17.08.2022 | COVID-19 | Original Article
Anaphylaxis to SARS-CoV-2 Vaccines in the Setting of a Nationwide Passive Epidemiological Surveillance Program
Carla Toledo-Salinas, Selma Cecilia Scheffler-Mendoza, Lina Maria Castano-Jaramillo, José Antonio Ortega-Martell, Blanca Estela Del Rio-Navarro, Ana María Santibáñez-Copado, José Luis Díaz-Ortega, Raúl Baptista-Rosas, Paulina Sánchez-Novoa, Miguel García-Grimshaw, Sergio Iván Valdés-Ferrer, Gustavo Reyes-Terán, David Alejandro Mendoza-Hernández
Open Access
11.07.2022 | Original Article
Evaluation of Laboratory and Sonographic Parameters for Detection of Portal Hypertension in Patients with Common Variable Immunodeficiency
Anna-Maria Globig, Valentina Strohmeier, Rambabu Surabattula, Diana J. Leeming, Morten A. Karsdal, Maximilian Heeg, Gerhard Kindle, Sigune Goldacker, Caroline von Spee-Mayer, Michele Proietti, Birke Bausch, Dominik Bettinger, Michael Schultheiß, Robert Thimme, Detlef Schuppan, Klaus Warnatz
Open Access
13.07.2022 | Original Article
A Novel Homozygous Stop Mutation in IL23R Causes Mendelian Susceptibility to Mycobacterial Disease
Frederik Staels, Flaminia Lorenzetti, Kerstin De Keukeleere, Mathijs Willemsen, Margaux Gerbaux, Julika Neumann, Thomas Tousseyn, Emanuela Pasciuto, Paul De Munter, Xavier Bossuyt, Rik Gijsbers, Adrian Liston, Stephanie Humblet-Baron, Rik Schrijvers
15.07.2022 | Original Article
Algerian Registry for Inborn Errors of Immunity in Children: Report of 887 Children (1985–2021)
Abdelghani Yagoubi, Azzeddine Tahiat, Nabila Souad Touri, Mohamed Samir Ladj, Ouardia Drali, Brahim Belaid, Ayda Mohand-Oussaid, Abdelhak Dehimi, Reda Belbouab, Yacine Ferhani, Souhila Melzi, Assia Guedouar, Saliha Hakem, Ouardia Khemici, Yacine Inouri, Yanis Meddour, Saadeddine Dib, Zohra Mansouri, Samir Iddir, Abderrahmane Boufersaoui, Houda Boudiaf, Abderrachid Bouhdjila, Ouardia Ibsaine, Hachemi Maouche, Djazia Dahlouk, Azzedine Mekki, Belkacem Bioud, Zair Bouzerar, Zoulikha Zeroual, Fadila Benhassine, Dahila Bekkat-Berkani, Soumeya Naamoune, Samir Sofiane Salah, Samia Chaib, Nabila Attal, Nadia Bensaadi, Nadira Bouchair, Nacira Cherif, Leila Kedji, Salih Bendeddouche, Mohamed Lamine Atif, Kamel Djenouhat, Nadia Kechout, Reda Djidjik, Keltoum Nafissa Benhalla, Leila Smati, Rachida Boukari
18.07.2022 | Original Article
Novel CD81 Mutations in a Chinese Patient Led to IgA Nephropathy and Impaired BCR Signaling
Lu Yang, Ping Liu, Hongqiang Du, Ran Chen, Bo Zhou, Yanan Li, Lina Zhou, Xiangli Wang, Cuihua Liu, Yuan Ding, Xuemei Tang, Yongwen Chen, Yunfei An, Xiaodong Zhao
28.07.2022 | Original Article
TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan
Manabu Wakamatsu, Daiei Kojima, Hideki Muramatsu, Yusuke Okuno, Shinsuke Kataoka, Fumiko Nakamura, Yoshimi Sakai, Ikuya Tsuge, Tsuyoshi Ito, Kazuto Ueda, Akiko Saito, Eiji Morihana, Yasuhiko Ito, Naoki Ohashi, Makito Tanaka, Taihei Tanaka, Seiji Kojima, Yoko Nakajima, Tetsuya Ito, Yoshiyuki Takahashi
10.08.2022 | Original Article
Cryptococcus gattii Infection as the Major Clinical Manifestation in Patients with Autoantibodies Against Granulocyte–Macrophage Colony-Stimulating Factor
Shang-Yu Wang, Yu-Fang Lo, Han-Po Shih, Mao-Wang Ho, Chun-Fu Yeh, Jhan-Jie Peng, He-Ting Ting, Kuo-Hsi Lin, Wen-Chi Huang, Yi-Chun Chen, Yu-Hsin Chiu, Chien-Wei Hsu, Yu-Ting Tseng, Lih-Shinn Wang, Wei-Yi Lei, Chen-Yuan Lin, Yu Aoh, Chia-Huei Chou, Tsai-Yi Wu, Jing-Ya Ding, Chia-Chi Lo, You-Ning Lin, Kun-Hua Tu, Wei-Te Lei, Chen-Yen Kuo, Chih-Yu Chi, Cheng-Lung Ku
Open Access
10.08.2022 | Original Article
A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease
Maddalena Migliavacca, Luca Basso Ricci, Giada Farinelli, Valeria Calbi, Francesca Tucci, Federica Barzaghi, Francesca Ferrua, Maria Pia Cicalese, Silvia Darin, Lina Raffaella Barzaghi, Fabio Giglio, Jacopo Peccatori, Francesca Fumagalli, Roberto Nicoletti, Stefania Giannelli, Claudia Sartirana, Alessandro Bandiera, Maria Esposito, Raffaella Milani, Benedetta Mazzi, Andrea Finocchi, Sarah Marktel, Andrea Assanelli, Franco Locatelli, Fabio Ciceri, Alessandro Aiuti, Maria Ester Bernardo
Open Access
10.08.2022 | Original Article
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients
Christoph B. Geier, Maryssa Ellison, Rachel Cruz, Sumit Pawar, Alexander Leiss-Piller, Katarina Zmajkovicova, Shannon M McNulty, Melis Yilmaz, Martin Oman Evans 2nd, Sumai Gordon, Boglarka Ujhazi, Ivana Wiest, Hassan Abolhassani, Asghar Aghamohammadi, Sara Barmettler, Saleh Bhar, Anastasia Bondarenko, Audrey Anna Bolyard, David Buchbinder, Michaela Cada, Mirta Cavieres, James A. Connelly, David C. Dale, Ekaterina Deordieva, Morna J. Dorsey, Simon B. Drysdale, Stephan Ehl, Reem Elfeky, Francesca Fioredda, Frank Firkin, Elizabeth Förster-Waldl, Bob Geng, Vera Goda, Luis Gonzalez-Granado, Eyal Grunebaum, Elzbieta Grzesk, Sarah E. Henrickson, Anna Hilfanova, Mitsuteru Hiwatari, Chihaya Imai, Winnie Ip, Soma Jyonouchi, Hirokazu Kanegane, Yuta Kawahara, Amer M. Khojah, Vy Hong-Diep Kim, Marina Kojić, Sylwia Kołtan, Gergely Krivan, Daman Langguth, Yu-Lung Lau, Daniel Leung, Maurizio Miano, Irina Mersyanova, Talal Mousallem, Mica Muskat, Flavio A. Naoum, Suzie A. Noronha, Monia Ouederni, Shuichi Ozono, G. Wendell Richmond, Inga Sakovich, Ulrich Salzer, Catharina Schuetz, Filiz Odabasi Seeborg, Svetlana O. Sharapova, Katja Sockel, Alla Volokha, Malte von Bonin, Klaus Warnatz, Oliver Wegehaupt, Geoffrey A. Weinberg, Ke-Juin Wong, Austen Worth, Huang Yu, Yulia Zharankova, Xiaodong Zhao, Lisa Devlin, Adriana Badarau, Krisztian Csomos, Marton Keszei, Joao Pereira, Arthur G Taveras, Sarah L. Beaussant-Cohen, Mei-Sing Ong, Anna Shcherbina, Jolan E. Walter
17.08.2022 | Original Article
SOCS1 Haploinsufficiency Presenting as Severe Enthesitis, Bone Marrow Hypocellularity, and Refractory Thrombocytopenia in a Pediatric Patient with Subsequent Response to JAK Inhibition
Thomas F. Michniacki, Kelly Walkovich, Lauren DeMeyer, Nadine Saad, Mark Hannibal, Matthew L. Basiaga, Kelly K. Horst, Smriti Mohan, Liang Chen, Kailey Brodeur, Yan Du, David Frame, Sandra Ngo, Jillian Simoneau, Noah Brown, Pui Y. Lee
17.08.2022 | Original Article
Genetic and Functional Identifying of Novel STAT1 Loss-of-Function Mutations in Patients with Diverse Clinical Phenotypes
Xuemei Chen, Junjie Chen, Ran Chen, Huilin Mou, Gan Sun, Lu Yang, Yanjun Jia, Qin Zhao, Wen Wen, Lina Zhou, Yuan Ding, Xuemei Tang, Jun Yang, Yunfei An, Xiaodong Zhao
18.08.2022 | Original Article
High Inborn Errors of Immunity Risk in Patients with Granuloma
Merve Süleyman, Oğuzhan Serin, Büşra Koçali, Diclehan Orhan, Elmas Ebru Yalçın, Uğur Özçelik, Mehmet Ceyhan, Nural Kiper, İlhan Tezcan, Deniz Dogru, Deniz Çağdaş