Issue 3/2024
Content (23 Articles)
The Complexity of Being A20: From Biological Functions to Genetic Associations
Urekha Karri, Magdalena Harasimowicz, Manuel Carpio Tumba, Daniella M. Schwartz
Prevalence of Neutralizing Autoantibodies Against Type I Interferon in a Multicenter Cohort of Severe or Critical COVID-19 Cases in Shanghai
Dongling Shi, Jie Chen, Meng Zhao, Yuanjia Tang, Chen Zhao, Yinpeng Jin, Di Tian, Yixin Liao, Xuebi Wang, Wei Wang, Xiaohong Fan, Zhigang Yi, Xiaohua Chen, Yun Ling
Compound Heterozygosity in Hyper‑IgM Syndrome Type 3: Case Report and Literature Review
Sultan Majid, Nikki Kimura, Fung Lam, Vincent Bonagura
Non-Helicobacter pylori Helicobacter Species as a Cause of Refractory Chronic Cellulitis in X-Linked Agammaglobulinemia
Qianqian Zhao, Jijun Ma, Jiawen Wu, Abdurahman Matruzi, Chongwei Li
Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Goutières Syndrome
Saba Jafarpour, Jolee Suddock, Debra Hawes, Jonathan D. Santoro
Successful Treatment of Refractory EBV-Associated Hemophagocytic Lymphohistiocytosis with Combined Emapalumab and PD-1 Blockade
Yue Song, Weiyang Li, Depei Wu, Xuefeng He, Jianhong Fu
Clinical Characteristics of Pediatric Patients with LRBA Deficiency in Mexico
Eduardo Liquidano-Perez, Selma Scheffler-Mendoza, Juan Carlos Bustamante-Ogando, Alfonso G. Ramirez-Ristori, Daniela Perez-Perez, Nidia Carolina Moreno-Corona, Eduardo Carrillo-Tapia, Laura Vazquez-Carrillo, Leopoldo Santos-Argumedo, Juan Carlos Rodriguez-Alba, Francisco Javier Espinosa-Rosales, Fabiola Mújica-Guzman, Maria Edith Gonzalez-Serrano, Marco Antonio Yamazaki-Nakashimada, Sara Elva Espinosa-Padilla, Gabriela Lopez-Herrera
Correction to: Clinical Characteristics of Pediatric Patients with LRBA Deficiency in Mexico
Eduardo Liquidano‑Perez, Selma Scheffler‑Mendoza, Juan Carlos Bustamante‑Ogando, Gabriela Lopez‑Herrera
Pharmacokinetics of Baricitinib in Cerebrospinal Fluid and Plasma in a Patient with SPENCD
Micol Romano, Ashley Geerlink, Erkan Demirkaya, Roberta A. Berard, Facundo Garcia-Bournissen
Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity
Alejandro Segura-Tudela, Marta López-Nevado, Celia Nieto-López, Sandra García-Jiménez, María J. Díaz-Madroñero, Ángeles Delgado, Oscar Cabrera-Marante, Daniel Pleguezuelo, Pablo Morales, Estela Paz-Artal, Jorge Gil-Niño, Francisco M. Marco, Cristina Serrano, Luis I. González-Granado, Juan F. Quesada-Espinosa, Luis M. Allende
Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency
Jérémie Rosain, Ayca Kiykim, Alexandre Michev, Yasemin Kendir-Demirkol, Darawan Rinchai, Jessica N. Peel, Hailun Li, Suheyla Ocak, Pinar Gokmirza Ozdemir, Tom Le Voyer, Quentin Philippot, Taushif Khan, Anna-Lena Neehus, Mélanie Migaud, Camille Soudée, Stéphanie Boisson-Dupuis, Nico Marr, Alessandro Borghesi, Jean-Laurent Casanova, Jacinta Bustamante
Post-transplant Inflammatory Bowel Disease Associated with Donor-Derived TIM-3 Deficiency
Adrian Baldrich, Dominic Althaus, Thomas Menter, Julia R. Hirsiger, Julius Köppen, Robin Hupfer, Darius Juskevicius, Martina Konantz, Angela Bosch, Beatrice Drexler, Sabine Gerull, Adhideb Ghosh, Benedikt J. Meyer, Annaise Jauch, Katia Pini, Fabio Poletti, Caroline M. Berkemeier, Ingmar Heijnen, Isabelle Panne, Claudia Cavelti-Weder, Jan Hendrik Niess, Karen Dixon, Thomas Daikeler, Karin Hartmann, Christoph Hess, Jörg Halter, Jakob Passweg, Alexander A. Navarini, Hiroyuki Yamamoto, Christoph T. Berger, Mike Recher, Petr Hruz
A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome
Erika Della Mina, Katherine J. L. Jackson, Alexander J. I. Crawford, Megan L. Faulks, Karrnan Pathmanandavel, Nicolino Acquarola, Michael O’Sullivan, Tessa Kerre, Leslie Naesens, Karlien Claes, Christopher C. Goodnow, Filomeen Haerynck, Sven Kracker, Isabelle Meyts, Lloyd J. D’Orsogna, Cindy S. Ma, Stuart G. Tangye
Cord Blood Transplantation for Very Early-Onset Inflammatory Bowel Disease Caused by Interleukin-10 Receptor Deficiency
Ping Wang, Xiaowen Qian, Wenjin Jiang, Hongsheng Wang, Yuhuan Wang, Ying Zhou, Ye Zhang, Ying Huang, Xiaowen Zhai
Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease
Sarah-Jolan Bremer, Annika Boxnick, Laura Glau, Daniel Biermann, Simon A. Joosse, Friederike Thiele, Elena Billeb, Jonathan May, Manuela Kolster, Romy Hackbusch, Mats Ingmar Fortmann, Rainer Kozlik-Feldmann, Michael Hübler, Eva Tolosa, Jörg Siegmar Sachweh, Anna Gieras
Psychosocial Evaluation of Adults with Primary Immunodeficiency
Reyhan Gumusburun, Sevgi Altay, Hasancan Cengiz, Gulendam Hakverdioglu Yont, Ozlem Kuman Tuncel, Omur Ardeniz
A Novel Homozygous Six Base Pair Deletion Found in the NFATC2 Gene in a Patient with EBV-Associated Lymphoproliferation
Baran Erman, Sevgi Köstel Bal, Çiğdem Aydoğmuş, Gizem Zengin Ersoy, Kaan Boztug
Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis
Fayhan J. Alroqi, Musaab A. Alhezam, Abdullah I. Almojali, Tlili Barhoumi, Nouf Althubaiti, Yousef Alharbi, Mohammed A. Al Balwi, Abdulrahman Alrasheed
Involvement of IL-17 A/IL-17 Receptor A with Neutrophil Recruitment and the Severity of Coronary Arteritis in Kawasaki Disease
I-Chun Lin, Jau-Ling Suen, Shau-Ku Huang, Ming-Hui Chou, Hsuan-Chang Kuo, Mao-Hung Lo, Kuang-Che Kuo, Lin Wang
Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia
Evey Howley, Maarja Soomann, Alexandra Y. Kreins
Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome
Valentina Frusone, Kelly Maurer, Beverly S. Emanuel, Donna McDonald-McGinn, Kathleen E. Sullivan
Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis
Nora Pernaa, Anni Vakkuri, Miika Arvonen, Outi Kuismin, Wenny Santaniemi, Virpi Glumoff, Elisa Lappi-Blanco, Ulla Lantto, Marjo Okkonen, Kari Kaikkonen, Juhani Junttila, Risto Kerkelä, Pirjo Åström, Timo Hautala
Correction to: Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers
Priya K. Patel, Michell Lozano Chinga, Melis Yilmaz, Sonia Joychan, Boglarka Ujhazi, Maryssa Ellison, Sumai Gordon, Daime Nieves, Krisztian Csomos, Don Eslin, Zeinab A. Afify, Jessica Meznarich, John Bohnsack, Kelly Walkovich, Markus G. Seidel, Svetlana Sharapova, Oksana Boyarchuk, Elena Latysheva, Irina Tuzankina, Ahmad B. Shaker, Irmel Ayala, Panida Sriaroon, Emma Westermann-Clark, Jolan E. Walter