Ausgabe 4/2022
Inhalt (35 Artikel)
Atypical Autosomal Recessive AID Deficiency—Yet Another Piece of the Hyper-IgM Puzzle
Erika Della Mina, Stuart G. Tangye
Elevated CD21low B Cell Frequency Is a Marker of Poor Immunity to Pfizer-BioNTech BNT162b2 mRNA Vaccine Against SARS-CoV-2 in Patients with Common Variable Immunodeficiency
Peter Bergman, David Wullimann, Yu Gao, Emilie Wahren Borgström, Anna-Carin Norlin, Sara Lind Enoksson, Soo Aleman, Hans-Gustaf Ljunggren, Marcus Buggert, C. I. Edvard Smith
COVID-19 Vaccine Uptake and Efficacy in a National Immunodeficiency Cohort
Mark J. Ponsford, Kimberly Evans, Emily M. Carne, Stephen Jolles, Kathryn Bramhall, Leanne Grant, Frances McGuire, Anthony Matthews, Rachel Bradley, Sonali Wijetilleka, Alison Pritchard, Colin R. Price, Daniel Farewell, Richard Cousins, Tariq El-Shanawany
Post-SARS-CoV-2 Vaccine Monitoring of Disease Flares in Autoinflammatory Diseases
Sara Alehashemi, Evelien van Gelderen, Andre Rastegar, Adriana A. de Jesus, Raphaela Goldbach-Mansky
First Identified Case of Fatal Fulminant Eosinophilic Myocarditis Following the Initial Dose of the Pfizer-BioNTech mRNA COVID-19 Vaccine (BNT162b2, Comirnaty): an Extremely Rare Idiosyncratic Necrotizing Hypersensitivity Reaction Different to Hypersensitivity or Drug-Induced Myocarditis
Nicholas G. Kounis, Ioanna Koniari, Virginia Mplani, Panagiotis Plotas, Grigorios Tsigkas
Low Lymphocytes and IFN-Neutralizing Autoantibodies as Biomarkers of COVID-19 Mortality
Jesús Troya, Paul Bastard, Jean-Laurent Casanova, Laurent Abel, Aurora Pujol
Transient Increase of Pre-existing Anti-IFN-α2 Antibodies Induced by SARS-CoV-2 Infection
Sophie Steels, Jan Van Elslande, Maaike Cockx, Glynis Frans, Maya Imbrechts, Doreen Dillaerts, Isabelle Meyts, Nick Geukens, Els Wauters, Pieter Vermeersch, Joost Wauters, Paul De Munter, Xavier Bossuyt
22q11.2 Deletion and Duplication Syndromes and COVID-19
T. Blaine Crowley, Donna McDonald McGinn, Kathleen E. Sullivan, Caterina Cancrini, Andrew Gennery, Dinakantha Kumararatne, Donna McDonald McGinn, Solveig Oskarsdottir, Alex Richter, Kathleen E. Sullivan, Elfi Vergaelen
Diagnosis of APS-1 in Two Siblings Following Life-Threatening COVID-19 Pneumonia
Laire Schidlowski, Ana Paula Diniz Iwamura, Laurent Abel, Paul Bastard, Jacinta Bustamante, Jean-Laurent Casanova, Natalia Ciorcero, Sara Espinosa Padilla, Jose Luis Franco, Emmanuelle Jouanguy, Antonio Condino-Neto, Carolina Prando
Lymphocytes Utilize Somatic Mutations, Epigenetic Silencing, and the Proteasome to Escape Truncated WASP Expression
Caroline Khanna, Carole Le Coz, Courtney Vaccaro, Piyush Pillarisetti, Ainsley V. C. Knox, Andrew Sy, Edward M. Behrens, David Buchbinder, Neil Romberg
Pneumococcal IgG Antibody Responses to 23vPPV in Healthy Controls Using an Automated ELISA
Laine M. Hosking, Kirsten P. Perrett, Christine Czajko, Marilyn Clark, Sinead Flynn, Stephanie Richards, Sharon Choo
A Novel AICDA Splice-Site Mutation in Two Siblings with HIGM2 Permits Somatic Hypermutation but Abrogates Mutational Targeting
Johannes Dirks, Gabriele Haase, Tineke Cantaert, Lea Frey, Moritz Klaas, Christian H. Rickert, Hermann Girschick, Eric Meffre, Henner Morbach
Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network
Emilia Cirillo, Agata Polizzi, Annarosa Soresina, Rosaria Prencipe, Giuliana Giardino, Caterina Cancrini, Andrea Finocchi, Beatrice Rivalta, Rosa M. Dellepiane, Lucia A. Baselli, Davide Montin, Antonino Trizzino, Rita Consolini, Chiara Azzari, Silvia Ricci, Lorenzo Lodi, Isabella Quinti, Cinzia Milito, Lucia Leonardi, Marzia Duse, Maria Carrabba, Giovanna Fabio, Patrizia Bertolini, Paola Coccia, Irene D’Alba, Andrea Pession, Francesca Conti, Marco Zecca, Claudio Lunardi, Manuela Lo Bianco, Santiago Presti, Laura Sciuto, Roberto Micheli, Dario Bruzzese, Vassilios Lougaris, Raffaele Badolato, Alessandro Plebani, Luciana Chessa, Claudio Pignata
Loss of Function Mutation in ELF4 Causes Autoinflammatory and Immunodeficiency Disease in Human
Gan Sun, Luyao Qiu, Lang Yu, Yunfei An, Yuan Ding, Lina Zhou, Junfeng Wu, Xi Yang, Zhiyong Zhang, Xuemei Tang, Huawei Xia, Lili Cao, Fuping You, Xiaodong Zhao, Hongqiang Du
Health-Related Quality of Life in 91 Patients with X-Linked Agammaglobulinemia
Katherine Altman, Chuan Zhou, Vivian Hernandez-Trujillo, Christopher Scalchunes, David J. Rawlings, M. Teresa de la Morena
Hematopoietic Cell Transplantation for Adenosine Deaminase Severe Combined Immunodeficiency—Improved Outcomes in the Modern Era
Elisabetta Ghimenton, Aisling Flinn, Su Han Lum, Timothy R. Leahy, Zohreh Nademi, Stephen Owens, Eleri Williams, Terrence Flood, Sophie Hambleton, Mary Slatter, Andrew R. Gennery
X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry
Dana O’Toole, Daniel Groth, Hannah Wright, Francisco A. Bonilla, Ramsay L. Fuleihan, Charlotte Cunningham-Rundles, Kathleen E. Sullivan, Hans D. Ochs, Rebecca Marsh, Elizabeth Feuille
Activated Phosphoinositide 3-Kinase δ Syndrome: a Large Pediatric Cohort from a Single Center in China
Luyao Qiu, Yanping Wang, Wenjing Tang, Qiuyun Yang, Ting Zeng, Junjie Chen, Xuemei Chen, Liang Zhang, Lina Zhou, Zhiyong Zhang, Yunfei An, Xuemei Tang, Xiaodong Zhao
TCRαβ-Depleted Haploidentical Grafts Are a Safe Alternative to HLA-Matched Unrelated Donor Stem Cell Transplants for Infants with Severe Combined Immunodeficiency
Christo Tsilifis, Su Han Lum, Zohreh Nademi, Sophie Hambleton, Terence J. Flood, Eleri J. Williams, Stephen Owens, Mario Abinun, Andrew J. Cant, Mary A. Slatter, Andrew R. Gennery
Fatal and Unresponsive Cytomegalovirus Infection in a New Homozygous FOXN1 Gene Variation Causing Nude SCID
Herberto Jose Chong-Neto, Gesmar Rodrigues Silva Segundo, Nelson Augusto Rosário, Carlos Antônio Riedi, Débora Carla Chong-Silva, Rafael Aureliano Serrano, Bárbara Padilha Aroni, Jessé Vinícius Lana, Gabriela Cristina Ferreira Borges, Giliana Spilere Peruchi, Cristine Secco Rosário, Andrea Maciel Oliveira Rossoni, Tony Tannous Tahan, Gisele Loth
Correction to: Fatal and Unresponsive Cytomegalovirus Infection in a New Homozygous FOXN1 Gene Variation Causing Nude SCID
Herberto Jose Chong‑Neto, Gesmar Rodrigues Silva Segundo, Nelson Augusto Rosário
A Case Report of Fatal Mucormycosis in a 30-Year-Old Patient with Autoimmune Polyendocrine Syndrome Type 1
Jacob M. Rosenberg, Julian A. Villalba, Elise M. N. Ferrè, Michael K. Mansour, Michail S. Lionakis
STAT 3 GOF with Polycythemia: a Twist to the Tale-First Case Report from India
Vijaya Gowri, Prasad Taur, Akshaya Chougule, Mukesh Desai
Fatal JC-virus Granular Cerebellar Neuronopathy in a Patient Diagnosed with ALPS and Hypogammaglobulinemia
Jannik Helweg-Larsen, Morten Rasmussen, Hanne Vibeke Marquart, Daniel Kondziella, Rasmus L. Marvig, Maiken Worsøe Rosenstierne, Jakob Thaning Bay, Lars Peter Ryder, Lise Mette Rahbek Gjerdrum, Regitze Bangsgaard, Peter Gideon, Finn Thorup Sellebjerg, Anders Fomsgaard
Peeling Skin Syndrome Type 1: Dupilumab Reduces IgE, But Not Skin Anomalies
Barranca Alexis, Jonca Nathalie, Martin-Blondel Audrey, Apoil Pol-André, Mazereeuw-Hautier Juliette
Inborn Errors of Immunity in Latvia: Analysis of Data from 1994 to 2020
Tatjana Prokofjeva, Zane Lucane, Zanna Kovalova, Natalja Kurjane
Early Onset of TNFα-Driven Arthritis, Auto-inflammation, and Progressive Loss of Vision in a Patient with ALPK1 Mutation
Julia Hecker, Marilena Letizia, Britt-Sabina Loescher, Britta Siegmund, Carl Weidinger
A Novel Kindred with MyD88 Deficiency
Giorgia Bucciol, Leen Moens, Anniek Corveleyn, Alexandra Dreesman, Isabelle Meyts
Recurrent Breast Abscesses in a Female with Autosomal Dominant Hyper-IgE Syndrome
Vibha Szafron, Sohail R. Shah, Galit Holzmann-Pazgal, Giancarlo Toledanes, Nicholas L. Rider
PEPD-Related Prolidase Deficiency Presenting as Hyper-immunoglobulin E Syndrome
Ritasman Baisya, Prajnya Ranganath, Liza Rajasekhar
Lung MRI- Changing Paradigms in Evaluation of Chronic Granulomatous Disease in Children
Kushaljit Singh Sodhi, Richa Gauba, Anmol Bhatia, Akshay Kumar Saxena, Joseph L Mathew
A Case of XIAP Deficiency Successfully Managed with Tadekinig Alfa (rhIL-18BP)
Ashley V. Geerlinks, Andrea M. Dvorak, Michael B. Jordan, Eduardo J. Schiffrin, Edward M. Behrens, Rebecca Marsh
Prevalence of APECED-Like Clinical Disease in an Electronic Health Record Database, USA
Emily E. Ricotta, Elise M. N. Ferré, Monica M. Schmitt, Tom DiMaggio, Michail S. Lionakis
Oral Ulcers Resolution Using IL12/23 Blockade in an Infant with Leukocyte Adhesion Deficiency Type 1
Benjamin Fournier, Bénédicte Neven, Stéphanie Chhun, Stéphane Blanche, Martin Biosse Duplan
Correction to: Hemophagocytic lymphohistiocytosis in activated PI3K delta syndrome, an illustrative case report
Zijun Zhou, Timo Zondag, Maud Hermans, P. Martin van Hagen, Jan A. M. Laar