Issue 6/2022
Content (28 Articles)
Autoantibodies Neutralizing Type I INFs May Be Associated with Efficacy of Tocilizumab in COVID-19 Pneumonia
Angélique Chauvineau-Grenier, Paul Bastard, Jean-Laurent Casanova, Benjamin Rossi
Early and Rapid Identification of COVID-19 Patients with Neutralizing Type I Interferon Auto-antibodies
Bengisu Akbil, Tim Meyer, Paula Stubbemann, Charlotte Thibeault, Olga Staudacher, Daniela Niemeyer, Jenny Jansen, Barbara Mühlemann, Jan Doehn, Christoph Tabeling, Christian Nusshag, Cédric Hirzel, David Sökler Sanchez, Alexandra Nieters, Achim Lother, Daniel Duerschmied, Nils Schallner, Jan Nikolaus Lieberum, Dietrich August, Siegbert Rieg, Valeria Falcone, Hartmut Hengel, Uwe Kölsch, Nadine Unterwalder, Ralf-Harto Hübner, Terry C. Jones, Norbert Suttorp, Christian Drosten, Klaus Warnatz, Thibaud Spinetti, Joerg C. Schefold, Thomas Dörner, Leif Erik Sander, Victor M. Corman, Uta Merle, Florian Kurth, Horst von Bernuth, Christian Meisel, Christine Goffinet
Neutralizing SARS-CoV-2 Antibodies in Commercial Immunoglobulin Products Give Patients with X-Linked Agammaglobulinemia Limited Passive Immunity to the Omicron Variant
Hannes Lindahl, Jonas Klingström, Rui Da Silva Rodrigues, Wanda Christ, Puran Chen, Hans-Gustaf Ljunggren, Marcus Buggert, Soo Aleman, C. I. Edvard Smith, Peter Bergman
Defining Clinical and Immunological Predictors of Poor Immune Responses to COVID-19 mRNA Vaccines in Patients with Primary Antibody Deficiency
Junghee Jenny Shin, Jennefer Par-Young, Serhan Unlu, Andrew McNamara, Hong-Jai Park, Min Sun Shin, Renelle J. Gee, Hester Doyle, Yuliya Afinogenova, Elena Zidan, Jason Kwah, Armand Russo, Mark Mamula, Florence Ida Hsu, Jason Catanzaro, Michael Racke, Richard Bucala, Craig Wilen, Insoo Kang
A Rose Amongst the Thorns: the Mission of the J Project in a Conflictual World
László Maródi, Hassan Abolhassani, Tadej Avcin, Nerin Bahceciler, Mihaela Bataneant, Mikhail Belevtsev, Ewa Bernatowska, Mikhail Bolkov, Anastasia Bondarenko, Oksana Boyarchuk, Melinda Erdős, Nermeen Galal, Sevan Iritsyan, Vlora Ismaili-Jaha, Jadranka Kelecic, Sevgi Keles, Larysa Kostyuchenko, Elena Kovzel, Georgina Kuli-Lito, Natalja Kurjane, István Lázár, Jiri Litzman, Vafa Mammadova, Noémi Miltner, Kristina Mironska, Marianna Murdjeva, Umida Nabieva, Gulnara Nasrullayeva, Elissaveta Naumova, Bubusaira Orozbekova, Malgorzata Pac, Karaman Pagava, Mery Petrosyan, Gordana Petrovic, Lidija Pocek, Ismail Reisli, Krista Ress, Nima Rezaei, Svetlana Sciuca, Anna Sediva, Margit Serban, Svetlana Sharapova, Irina Snimshchikova, Shqipe Spahiu-Konjusha, Natasa Toplak, Irina Tuzankina, Alla Volokha
Complex Allele with Additive Gain-of-Function STING1 Variants in a Patient with Cavitating Lung Lesions and Aspergillosis
Aurélien Guffroy, Yannick Dieudonné, Vincent Gies, François Danion, Anne-Sophie Korganow, Julien Tarabeux, Yvon Ruch, Pauline Soulas-Sprauel, Stéphane Giorgiutti, Nadège Wadier, Bénédicte Gérard, Elsa Nourisson, Nadia Nathan, Marie Legendre, Marie-Louise Frémond, Valérie Letscher-Bru, Romain Kessler, Yves Hansmann
Two Novel Biallelic RASGRP1 Mutations Presenting with Immunodeficiency, Hodgkin’s Lymphoma, and Autoimmunity
Mana Momenilandi, Ali Pourvali, Leen Moens, Nima Parvaneh, Greet Wuyts, Isabelle Meyts, Saba Arshi, Narges Rahmanian, Roya Sherkat, Mohammad Shahrooei, Xavier Bossuyt
Revisiting Genetic Testing for Patients with Negative Results: IPEX and FOXP3
Sarah K. Baxter, Suleyman Gulsuner, David Hagin, Troy R. Torgerson, Tom Walsh
Time Course of Conical Teeth in Anhidrotic Ectodermal Dysplasia with Immunodeficiency
Yuta Aizawa, Chihaya Imai, Akihiko Saitoh
SCID and Other Inborn Errors of Immunity with Low TRECs — the Brazilian Experience
Lucila Akune Barreiros, Jusley Lira Sousa, Christoph Geier, Alexander Leiss-Piller, Marilia Pylles Patto Kanegae, Tábata Takahashi França, Bertrand Boisson, Alessandra Miramontes Lima, Beatriz Tavares Costa-Carvalho, Carolina Sanchez Aranda, Maria Isabel de Moraes-Pinto, Gesmar Rodrigues Silva Segundo, Janaira Fernandes Severo Ferreira, Fabíola Scancetti Tavares, Flávia Alice Timburiba de Medeiros Guimarães, Eliana Cristina Toledo, Ana Carolina da Matta Ain, Iramirton Figueirêdo Moreira, Gustavo Soldatelli, Anete Sevciovic Grumach, Mayra de Barros Dorna, Cristina Worm Weber, Regina Sumiko Watanabe Di Gesu, Vera Maria Dantas, Fátima Rodrigues Fernandes, Troy Robert Torgerson, Hans Dietrich Ochs, Jacinta Bustamante, Jolan Eszter Walter, Antonio Condino-Neto
Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations
Pilar Blanco Lobo, Paloma Guisado-Hernández, Isabel Villaoslada, Beatriz de Felipe, Carmen Carreras, Hector Rodriguez, Begoña Carazo-Gallego, Ana Méndez-Echevarria, José Manuel Lucena, Pilar Ortiz Aljaro, María José Castro, José Francisco Noguera-Uclés, Joshua D. Milner, Katelyn McCann, Ofer Zimmerman, Alexandra F. Freeman, Michail S. Lionakis, Steven M. Holland, Olaf Neth, Peter Olbrich
T and NK Cells in IL2RG-Deficient Patient 50 Years After Hematopoietic Stem Cell Transplantation
Janine E. Melsen, Monique M. van Ostaijen-ten Dam, Erik B. van den Akker, Marij J. P. Welters, Kim C. Heezen, Ingrid Pico-Knijnenburg, P. Martijn Kolijn, Robbert G. M. Bredius, Remco van Doorn, Anton W. Langerak, Marco W. Schilham, Arjan C. Lankester
Prevalence and Impact of Fatigue in Children with Primary Immunodeficiency Disorders: a Quantitative Single-Center Study
Eline Visser, Pieter Fraaij, Annemieke Hoogenboom, Erica Witkamp, Linda van der Knaap, Annemarie van Rossum, Kim Stol, Clementien Vermont
Retrospective, Landmark Analysis of Long-term Adult Morbidity Following Allogeneic HSCT for Inborn Errors of Immunity in Infancy and Childhood
James W. Day, Reem Elfeky, Bethany Nicholson, Rupert Goodman, Rachel Pearce, Thomas A. Fox, Austen Worth, Claire Booth, Paul Veys, Ben Carpenter, Rachael Hough, H. Bobby Gaspar, Penny Titman, Deborah Ridout, Sarita Workman, Fernando Hernandes, Kit Sandford, Arian Laurence, Mari Campbell, Siobhan O. Burns, Emma C. Morris
Chronic Granulomatous Disease-Like Presentation of a Child with Autosomal Recessive PKCδ Deficiency
Anna-Lena Neehus, Karen Tuano, Tom Le Voyer, Sarada L. Nandiwada, Kruthi Murthy, Anne Puel, Jean-Laurent Casanova, Javier Chinen, Jacinta Bustamante
Distinct CD8 T Cell Populations with Differential Exhaustion Profiles Associate with Secondary Complications in Common Variable Immunodeficiency
Adam Klocperk, David Friedmann, Alexandra Emilia Schlaak, Susanne Unger, Zuzana Parackova, Sigune Goldacker, Anna Sediva, Bertram Bengsch, Klaus Warnatz
Clinical and Phenotypic Characterization of Common Variable Immunodeficiency Diagnosed in Younger and Older Adults
Julia C. Fortier, Emily Haltigan, Vanessa Cavero-Chavez, Diana Gomez-Manjarres, Jacqueline D. Squire, Westley H. Reeves, Lyda Cuervo-Pardo
Combined Immunodeficiency Caused by a Novel De Novo Gain-of-Function RAC2 Mutation
Liang Zhang, Zhi Chen, Wenyan Li, Qiao Liu, Yanping Wang, Xuemei Chen, Zhirui Tian, Qiuyun Yang, Yunfei An, Zhiyong Zhang, Huawei Mao, Xuemei Tang, Ge Lv, Xiaodong Zhao
Inborn Errors of Immunity on the Island of Ireland — a Cross-Jurisdictional UKPID/ESID Registry Report
Paul Ryan, Vyanka Redenbaugh, Jayne McGucken, Gerhard Kindle, Lisa A. Devlin, Tanya Coulter, Matthew S. Buckland, Mikko R. J. Seppänen, Niall P. Conlon, Conleth Feighery, J. David M. Edgar
Correction to: Inborn Errors of Immunity on the Island of Ireland — a Cross‑Jurisdictional UKPID/ESID Registry Report
Paul Ryan, Vyanka Redenbaugh, Jayne McGucken, Gerhard Kindle, Lisa A. Devlin, Tanya Coulter, Matthew S. Buckland, Mikko R. J. Seppänen, Niall P. Conlon, Conleth Feighery, J. David M. Edgar
Molecular Assessment of Staphylococcus Aureus Strains in STAT3 Hyper-IgE Syndrome Patients
Vera Schwierzeck, Renate Effner, Felicitas Abel, Matthias Reiger, Gundula Notheis, Jürgen Held, Valeska Simon, Sebastian Dintner, Reinhard Hoffmann, Beate Hagl, Johannes Huebner, Alexander Mellmann, Ellen D. Renner
DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling
Maud Tusseau, Ema Lovšin, Charlotte Samaille, Rémi Pescarmona, Anne-Laure Mathieu, Maria-Cristina Maggio, Velma Selmanović, Marusa Debeljak, Angelique Dachy, Gregor Novljan, Alexandre Janin, Louis Januel, Jean-Baptiste Gibier, Emilie Chopin, Isabelle Rouvet, David Goncalves, Nicole Fabien, Gillian I Rice, Gaétan Lesca, Audrey Labalme, Paola Romagnani, Thierry Walzer, Sebastien Viel, Magali Perret, Yanick J. Crow, Tadej Avčin, Rolando Cimaz, Alexandre Belot
Severe Combined Immunodeficiency (SCID) Screening in Arizona: Lessons Learned from the First 2 Years
Natalie A. Booth, Catherine M. Freeman, Benjamin L. Wright, Christine Rukasin, Priscila Badia, Michael Daines, Cindy S. Bauer, Holly Miller
An Immunological Axis Involving Interleukin 1β and Leucine-Rich-α2-Glycoprotein Reflects Therapeutic Response of Children with Kawasaki Disease: Implications from the KAWAKINRA Trial
Christoph Kessel, Isabelle Koné-Paut, Stéphanie Tellier, Alexandre Belot, Katja Masjosthusmann, Helmut Wittkowski, Sabrina Fuehner, Linda Rossi-Semerano, Perrine Dusser, Isabelle Marie, Nadja Boukhedouni, Helène Agostini, Céline Piedvache, Dirk Foell
Pediatric Celiac Disease and Selective IgA Deficiency: Unexpected Sequence of Events
Maria Christine Ernst Andersen, Stine Dydensborg Sander, Gunvor Madsen, Søren T. Lillevang, Joseph Murray, Steffen Husby
Correction to: Life-Threatening Enterovirus 71 Encephalitis in Unrelated Children with Autosomal Dominant TLR3 Deficiency
Chen-Yen Kuo, Cheng-Lung Ku, Hye-Kyung Lim, Shao-Hsuan Hsia, Jainn-Jim Lin, Chia-Chi Lo, Jing-Ya Ding, Rei-Lin Kuo, Jean-Laurent Casanova, Shen-Ying Zhang, Luan-Yin Chang, Tzou-Yien Lin
Correction to: Malignancy in STAT3 Deficient Hyper IgE Syndrome
Amanda Urban, Stefania Pittaluga, Alexandra F. Freeman
Correction to: Vaccination for Patients with Inborn Errors of Immunity: A Nationwide Survey in Japan
Sho Hosaka, Takahiro Kido, Kazuo Imagawa, Hiroko Fukushima, Tomohiro Morio, Shigeaki Nonoyama, Hidetoshi Takada