Issue 8/2022
Content (25 Articles)
HEM1 Actin Immunodysregulatory Disorder: Genotypes, Phenotypes, and Future Directions
Sarah Cook, Michael J. Lenardo, Alexandra F. Freeman
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
Post-SARS-CoV-2 Atypical Inflammatory Syndrome in a Toddler with X-Linked Inhibitor of Apoptosis Deficiency After Stem Cell Transplant
Prasanth G. Narahari, Jennifer Gebbia, Warren Alperstein, Gary Kleiner, Melissa Gans
Reduced Intensity Conditioning Allogeneic Transplant for SCID Associated with Cartilage Hair Hypoplasia
Taylor Fitch, Jack Bleesing, Rebecca A. Marsh, Sharat Chandra
First Successful Allogeneic Hematopoietic Stem Cell Transplantation for MKL1 Deficiency
Sanne Oegema, Stefanie S. V. Henriet, Koen J. van Aerde, Robbert G. M. Bredius, Dagmar Berghuis
Chronic Enteroviral Meningoencephalitis in a Patient with Good’s Syndrome Treated with Pocapavir
Alexandros Grammatikos, Philip Bright, Justin Pearson, Marcus Likeman, Mark Gompels
Optical Genomic Mapping Identified a Heterozygous Structural Variant in NCF2 Related to Chronic Granulomatous Disease
Xiaoying Hui, Jingmin Yang, Jing Zhang, Jinqiao Sun, Xiaochuan Wang
Adenosine Deaminase (ADA) Deficiency: Report of Six New Cases and Reappraisal of Cutaneous Hypermelanosis as an Early Feature
Samin Sharafian, Gabriella Jacomelli, Banafshe Tamizifar, Mohammad Shahrooei, Nima Parvaneh
Disseminated Cryptococcosis in a Patient with CD40 Ligand Deficiency
Ugo Françoise, Emmanuel Lafont, Felipe Suarez, Fanny Lanternier, Olivier Lortholary
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
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
SLGT2 Inhibitor Rescues Myelopoiesis in G6PC3 Deficiency
Prashant Hiwarkar, Umair Bargir, Ambreen Pandrowala, Minnie Bodhanwala, Naresh Thakker, Prasad Taur, Manisha Madkaikar, Mukesh Desai
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
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
Novel RAB27A Variant Associated with Late-Onset Hemophagocytic Lymphohistiocytosis Alters Effector Protein Binding
Timo C. E. Zondag, Lamberto Torralba-Raga, Jan A. M. Van Laar, Maud A. W. Hermans, Arjen Bouman, Iris H. I. M. Hollink, P. Martin Van Hagen, Deborah A. Briggs, Alistair N. Hume, Yenan T. Bryceson
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
Inborn Errors of Immunity in Patients with Adverse Events Following BCG Vaccination in Brazil
Paula T. Lyra, Edvaldo Souza, Ana Carla A. Moura, Marina C. Matta, Leuridan C. Torres, Antonio Victor Campos Coelho, Maria Ângela W. Rocha, Luiz Arraes, João Bosco Oliveira
Clinical and Immunological Defects and Outcomes in Patients with Chromosome 22q11.2 Deletion Syndrome
Hsin-Hui Yu, Yin-Hsiu Chien, Meng-Yao Lu, Ya-Chiao Hu, Jyh-Hong Lee, Li-Chieh Wang, Yu-Tsan Lin, Yao-Hsu Yang, Bor-Luen Chiang
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
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
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
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
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
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
Correction to: Peeling Skin Syndrome Type 1: Dupilumab Reduces IgE, But Not Skin Anomalies
Alexis Barranca, Nathalie Jonca, Audrey Martin-Blondel, Pol-André Apoil, Juliette Mazereeuw-Hautier