Open Access
14.04.2022 | COVID-19 | Original Article
SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study
Adrian M. Shields, Sian E. Faustini, Harriet J. Hill, Saly Al-Taei, Chloe Tanner, Fiona Ashford, Sarita Workman, Fernando Moreira, Nisha Verma, Hollie Wagg, Gail Heritage, Naomi Campton, Zania Stamataki, Paul Klenerman, James E. D. Thaventhiran, Sarah Goddard, Sarah Johnston, Aarnoud Huissoon, Claire Bethune, Suzanne Elcombe, David M. Lowe, Smita Y. Patel, Sinisa Savic, Siobhan O. Burns, Alex G. Richter, Zahra Ahmed, Hollie Bancroft, Michelle Bates, Hayley Clifford, Georgina Davis, Joanne Dasgin, Mohammad Dinally, Fatima Dhalla, Elena Efstathiou, Shuayb Elkhalifa, Mark Gompels, Dan Hartland, Madeeha Hoque, Emily Heritage, Deborah Hughes, Ann Ivory, Rashmi Jain, Sinead Kelly, Theresa McCarthy, Christopher McGee, Daniel Mullan, Hadeil Morsi, Eileen O’Grady, Shannon Page, Nicholas Peters, Timothy Plant, Archana Shajidevadas, Malgorzata Slowinsksa, Zehra Suleiman, Neil Townsend, Charlotte Trinham, Stuart Wareham, Sinead Walder
Open Access
20.04.2022 | COVID-19 | Original Article
The Impact of SARS-CoV-2 Infection in Patients with Inborn Errors of Immunity: the Experience of the Italian Primary Immunodeficiencies Network (IPINet)
Giuliana Giardino, Cinzia Milito, Vassilios Lougaris, Alessandra Punziano, Maria Carrabba, Francesco Cinetto, Riccardo Scarpa, Rosa Maria Dellepiane, Silvia Ricci, Beatrice Rivalta, Francesca Conti, Antonio Marzollo, Davide Firinu, Emilia Cirillo, Gianluca Lagnese, Caterina Cancrini, Baldassare Martire, Maria Giovanna Danieli, Andrea Pession, Angelo Vacca, Chiara Azzari, Giovanna Fabio, Annarosa Soresina, Carlo Agostini, Giuseppe Spadaro, Raffaele Badolato, Maria Pia Cicalese, Alessandro Aiuti, Alessandro Plebani, Isabella Quinti, Claudio Pignata
02.04.2022 | Letter to Editor
A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts
James Poulter, Andrew Gough, John D. Isaacs, Michael Green, Neil McHugh, Lesley Hordon, Sanjeet Kamath, Mohammed Nisar, Yusuf Patel, Cee-Seng Yee, Robert Stevens, Pradip Nandi, Anupama Nandagudi, Stephen Jarrett, Charles Li, Sarah Levy, Susan Mollan, Abdel Salih, Sarah Makie, Oliver Wordsworth, Emma Sanders, Esme Roads, Anne Gill, Lisa Carr, Christine Routledge, Karen Culfear, Asanka Nugaliyadde, Lynne James, Jenny Spimpolo, Andy Kempa, Felicity Mackenzie, Rosanna Fong, Genessa Peters, Bridie Rowbotham, Zahira Masqood, Jane Hollywood, Prisca Gondo, Rose Wood, Steve Martin, Lubna Haroon Rashid, James I. Robinson, Mike Morgan, Louise Sorensen, John Taylor, Alesia Khan, Mark Grey, Bosko Andjelic, Emma Nga, Diana Triantafyllopoulou, Paul Evans, Ann Morgan, Catherine Cargo, Sinisa Savic
Open Access
23.03.2022 | Original Article
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement
Leslie Naesens, Josephine Nemegeer, Filip Roelens, Lore Vallaeys, Marije Meuwissen, Katrien Janssens, Patrick Verloo, Benson Ogunjimi, Dimitri Hemelsoet, Steven Callens, Bart Dermaut, Wim Terryn, Nika Schuermans, Bruce Poppe, Levi Hoste, Lisa Roels, Marieke De Bruyne, Elfride De Baere, Jo Van Dorpe, Amélie Dendooven, Anne Sieben, Gillian I. Rice, Tessa Kerre, Rudi Beyaert, Carolina Uggenti, Yanick J. Crow, Simon J. Tavernier, Jonathan Maelfait, Filomeen Haerynck
Open Access
26.03.2022 | Original Article
Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency
Jérémie Rosain, Andrea Bernasconi, Emma Prieto, Lucia Caputi, Tom Le Voyer, Guadalupe Buda, Marcelo Marti, Jonathan Bohlen, Anna-Lena Neehus, Claudio Castaños, Rosario Gallagher, Karim Dorgham, Matias Oleastro, Laura Perez, Silvia Danielian, Jose Edgardo Dipierri, Jean-Laurent Casanova, Jacinta Bustamante, Mariana Villa
28.03.2022 | Original Article
Interpretation of Dihydrorhodamine-1,2,3 Flow Cytometry in Chronic Granulomatous Disease: an Atypical Exemplar
Agnes Donko, Douglas B. Kuhns, Margot A. Cousin, Matthew J. Smith, Keith A. Sacco, Eric W. Klee, Avni Y. Joshi, Ralitza H. Gavrilova, Steven M. Holland, Thomas L. Leto, Roshini S. Abraham
21.04.2022 | Original Article
Granulocyte Transfusions in Patients with Chronic Granulomatous Disease Undergoing Hematopoietic Cell Transplantation or Gene Therapy
Danielle E. Arnold, Deepak Chellapandian, Suhag Parikh, Kanwaldeep Mallhi, Rebecca A. Marsh, Jennifer R. Heimall, Debra Grossman, Maria Chitty-Lopez, Luis Murguia-Favela, Andrew R. Gennery, Farid Boulad, Erin Arbuckle, Morton J. Cowan, Christopher C. Dvorak, Linda M. Griffith, Elie Haddad, Donald B. Kohn, Luigi D. Notarangelo, Sung-Yun Pai, Jennifer M. Puck, Michael A. Pulsipher, Troy Torgerson, Elizabeth M. Kang, Harry L. Malech, Jennifer W. Leiding
22.04.2022 | Original Article
Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency
Elif Ozturk, Mehmet Cihangir Catak, Ayca Kiykim, Dilek Baser, Sevgi Bilgic Eltan, Koray Yalcin, Nurhan Kasap, Ercan Nain, Alper Bulutoglu, Gamze Akgun, Yasemin Can, Asena Pinar Sefer, Royala Babayeva, Suar Caki-Kilic, Gulsun Tezcan Karasu, Akif Yesilipek, Ahmet Ozen, Elif Karakoc-Aydiner, Safa Baris
Open Access
28.04.2022 | Original Article
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience
Rabab E. EL Hawary, Safa S. Meshaal, Dalia S. Abd Elaziz, Radwa Alkady, Sohilla Lotfy, Alia Eldash, Aya Erfan, Engy A. Chohayeb, Mai M. Saad, Rania K. Darwish, Jeannette A. Boutros, Nermeen M. Galal, Aisha M. Elmarsafy
Open Access
29.04.2022 | Original Article
Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations—10 Children and Review of the Literature
Angela Deyà-Martínez, Jaques G. Rivière, Pérsio Roxo-Junior, Jan Ramakers, Markéta Bloomfield, Paloma Guisado Hernandez, Pilar Blanco Lobo, Soraya Regina Abu Jamra, Ana Esteve-Sole, Veronika Kanderova, Ana García-García, Mireia Lopez-Corbeto, Natalia Martinez Pomar, Andrea Martín-Nalda, Laia Alsina, Olaf Neth, Peter Olbrich
Open Access
29.04.2022 | Original Article
Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains
Rensheng Wan, Maximilian Schieck, Andrés Caballero-Oteyza, Winfried Hofmann, Alexis Virgil Cochino, Anna Shcherbina, Roya Sherkat, Clarisse Wache-Mainier, Anita Fernandez, Marc Sultan, Thomas Illig, Bodo Grimbacher, Michele Proietti, Doris Steinemann
