Issue 4/2023
Content (22 Articles)
Foreword to the English Translation of Kostmann’s Memoirs
Jean-Laurent Casanova, Lennart Hammarström
COVID-19 and Mixed Cryoglobulinemia Syndrome: Long-Term Survey Study on the Prevalence and Outcome, Vaccine Safety, and Immunogenicity
Laura Gragnani, Marcella Visentini, Serena Lorini, Stefano Angelo Santini, Gianfranco Lauletta, Cesare Mazzaro, Teresa Urraro, Luca Quartuccio, Fabio Cacciapaglia, Piero Ruscitti, Antonio Tavoni, Silvia Marri, Giuseppina Cusano, Luisa Petraccia, Caterina Naclerio, Elena Treppo, Giulia del Frate, Ilenia Di Cola, Vincenzo Raimondo, Daniela Scorpiniti, Monica Monti, Lorenzo Puccetti, Giusy Elia, Poupak Fallahi, Stefania Basili, Salvatore Scarpato, Florenzo Iannone, Milvia Casato, Alessandro Antonelli, Anna Linda Zignego, Clodoveo Ferri
Pathogenic DDOST Variant Is Associated with Humoral Immune Deficiency
Andrea Sitek, Anna Ligezka, Rohit Budhraja, Eva Morava, Sergio E. Chiarella
Severe Periodontitis in Adults with Chronic Granulomatous Disease
Jorge Beltrán-Bustamante, Sara Espinosa Padilla, Jacinta Bustamante, María del Rosario Canseco, Cielo Razo Requena, Juan Carlos Bustamante Ogando, Eduardo De la Teja Ángeles, Lizbeth Blancas Galicia
STING-Associated Vasculopathy with Onset in infancy (SAVI) Presenting as Massive Intra Alveolar Hemorrhage
Clara Ladoux, Marlène Pasquet, Yanick J. Crow, Marie Louise Frémond, Léa Roditis
Compound Heterozygous Mutations in PRKCD Associated with Early-Onset Lupus and Severe and Invasive Infections in Siblings
Marion R. Roderick, Lucy Jefferson, William Renton, Alexandre Belot, Athimalaipet Vaidyanathan Ramanan, Stephen Jolles, Jolanta Bernatoniene, Anne-Laure Mathieu, Chris Buxton, Andrew R Gennery
Clinical Non-penetrance Associated with Biallelic Mutations in the RNase H2 Complex
Yanick J. Crow, Luis I Gonzalez-Granado, Giulia Coarelli, Lucie Pierron, Isabelle Maystadt, Matias Wagner, Mina Zamani, Saeid Sadeghian, Clémence David, Gillian I Rice
Autosomal Recessive Inflammatory Skin Disease Caused by a Novel Biallelic Loss-of-Function Variant in CARD11
Amie Nguyen, Henry Y. Lu, Bradly M. Bauman, Gina Dabbah-Krancher, Xijun Zhang, Gauthaman Sukumar, Joaquin Villar, Marita Bosticardo, Shefali Anil Samant, Timothy James Maarup, Jerry C. Cheng, Neena Kapoor, David S. Cassarino, Joshua D. Milner, Luigi D. Notarangelo, Joseph A. Church, Javed Sheikh, Clifton L. Dalgard, Stuart E. Turvey, Andrew L. Snow
Inborn Errors of Immunity in the Republic of Moldova: Advances and Hope
Svetlana Sciuca, Cristina Tomacinschii, Rodica Selevestru, Victoria Sacara, László Maródi
Distinct Lymphocyte Immunophenotyping and Quantitative Anti-Interferon Gamma Autoantibodies in Taiwanese HIV-Negative Patients with Non-Tuberculous Mycobacterial Infections
Wen-I. Lee, Yao-Fan Fang, Jing-Long Huang, Huey-Ling You, Meng-Ying Hsieh, Wan-Ting Huang, Chi-Jou Liang, Chen-Chen Kang, Ting-Shu Wu
Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical, Immunological, and Genetic Features of 22 Patients from 15 Moroccan Kindreds
Abderrahmane Errami, Jamila El Baghdadi, Fatima Ailal, Ibtihal Benhsaien, Jalila El Bakkouri, Leila Jeddane, Noureddine Rada, Noufissa Benajiba, Khaoula Mokhantar, Kaoutar Ouazahrou, Sanae Zaidi, Laurent Abel, Jean-Laurent Casanova, Stéphanie Boisson-Dupuis, Jacinta Bustamante, Ahmed Aziz Bousfiha
A Novel Deletion in FERMT3 Causes LAD-III in a Turkish Family
Nezihe Köker, İhsan Deveci, Karin van Leeuwen, Sinan Akbayram, Dirk Roos, Taco W. Kuijpers, Mustafa Yavuz Köker
Initial manifestations in Patients with Inborn Errors of Immunity Based on Onset Age: a Study from a Nationwide Survey in Japan
Takahiro Kido, Sho Hosaka, Kazuo Imagawa, Hiroko Fukushima, Tomohiro Morio, Shigeaki Nonoyama, Hidetoshi Takada
Clinical and Genetic Characteristics of BCG Disease in Chinese Children: a Retrospective Study
Yuyuan Zeng, Wenjing Ying, Wenjie Wang, Jia Hou, Luyao Liu, Bijun Sun, Xiaoying Hui, Yu Gu, Xiaoyu Song, Xiaochuan Wang, Jinqiao Sun
The Association of Serum Immunoglobulins with Risk of Cardiovascular Disease and Mortality: the Rotterdam Study
Samer R. Khan, Virgil A. S. H. Dalm, M. Kamran Ikram, Robin P. Peeters, P. Martin van Hagen, Maryam Kavousi, Layal Chaker
Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)
Yan Li, Mengyue Deng, Tongxin Han, Wenxiu Mo, Huawei Mao
Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications
Dharmagat Bhattarai, Daniel E. McGinn, T. Blaine Crowley, Victoria Giunta, Kimberly Gaiser, Elaine H. Zackai, Beverly S. Emanuel, Jennifer Heimall, Soma Jyonouchi, Juhee Lee, Di Sun, Donna M. McDonald-McGinn, Kathleen E. Sullivan
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2
Gaofeng Zhu, Mihaly Badonyi, Lina Franklin, Luis Seabra, Gillian I. Rice, Anne-Boland-Auge, Jean-François Deleuze, Salima El-Chehadeh, Mathieu Anheim, Anne de Saint-Martin, Sandra Pellegrini, Joseph A. Marsh, Yanick J. Crow, Marie-Therese El-Daher
The Autoimmune Manifestations in Patients with Genetic Defects in the B Cell Development and Differentiation Stages
Gholamreza Azizi, Mina Fattah Hesari, Niusha Sharifinejad, Farimah Fayyaz, Zahra Chavoshzadeh, Seyed Alireza Mahdaviani, Mahnaz Seifi Alan, Mahnaz Jamee, Marzieh Tavakol, Homa Sadri, Ehsan Shahrestanaki, Mohammad Nabavi, Sareh Sadat Ebrahimi, Afshin Shirkani, Ahmad Vosughi Motlagh, Samaneh Delavari, Seyed Erfan Rasouli, Marzie Esmaeili, Fereshte Salami, Reza Yazdani, Nima Rezaei, Hassan Abolhassani
A Cohort Study on Deficiency of ADA2 from China
Guo-min Li, Xu Han, Ye Wu, Wei Wang, Hong-xia Tang, Mei-ping Lu, Xue-mei Tang, Yi Lin, Fan Deng, Jun Yang, Xin-ning Wang, Cong-cong Liu, Wen-jie Zheng, Bing-bing Wu, Fang Zhou, Hong Luo, Liang Zhang, Hai-mei Liu, Wan-zhen Guan, Shi-hao Wang, Pan-feng Tao, Tai-jie Jin, Ran Fang, Yuan Wu, Jie Zhang, Yao Zhang, Tian-nan Zhang, Wei Yin, Li Guo, Wen-jing Tang, Hong Chang, Qiu-ye Zhang, Xiao-zhong Li, Jian-guo Li, Zhi-xuan Zhou, Si-rui Yang, Kang-kang Yang, Hong Xu, Hong-mei Song, Natalie T. Deuitch, Pui Y. Lee, Qing Zhou, Li Sun
Correction to: De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE‑1 Element Insertion Resulting in Chronic Granulomatous Disease
Lang Yu, Wenhui Li, Ge Lv, Gan Sun, Lu Yang, Junjie Chen, Lina Zhou, Yuan Ding, Zhiyong Zhang, Xuemei Tang, Yunfei An, Xiaodong Zhao