Issue 3/2023
Content (22 Articles)
Macrophage Activation Syndrome Complicated by Toxic Epidermal Necrolysis Following SARS-CoV-2 mRNA Vaccination
Lauren E. Franzblau, Melissa Mauskar, Christian A. Wysocki
Maternal Gonosomal Mosaicism Causes XIAP Deficiency
Dan Tomomasa, Motoi Yamashita, Takahiro Kamiya, Tomohiro Morio, Hirokazu Kanegane
Very Early Onset Inflammatory Bowel Disease Caused by a Novel Dominant Negative Mutation of Caspase Recruitment Domain 11 (CARD11)
Wenhui Hu, Ziqing Ye, Ping Li, Yuhuan Wang, Ying Huang
Aichivirus: an Emerging Pathogen in Patients with Primary and Secondary B-Cell Deficiency
Isabelle Meyts, Giorgia Bucciol, Katrien Jansen, Elke Wollants, Judith Breuer
ADA2 Deficiency Mimicking Acute Disseminated Encephalomyelitis
Lisa Ehlers, Giorgia Bucciol, Leen Moens, Anneleen Hombrouck, Selket Delafontaine, Benson Ogunjimi, Matthias De Wachter, Diane Beysen, Isabelle Meyts
Through Education and Collaboration to Better Care for Primary Imunodeficiencies in Albania and Kosovo
Vlora Ismaili-Jaha, Gjeorgjina Kuli-Lito, Shqipe Spahiu-Konjusha, Arbana Baloku, László Maródi
Lupus Vulgaris Revealing an IκBα Gain of Function Variant
Bruce Tapiero, Catherine Maari, Victor Kokta, Isabel Fernandez, Fabien Touzot
XLA and Recurrent Conjunctivitis: a Unique Association?
Vyanka Redenbaugh, Anne Sloan, Jacklyn Sui, John David Edgar, Tanya Coulter
Systemic Lupus Erythematosus in Shwachman-Diamond Syndrome: a Novel Phenotype
Tianyu Zhang, Zhongxun Yu, Sihao Gao, Lin Wang, Hongmei Song
Fatal RSV in SCID: the Importance of Infection Prevention Despite Newborn Screening
Maarja Soomann, Seraina Prader, Jana Pachlopnik Schmid, Tayfun Güngör, Johannes Trück
BT595, a 10% Human Normal Immunoglobulin, for Replacement Therapy of Primary Immunodeficiency Disease: Results of a Subcohort Analysis in Children
Gergely Kriván, Michael Borte, Pere Soler-Palacin, Joseph A. Church, Ildiko Csurke, James B. Harris, Jay A. Lieberman, Isaac R. Melamed, James N. Moy, Reka Simon, Silke Aigner, Stephan Lentze, Christiane Staiger
Increased Hazard Risk of First Malignancy in Adults with Undetectable Serum IgE: a Retrospective Cohort Study
Katherine N. Weller, John C. McDonnell, Jeffrey M. Albert, Mendel E. Singer, Fred H. Hsieh
Efficacy and Safety of Interferon-Gamma in Chronic Granulomatous Disease: a Systematic Review and Meta-analysis
Saul O. Lugo Reyes, Alejandro González Garay, Norma Yvett González Bobadilla, Diana Alejandra Rivera Lizárraga, Araceli Catalina Madrigal Paz, Edgar Alejandro Medina-Torres, Aristóteles Álvarez Cardona, José Luis Galindo Ortega, Cecilia Solís Galicia, Sara Elva Espinosa-Padilla, Chiharu Murata
Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan
Kento Inoue, Satoshi Miyamoto, Dan Tomomasa, Eriko Adachi, Shohei Azumi, Yasuo Horikoshi, Takashi Ishihara, Shinya Osone, Yuta Kawahara, Ko Kudo, Zenichiro Kato, Hidenori Ohnishi, Kenichi Kashimada, Kohsuke Imai, Osamu Ohara, Menno C. van Zelm, Morton J. Cowan, Tomohiro Morio, Hirokazu Kanegane
Knowledge, Attitudes, and Practices of Allergists/Immunologists Regarding Transition of Care for Primary Immunodeficiency Patients
Shipra Rai, Zoya Treyster, Artemio M. Jongco III
Novel Loss of Function (G15D) Mutation on RAC2 in a Family with Combined Immunodeficiency and Increased Levels of Immunoglobulin G, A, and E
Xiaojun Duan, Fang Shen, Yafei Deng, Jin Zhang, Fan Fang, Zhenqing Luo, Yanping Chen, Yongjia Yang
Juvenile Neuropsychiatric Systemic Lupus Erythematosus: Identification of Novel Central Neuroinflammation Biomarkers
Mathilde Labouret, Stefania Costi, Vincent Bondet, Vincent Trebossen, Enora Le Roux, Alexandra Ntorkou, Sophie Bartoli, Stéphane Auvin, Brigitte Bader-Meunier, Véronique Baudouin, Olivier Corseri, Glory Dingulu, Camille Ducrocq, Cécile Dumaine, Monique Elmaleh, Nicole Fabien, Albert Faye, Isabelle Hau, Véronique Hentgen, Théresa Kwon, Ulrich Meinzer, Naim Ouldali, Cyrielle Parmentier, Marie Pouletty, Florence Renaldo, Isabelle Savioz, Flore Rozenberg, Marie-Louise Frémond, Alice Lepelley, Gillian I. Rice, Luis Seabra, Jean-François Benoist, Darragh Duffy, Yanick J. Crow, Pierre Ellul, Isabelle Melki
SLP76 Mutation Associated with Combined Immunodeficiency and EBV-Related Lymphoma
Atar Lev, Mahdi Asleh, Shiran Levy, Yu Nee Lee, Amos J. Simon, Polina Stepensky, Karen Nalbandyan, Amit Nahum, Miriam Ben-Harosh, Deborah Yablonski, Arnon Broides, Raz Somech
Impact of Genetic Diagnosis on the Outcome of Hematopoietic Stem Cell Transplant in Primary Immunodeficiency Disorders
Federica Forlanini, Alice Chan, Jasmeen Dara, Christopher C. Dvorak, Morton J. Cowan, Jennifer M. Puck, Morna J. Dorsey
Primary Invasive Cutaneous Fusariosis in Patients with STAT3 Hyper-IgE Syndrome
Salam Abbara, Alexandra F. Freeman, Jérémie F. Cohen, Stéphanie Leclerc-Mercier, Lauren Sanchez, Joel Schlatter, Salvatore Cisternino, Ruth Parker, Edward W. Cowen, Claire Rouzaud, Marie Elisabeth Bougnoux, Fanny Lanternier, Michail S. Lionakis, Olivier Lortholary
FASCIA Method in the Assessment of Lymphocyte Mitogen Responses in the Laboratory Diagnostics of Primary Immunodeficiencies
Pauliina Lusila, Anne Toivonen, Hanna Jarva, Kim Vettenranta, Sari Lehtimäki, Eliisa Kekäläinen
FOXP3 TSDR Measurement Could Assist Variant Classification and Diagnosis of IPEX Syndrome
Rebecca C. Wyatt, Sven Olek, Elisa De Franco, Bjoern Samans, Kashyap Patel, Jayne Houghton, Steffi Walter, Janika Schulze, Rosa Bacchetta, Andrew T. Hattersley, Sarah E. Flanagan, Matthew B. Johnson