Ausgabe 3/2022
Inhalt (31 Artikel)
In memoriam: Stephen J Seligman, MD
Jean-Laurent Casanova, Qian Zhang, Paul Bastard, Emmanuelle Jouanguy
First Identified Case of Fatal Fulminant Necrotizing Eosinophilic Myocarditis Following the Initial Dose of the Pfizer-BioNTech mRNA COVID-19 Vaccine (BNT162b2, Comirnaty): an Extremely Rare Idiosyncratic Hypersensitivity Reaction
Rohan Ameratunga, See-Tarn Woon, Mary N. Sheppard, Jack Garland, Benjamin Ondruschka, Christopher X. Wong, Ralph A. H. Stewart, Michael Tatley, Simon R. Stables, Rexson D. Tse
Seasonal Betacoronavirus Antibodies’ Expansion Post-BNT161b2 Vaccination Associates with Reduced SARS-CoV-2 VoC Neutralization
Stefania Dispinseri, Ilaria Marzinotto, Cristina Brigatti, Maria Franca Pirillo, Monica Tolazzi, Elena Bazzigaluppi, Andrea Canitano, Martina Borghi, Alessandra Gallinaro, Roberta Caccia, Riccardo Vercesi, Paul F. McKay, Fabio Ciceri, Lorenzo Piemonti, Donatella Negri, Paola Cinque, Andrea Cara, Gabriella Scarlatti, Vito Lampasona
Autoantibodies Neutralizing Type I Interferons in 20% of COVID-19 Deaths in a French Hospital
Angélique Chauvineau-Grenier, Paul Bastard, Antoine Servajean, Adrian Gervais, Jérémie Rosain, Emmanuelle Jouanguy, Aurélie Cobat, Jean-Laurent Casanova, Benjamin Rossi
Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome
Hassan Abolhassani, Nils Landegren, Paul Bastard, Marie Materna, Mohammadreza Modaresi, Likun Du, Maribel Aranda-Guillén, Fabian Sardh, Fanglei Zuo, Peng Zhang, Harold Marcotte, Nico Marr, Taushif Khan, Manar Ata, Fatima Al-Ali, Remi Pescarmona, Alexandre Belot, Vivien Béziat, Qian Zhang, Jean-Laurent Casanova, Olle Kämpe, Shen-Ying Zhang, Lennart Hammarström, Qiang Pan-Hammarström
The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity
Markus G. Seidel, Victoria K. Tesch, Linlin Yang, Fabian Hauck, Anna Lena Horn, Maria Anna Smolle, Franz Quehenberger, Martin Benesch
Correction to: The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity
Markus G. Seidel, Victoria K. Tesch, Linlin Yang, Fabian Hauck, Anna Lena Horn, Maria Anna Smolle, Franz Quehenberger, Martin Benesch
A Multi‑Center, Open‑Label, Single‑Arm Trial to Evaluate the Efficacy, Pharmacokinetics, and Safety and Tolerability of IGSC 20% in Subjects with Primary Immunodeficiency
Manuel Santamaria, Olaf Neth, Jo A. Douglass, Gergely Krivan, Robin Kobbe, Ewa Bernatowska, Sofia Grigoriadou, Claire Bethune, Anita Chandra, Gerd Horneff, Michael Borte, Anja Sonnenschein, Pavlina Kralickova, Silvia Sánchez Ramón, Daman Langguth, Luis Ignacio Gonzalez-Granado, Laia Alsina, Montse Querolt, Rhonda Griffin, Carrie Hames, Elsa Mondou, Jeffrey Price, Ana Sanz, Jiang Lin
Correction to: A Multi-center, Open-Label, Single-Arm Trial to Evaluate the Efficacy, Pharmacokinetics, and Safety and Tolerability of IGSC 20% in Subjects with Primary Immunodeficiency
Manuel Santamaria, Olaf Neth, Jo A. Douglass, Gergely Krivan, Robin Kobbe, Ewa Bernatowska, Sofia Grigoriadou, Claire Bethune, Anita Chandra, Gerd Horneff, Michael Borte, Anja Sonnenschein, Pavlina Kralickova, Silvia Sánchez Ramón, Daman D. Langguth, Luis Ignacio Gonzalez‑Granado, Laia Alsina, Montse Querolt, Rhonda Griffin, Carrie Hames, Elsa Mondou, Jeffrey Price, Ana Sanz, Jiang Lin
CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics
Tábata Takahashi França, Lucila Akune Barreiros, Ranieri Coelho Salgado, Sarah Maria da Silva Napoleão, Lillian Nunes Gomes, Janáira Fernandes Severo Ferreira, Carolina Prando, Cristina Worm Weber, Regina Sumiko Watanabe Di Gesu, Cecilia Montenegro, Carolina Sanchez Aranda, Gisele Kuntze, Aidé Tamara Staines-Boone, Edna Venegas-Montoya, Juan Carlos Aldave Becerra, Liliana Bezrodnik, Daniela Di Giovanni, Ileana Moreira, Gisela Analia Seminario, Andrea Cecilia Gómez Raccio, Mayra de Barros Dorna, Nelson Augusto Rosário-Filho, Herberto Jose Chong-Neto, Elisa de Carvalho, Milena Baptistella Grotta, Julio Cesar Orellana, Miguel Garcia Dominguez, Oscar Porras, Laura Sasia, Karina Salvucci, Emilio Garip, Luiz Fernando Bacarini Leite, Wilma Carvalho Neves Forte, Fernanda Pinto-Mariz, Ekaterini Goudouris, María Enriqueta Nuñez Nuñez, Magdalena Schelotto, Laura Berrón Ruiz, Diana Inés Liberatore, Hans D. Ochs, Otavio Cabral-Marques, Antonio Condino-Neto
Correction to: CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics
Tábata Takahashi França, Lucila Akune Barreiros, Ranieri Coelho Salgado, Sarah Maria da Silva Napoleão, Lillian Nunes Gomes, Janáira Fernandes Severo Ferreira, Carolina Prando, Cristina Worm Weber, Regina Sumiko Watanabe Di Gesu, Cecilia Montenegro, Carolina Sanchez Aranda, Gisele Kuntze, Aidé Tamara Staines‑Boone, Edna Venegas‑Montoya, Juan Carlos Aldave Becerra, Liliana Bezrodnik, Daniela Di Giovanni, Ileana Moreira, Gisela Analia Seminario, Andrea Cecilia Gómez Raccio, Mayra de barros Dorna, Nelson Augusto Rosario‑Filho, Herberto Jose Chong‑Neto, Elisa de Carvalho, Milena Baptistella Grotta, Julio Cesar Orellana, Miguel Garcia Dominguez, Oscar Porras, Laura Sasia, Karina Salvucci, Emilio Garip, Luiz Fernando Bacarini Leite, Wilma Carvalho Neves Forte, Fernanda Pinto‑Mariz, Ekaterini Goudouris, María Enriqueta Nuñez Nuñez, Magdalena Schelotto, Laura Berrón Ruiz, Diana Inés Liberatore, Hans D. Ochs, Otavio Cabral‑Marques, Antonio Condino‑Neto
Hematopoietic Cell Transplantation for Inborn Errors of Immunity Other than Severe Combined Immunodeficiency in Japan: Retrospective Analysis for 1985–2016
Satoshi Miyamoto, Katsutsugu Umeda, Mio Kurata, Masakatsu Yanagimachi, Akihiro Iguchi, Yoji Sasahara, Keiko Okada, Takashi Koike, Reo Tanoshima, Masataka Ishimura, Masafumi Yamada, Maho Sato, Yoshiyuki Takahashi, Michiko Kajiwara, Hiroshi Kawaguchi, Masami Inoue, Yoshiko Hashii, Hiromasa Yabe, Koji Kato, Yoshiko Atsuta, Kohsuke Imai, Tomohiro Morio
Antiviral T-Cell Frequencies in a Healthy Population: Reference Values for Evaluating Antiviral Immune Cell Profiles in Immunocompromised Patients
Friederike C. Schulze Lammers, Agnes Bonifacius, Sabine Tischer-Zimmermann, Lilia Goudeva, Jörg Martens, Bernd Lepenies, Maria von Karpowitz, Gunilla Einecke, Gernot Beutel, Thomas Skripuletz, Rainer Blasczyk, Rita Beier, Britta Maecker-Kolhoff, Britta Eiz-Vesper
Identification of Germline Non-coding Deletions in XIAP Gene Causing XIAP Deficiency Reveals a Key Promoter Sequence
Zineb Sbihi, Kay Tanita, Camille Bachelet, Christine Bole, Fabienne Jabot-Hanin, Frederic Tores, Marc Le Loch, Radi Khodr, Akihiro Hoshino, Christelle Lenoir, Matias Oleastro, Mariana Villa, Lucia Spossito, Emma Prieto, Silvia Danielian, Erika Brunet, Capucine Picard, Takashi Taga, Shimaa Said Mohamed Ali Abdrabou, Takeshi Isoda, Masafumi Yamada, Alejandro Palma, Hirokazu Kanegane, Sylvain Latour
Predictive Factors for and Complications of Bronchiectasis in Common Variable Immunodeficiency Disorders
Johannes M. Sperlich, Bodo Grimbacher, Veronika Soetedjo, Sarita Workman, Siobhan O. Burns, David M. Lowe, John R. Hurst
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency
Naz Surucu Yilmaz, Sevgi Bilgic Eltan, Basak Kayaoglu, Busranur Geckin, Raul Jimenez Heredia, Asena Pinar Sefer, Ayca Kiykim, Ercan Nain, Nurhan Kasap, Omer Dogru, Ayse Deniz Yucelten, Leyla Cinel, Gulsun Karasu, Akif Yesilipek, Betul Sozeri, Goksu Gokberk Kaya, Ismail Cem Yilmaz, Ilayda Baydemir, Yagmur Aydin, Deniz Cansen Kahraman, Matthias Haimel, Kaan Boztug, Elif Karakoc-Aydiner, Ihsan Gursel, Ahmet Ozen, Safa Baris, Mayda Gursel
Cocktails of KLK5 Protease Inhibitors and Anti-TNFα Therapeutics: an Effective Treatment for Netherton Syndrome
Eleni Zingkou, Georgios Pampalakis, Georgia Sotiropoulou
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
Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs
Jenny Lingman Framme, Christina Lundqvist, Anna-Carin Lundell, Pauline A. van Schouwenburg, Andri L. Lemarquis, Karolina Thörn, Susanne Lindgren, Judith Gudmundsdottir, Vanja Lundberg, Sofie Degerman, Rolf H. Zetterström, Stephan Borte, Lennart Hammarström, Esbjörn Telemo, Magnus Hultdin, Mirjam van der Burg, Anders Fasth, Sólveig Oskarsdóttir, Olov Ekwall
Expanding the Clinical and Immunological Phenotypes and Natural History of MALT1 Deficiency
Asena Pinar Sefer, Hassan Abolhassani, Franziska Ober, Basak Kayaoglu, Sevgi Bilgic Eltan, Altan Kara, Baran Erman, Naz Surucu Yilmaz, Cigdem Aydogmus, Sezin Aydemir, Louis-Marie Charbonnier, Burcu Kolukisa, Gholamreza Azizi, Samaneh Delavari, Tooba Momen, Simuzar Aliyeva, Yasemin Kendir Demirkol, Saban Tekin, Ayca Kiykim, Omer Faruk Baser, Haluk Cokugras, Mayda Gursel, Elif Karakoc-Aydiner, Ahmet Ozen, Daniel Krappmann, Talal A. Chatila, Nima Rezaei, Safa Baris
Comprehensive Assessment of Skin Disorders in Patients with Common Variable Immunodeficiency (CVID)
Ali Zarezadeh Mehrabadi, Nazanin Aghamohamadi, Hassan Abolhassani, Asghar Aghamohammadi, Nima Rezaei, Reza Yazdani
Clinical Outcome and Underlying Genetic Cause of Functional Terminal Complement Pathway Deficiencies in a Multicenter UK Cohort
Annalie Shears, Cathal Steele, Jamie Craig, Stephen Jolles, Sinisa Savic, Rosie Hague, Tanya Coulter, Richard Herriot, Peter D. Arkwright
Clinicopathological Manifestations and Immune Phenotypes in Adult-Onset Immunodeficiency with Anti-interferon-γ Autoantibodies
Yi-Chun Chen, Shao-Wen Weng, Jing-Ya Ding, Chen-Hsiang Lee, Cheng-Lung Ku, Wen-Chi Huang, Huey-Ling You, Wan-Ting Huang
To the Editor: “Complete Resolution of Multiple Warts after a First Dose of the Receptor Interleukin-5 Inhibitor”
Kissy Guevara-Hoyer, Eduardo de la Fuente-Munoz, Celia Pinedo Sierra, Teresa Robledo, Silvia Sánchez-Ramón
Activated PI3 Kinase Delta Syndrome Revealed by Vasculitis and Disseminated Toxoplasmosis
Aurore Larrauffie, Charlotte Syrykh, Suzanne Tavitian, Thibault Comont, Jeremie Dion
A De Novo Cause of PGM3 Deficiency Treated with Hematopoietic Stem Cell Transplantation
Andrew Winslow, Elizabeth R. Jalazo, April Evans, Mike Winstead, Timothy Moran
Psychological Symptoms in Primary Immunodeficiencies: a Common Comorbidity?
Olivia R. Manusama, Nico J. M. van Beveren, P. Martin van Hagen, Hemmo A. Drexhage, Virgil A. S. H. Dalm
Malignancy in STAT3 Deficient Hyper IgE Syndrome
Amanda Urban, Christopher Melani, Mark Roschewski, Wyndham Wilson, Stefania Pittaluga, Haig Tcheurekdjian, Neha Desai, Irini Pateva, Alexandra F. Freeman
Hematopoietic Cell Transplant for CD40 Ligand Deficiency—Comparing Busulfan Versus Treosulfan
Vicky-Anne Carruthers, Su Han Lum, Terence Flood, Mary A. Slatter, Andrew R. Gennery
Vanishing Lymphocytes in a Case of Vanishing Bone Disease
Vaishnavi V. Iyengar, Vijaya Gowri, Prasad Taur, Akshaya Chougule, Minnie Bodhanwala, Umair A. Bargir, Manisha Madkaikar, Mukesh M. Desai
A Pitfall of Whole Exome Sequencing: Variants in the 5′UTR Splice Site of BTK Causing XLA
Sanami Takada, Ingrid Pico-Knijnenburg, Malgorzata Pac, Adilia Warris, Mirjam van der Burg