HSV-1 Infection
W. Grant Day, Christian Horn, Jacob S. Hogue, Jared Magee, Shahrooz Shayegan, Luke Pittman
A Rare AIOLOS N160S Variant Causing IEI in Human
Öner Özdemir, Ümmügülsüm Dikici, Murat Hakkı Yarar, Motoi Yamashita, Tomohiro Morio
Epidermodysplasia Verruciformis in CADINS Disease: Expanding the Phenotype
Ridhima Aggarwal, Alison R. Spratt, Sumit Goel, Vinay Keshavamurthy, Aravind Sekar, Amit Rawat, Andrew L. Snow, Pandiarajan Vignesh
Management of Atopy with Dupilumab and Omalizumab in CADINS Disease
Natalie M. Diaz-Cabrera, Bradly M. Bauman, Mildred A. Iro, Gina Dabbah-Krancher, Vered Molho-Pessach, Abraham Zlotogorski, Oded Shamriz, Yael Dinur-Schejter, Tatyana Dubnikov Sharon, Polina Stepensky, Yuval Tal, Eli M. Eisenstein, Leonora Pietzsch, Catharina Schuetz, Damien Abreu, Carrie C. Coughlin, Megan A. Cooper, Joshua D. Milner, Anthony Williams, Gil Armoni-Weiss, Andrew L. Snow, Jennifer W. Leiding
The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase
Emma Coppola, Mayla Sgrulletti, Manuela Cortesi, Roberta Romano, Emilia Cirillo, Giuliana Giardino, Laura Dotta, Caterina Cancrini, Dario Bruzzese, Raffaele Badolato, Viviana Moschese, Claudio Pignata, Aiuti Alessandro, Donato Amodio, Chiara Azzari, Clementina Canessa, Roberta Caorsi, Riccardo Castagnoli, Maria Pia Cicalese, Francesca Conti, Rita Consolini, Rosa Maria Dellepiane, Andrea Finocchi, Vera Gallo, Marco Gattorno, Simona Graziani, Francesca Lippi, Vassilios Lougaris, Baldassarre Martire, Andrea Matucci, Antonio Marzollo, Cinzia Milito, Davide Montin, Giorgio Ottaviano, Paolo Palma, Giuseppe Patuzzo, Andrea Pession, Maria Cristina Pietrogrande, Alessandro Plebani, Isabella Quinti, Silvia Ricci, Francesco Saettini, Annarosa Soresina, Giuseppe Spadaro, Alberto Tommasini, Nino Trizzino, Stefano Volpi, Alessandra Vultaggio, Fiammetta Zunica
Autoantibody-Mediated Depletion of IL-1RA in Still’s Disease and Potential Impact of IL-1 Targeting Therapies
Marie-Christin Hoffmann, Giulio Cavalli, Natalie Fadle, Eleonora Cantoni, Evi Regitz, Octavian Fleser, Philipp Klemm, Marina Zaks, Elisabeth Stöger, Corrado Campochiaro, Alessandro Tomelleri, Elena Baldissera, Jörg Thomas Bittenbring, Vincent Zimmer, Jochen Pfeifer, Yvan Fischer, Klaus-Dieter Preuss, Moritz Bewarder, Bernhard Thurner, Sabrina Fuehner, Dirk Foell, Lorenzo Dagna, Christoph Kessel, Lorenz Thurner
Patient-Reported Outcomes and Medical Provider Satisfaction Among Adult and Pediatric Ataxia-Telangiectasia Patients
Nadine Kridli, Julie Sturza, Thomas F. Michniacki
Pyrin Inflammasome Activation Defines Colchicine-Responsive SURF Patients from FMF and Other Recurrent Fevers
Serena Palmeri, Federica Penco, Arinna Bertoni, Marta Bustaffa, Caterina Matucci-Cerinic, Riccardo Papa, Enrico Drago, Roberta Caorsi, Anna Corcione, Paola Bocca, Cristina Scarone, Anna Rubartelli, Stefano Volpi, Marco Gattorno, Ignazia Prigione
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers
Priya K. Patel, Michell Lozano Chinga, Melis Yilmaz, Sonia Joychan, Boglarka Ujhazi, Maryssa Ellison, Sumai Gordon, Daime Nieves, Krisztian Csomos, Don Eslin, Zeinab A. Afify, Jessica Meznarich, John Bohnsack, Kelly Walkovich, Markus G. Seidel, Svetlana Sharapova, Oksana Boyarchyk, Elena Latysheva, Irina Tuzankina, Ahmad B. Shaker, Irmel Ayala, Panida Sriaroon, Emma Westermann-Clark, Jolan E. Walter
Influence of Splenomegaly and Splenectomy on the Immune Cell Profile of Patients with Common Variable Immunodeficiency Disease
Jean-François Viallard, Marie Parrens, Patrick Blanco, Jean-François Moreau, Eric Oksenhendler, Claire Fieschi
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency
Marina Garcia-Prat, Laura Batlle-Masó, Alba Parra-Martínez, Clara Franco-Jarava, Mónica Martinez-Gallo, Aina Aguiló-Cucurull, Janire Perurena-Prieto, Neus Castells, Blanca Urban, Romina Dieli-Crimi, Pere Soler-Palacín, Roger Colobran
A Novel Homozygous Germline Mutation in Transferrin Receptor 1 (TfR1) Leads to Combined Immunodeficiency and Provides New Insights into Iron-Immunity Axis
Ümran Aba, İbrahim Cemal Maslak, Canberk İpşir, Damla Pehlivan, Nicholas I. Warnock, Damon J. Tumes, Gökhan Cildir, Baran Erman
Impaired STING Activation Due to a Variant in the E3 Ubiquitin Ligase AMFR in a Patient with Severe VZV Infection and Hemophagocytic Lymphohistiocytosis
Michelle Mølgaard Thomsen, Morten Kelder Skouboe, Michelle Møhlenberg, Jian Zhao, Kerstin de Keukeleere, Johanna Laura Heinz, Marvin Werner, Anne Kruse Hollensen, Jonas Lønskov, Ian Nielsen, Madalina Elena Carter-Timofte, Baocun Zhang, Jacob Giehm Mikkelsen, Niels Fisker, Søren R. Paludan, Kristian Assing, Trine H. Mogensen
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease
Clémence David, Mihaly Badonyi, Robin Kechiche, Antonella Insalaco, Marco Zecca, Fabrizio De Benedetti, Simona Orcesi, Luisa Chiapparini, Patrizia Comoli, Silvia Federici, Marco Gattorno, Monia Ginevrino, Elisa Giorgio, Valentina Matteo, Patricia Moran-Alvarez, Davide Politano, Giusi Prencipe, Fabio Sirchia, Stefano Volpi, Cécile Masson, Gillian I. Rice, Marie-Louise Frémond, Alice Lepelley, Joseph A. Marsh, Yanick J. Crow
Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
Peter J. Mustillo, Kathleen E. Sullivan, Ivan K. Chinn, Luigi D. Notarangelo, Elie Haddad, E. Graham Davies, Maria Teresa de la Morena, Nicholas Hartog, Joyce E. Yu, Vivian P. Hernandez-Trujillo, Winnie Ip, Jose Franco, Eleonora Gambineri, Scott E. Hickey, Elizabeth Varga, M. Louise Markert