Ausgabe 1/2022
Inhalt (25 Artikel)
X-Linked TLR7 Deficiency Underlies Critical COVID-19 Pneumonia in a Male Patient with Ataxia-Telangiectasia
Hassan Abolhassani, Ahmad Vosughimotlagh, Takaki Asano, Nils Landegren, Bertrand Boisson, Samaneh Delavari, Paul Bastard, Maribel Aranda-Guillén, Yating Wang, Fanglei Zuo, Fabian Sardh, Harold Marcotte, Likun Du, Shen-Ying Zhang, Qian Zhang, Nima Rezaei, Olle Kämpe, Jean-Laurent Casanova, Lennart Hammarström, Qiang Pan-Hammarström
Comparison of Serum Total IgA Levels in Severe and Mild COVID-19 Patients and Control Group
Maral Barzegar-Amini, Mahmoud Mahmoudi, Maliheh Dadgarmoghaddam, Faramarz Farzad, Ali Qaraee Najafabadi, Farahzad Jabbari-Azad
A Case of Autosomal Recessive Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency with Severe COVID-19
Shaghayegh Khanmohammadi, Nima Rezaei, Mehdi Khazaei, Afshin Shirkani
Onset and Relapse of Juvenile Dermatomyositis Following Asymptomatic SARS-CoV-2 Infection
Mathieu Paul Rodero, Stéphane Pelleau, Anne Welfringer-Morin, Darragh Duffy, Isabelle Melki, Brigitte Bader-Meunier, Vincent Bondet, Cyril Gitiaux, Julie Bonigen, Antoine Fayand, Laurence Courdavault Vagh Weinmann, Emmanuel Mahe, Jean Luc Charuel, Marie-Alexandra Alyanakian, Jean Philippe Herbeuva, Michael White
Correction to: Onset and Relapse of Juvenile Dermatomyositis Following Asymptomatic SARS-CoV-2 Infection
Mathieu Paul Rodero, Stéphane Pelleau, Anne Welfringer-Morin, Vincent Bondet, Cyril Gitiaux, Julie Bonigen, Antoine Fayand, Laurence Courdavault Vagh Weinmann, Emmanuel Mahe, Jean Luc Charuel, Marie-Alexandra Alyanakian, Jean Philippe Herbeuval, Michael White, Darragh Duffy, Isabelle Melki, Brigitte Bader-Meunier
COVID-19 in CVID: a Case Series of 17 Patients
Jacob R. Greenmyer, Avni Y. Joshi
Persistent COVID-19 Infection in Wiskott-Aldrich Syndrome Cleared Following Therapeutic Vaccination: a Case Report
Rachel E. Bradley, Mark J. Ponsford, Martin J. Scurr, Andrew Godkin, Stephen Jolles, Kathryn Bramhall, Colin R. Price, Kimberly Evans, Emily Carne, Tariq El-Shanawany, Richard Cousins
Reduced-Intensity/Reduced-Toxicity Conditioning Approaches Are Tolerated in XIAP Deficiency but Patients Fare Poorly with Acute GVHD
Danielle E. Arnold, Rofida Nofal, Connor Wakefield, Kai Lehmberg, Katharina Wustrau, Michael H. Albert, Emma C. Morris, Jennifer R. Heimall, Nancy J. Bunin, Ashish Kumar, Michael B. Jordan, Theresa Cole, Sharon Choo, Tim Brettig, Carsten Speckmann, Stephan Ehl, Malgorzata Salamonowicz, Justin Wahlstrom, Kanchan Rao, Claire Booth, Austen Worth, Rebecca A. Marsh
Bowel Histology of CVID Patients Reveals Distinct Patterns of Mucosal Inflammation
Cornelia M. van Schewick, David M. Lowe, Siobhan O. Burns, Sarita Workman, Andrew Symes, David Guzman, Fernando Moreira, Jennifer Watkins, Ian Clark, Bodo Grimbacher
Late Onset of Chronic Granulomatous Disease Revealed by Paecilomyces lilacinus Cutaneous Infection
Clément Lemaigre, Felipe Suarez, Jean-Philippe Martellosio, Cindy Barbarin, Kévin Brunet, Jean Claude Chomel, Ewa Hainaut, Blandine Rammaert, France Roblot, José Miguel Torregrosa-Diaz
Long-Term Experience of Subcutaneous Immunoglobulin Therapy in Pediatric Primary Immunodeficient Patients with Low and Normal Body Weight
Yahya Gul, Hasan Kapakli, Sukru Nail Guner, Havva Bozkurt Alan, Esra Hazar, Sevgi Keles, Ismail Reisli
Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients
Parisa Amirifar, Mahya Mehrmohamadi, Mohammad Reza Ranjouri, Seyed Mohammad Akrami, Nima Rezaei, Ali Saberi, Reza Yazdani, Hassan Abolhassani, Asghar Aghamohammadi
Utility of Immunohistochemistry and Immunofluorescence in Determining the Pathogenic Variants of Chronic Granulomatous Disease
Aravind Sekar, Kirti Gupta, Amit Rawat, Ankur Jindal, Vignesh Pandiarajan, Deepti Suri, Anju Gupta, Gurjit Kaur, Ishwar Kumar, Anjani Gummadi, Archan Sil, Surjit Singh
Long-Term Immune Recovery After Hematopoietic Stem Cell Transplantation for ADA Deficiency: a Single-Center Experience
Alexandra Y. Kreins, Helena F. Velasco, Kai-Ning Cheong, Kanchan Rao, Paul Veys, Austen Worth, H. Bobby Gaspar, Claire Booth
A Double-Blind, Placebo-Controlled, Crossover Study of Magnesium Supplementation in Patients with XMEN Disease
Samuel D. Chauvin, Susan Price, Juan Zou, Sally Hunsberger, Alessandra Brofferio, Helen Matthews, Morgan Similuk, Sergio D. Rosenzweig, Helen C. Su, Jeffrey I. Cohen, Michael J. Lenardo, Juan C. Ravell
Hyper-IgE Syndrome due to an Elusive Novel Intronic Homozygous Variant in DOCK8
Stuart G. Tangye, Paul E. Gray, Bethany A. Pillay, Jin Yan Yap, William A. Figgett, John Reeves, Sarah K. Kummerfeld, Jennifer Stoddard, Gulbu Uzel, Huie Jing, Helen C. Su, Dianne E. Campbell, Anna Sullivan, Leslie Burnett, Jane Peake, Cindy S. Ma
Clinical, Immunological, and Molecular Variability of RAG Deficiency: A Retrospective Analysis of 22 RAG Patients
Cristina Cifaldi, Beatrice Rivalta, Donato Amodio, Algeri Mattia, Lucia Pacillo, Silvia Di Cesare, Maria Chiriaco, Giorgiana Madalina Ursu, Nicola Cotugno, Carmela Giancotta, Emma C. Manno, Veronica Santilli, Paola Zangari, Galaverna Federica, Giuseppe Palumbo, Pietro Merli, Paolo Palma, Paolo Rossi, Gigliola Di Matteo, Franco Locatelli, Andrea Finocchi, Caterina Cancrini
Altered Plasma Fatty Acids Associate with Gut Microbial Composition in Common Variable Immunodeficiency
Tonje Skarpengland, Magnhild E. Macpherson, Johannes R. Hov, Xiang Y. Kong, Pavol Bohov, Bente Halvorsen, Børre Fevang, Rolf K. Berge, Pål Aukrust, Silje F. Jørgensen
An Atypical Autoinflammatory Disease Due to an LRR Domain NLRP3 Mutation Enhancing Binding to NEK7
Emily A. Caseley, Samuel Lara-Reyna, James A. Poulter, Joanne Topping, Clive Carter, Fatima Nadat, Gavin P. Spickett, Sinisa Savic, Michael F. McDermott
Multicenter Experience of Hematopoietic Stem Cell Transplantation in WHIM Syndrome
Alexandra Laberko, Ekaterina Deordieva, Gergely Krivan, Vera Goda, Saleh Bhar, Yuta Kawahara, Kanchan Rao, Austen Worth, David H. McDermott, Dmitry Balashov, Alexey Maschan, Anna Shcherbina
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
BCG Disease in SCID: Three Decades of Experience in a Pediatric Transplant Center
Nicoletta Cocchi, Eva-Maria Jacobsen, Manfred Hoenig, Ansgar Schulz, Catharina Schuetz
Abnormal Results of Newborn Screening for SCID After Azathioprine Exposure In Utero: Benefit of TPMT Genotyping in Both Mother and Child
Maartje Blom, Ingrid Pico-Knijnenburg, Joris M. van Montfrans, Robbert G. M. Bredius, Mirjam van der Burg, Jesse J. Swen, Dagmar Berghuis
Partial Trisomy 9p with Clinical Symptoms Resembling Interferonopathies
Yuzaburo Inoue, Takeshi Yamamoto, Yoshitaka Honda, Kazushi Izawa, Takahiro Yasumi
Late-Onset Combined Immunodeficiency with Refractory CMV Disease due to ICOSL Deficiency
Vivian G. Loo, Lucie Roussel, Stéphane Bernier, Anna Perez, Donald C. Vinh