Issue 5/2024
Content (21 Articles)
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet)
Linda Rossini, Silvia Ricci, Davide Montin, Chiara Azzari, Eleonora Gambineri, Marco Tellini, Francesca Conti, Andrea Pession, Francesco Saettini, Samuele Naviglio, Erica Valencic, Andrea Magnolato, Lucia Baselli, Sara Azzolini, Rita Consolini, Lucia Leonardi, Irene D’Alba, Elisa Carraro, Roberta Romano, Daniela Melis, Stefano Stagi, Emilia Cirillo, Giuliana Giardino, Alessandra Biffi, Claudio Pignata, Maria Caterina Putti, Antonio Marzollo
Gérard Orth: From Viral to Human Genes Underlying Warts
Jean-Laurent Casanova, Emmanuelle Jouanguy
Treatment with Elapegademase Restores Immunity in Infants with Adenosine Deaminase Deficient Severe Combined Immunodeficiency
Elizabeth Daly Hicks, Geoffrey Hall, Michael S. Hershfield, Teresa K. Tarrant, Pawan Bali, John W. Sleasman, Rebecca H. Buckley, Talal Mousallem
Very-early-onset Inflammatory Bowel Disease in an Infant with a Partial RIPK1 Deletion
Ceyda Tuna Kırsaçlıoğlu, Alexandra Frohne, Zarife Kuloğlu, Isidora Kristofersdottir, Engin Demir, Cansu Altuntaş, Zehra Şule Haskoloğlu, Fatma Nazan Çobanoğlu, Tanıl Kendirli, Halil Özdemir, Zeynep Birsin Özçakar, Berna Savaş, Figen Doğu, Aydan İkincioğulları, Kaan Boztug, Aydan Kansu
Assessment of Sleep Disorders in Patients with CVID
Mantavya Punj, Seyed Sina Neshat, Alejandra Yu Lee Mateus, Joseph Cheung, Jacqueline D. Squire
T-cell Defects in a Patient with NFKBIA Gene Mutation
Jing Wu, Ying-Ying Jin, Xi Mo, Tong-Xin Chen
A Novel Combination of Compound Heterozygous Variants in IFNGR1 Causing Complete IFNGR1 Deficiency
Brenna Labere, Elizabeth Christian, Malika Kapadia, Susan Prockop, Douglas R. McDonald, Alicia M. Johnston
Functional Validation of a COPA Mutation Broadens the Spectrum of COPA Syndrome
Robin Kechiche, Clémence David, Joseph A. Marsh, Géraldine Labouret, Marie-Louise Frémond
Expression of full-length FOXP3 exceeds other isoforms in thymus and stimulated CD4 + T cells
Benita Kröger, Michael Spohn, Marion Mengel, Jan-Peter Sperhake, Benjamin Ondruschka, Reiner K. Mailer
Validation of Risk Factors for Early Mortality in Cartilage-Hair Hypoplasia
Svetlana Vakkilainen, Kira Ahonen, Rebecca Marsh, Elizabeth Secord, Jennifer Puck, Tamara Pozos, Christine M. Seroogy, Kathleen E. Sullivan, Kelly Walkovich, Nicholas L. Hartog, Patricia Lugar, Theresia Herget, Marina Garcia-Prat, Andrea Martin-Nalda, Peter Ciznar, John David Edgar, Fabio Candotti, Antje Hellige, Gerhard Kindle, Nel Dabrowska-Leonik, Marco Fischer, Stephan Ehl, Carsten Speckmann, Klaus Warnatz, Outi Mäkitie
Severe Tick-Borne Encephalitis (TBE) in a Patient with X-Linked Agammaglobulinemia; Treatment with TBE Virus IgG Positive Plasma, Clinical Outcome and T Cell Responses
Wilhelm Hedin, Peter Bergman, Mily Akhirunessa, Sandra Söderholm, Marcus Buggert, Tobias Granberg, Sara Gredmark-Russ, C. I. Edvard Smith, Aleksandra Pettke, Emilie Wahren Borgström
Identification and Functional Analysis of a de novo IKZF3 Mutation in a Pediatric Patient with Combined Immunodeficiency
Xiaoqi Shi, Xiuli Cao, Meiying Huang, Pingping Zhang, Guangli Yang, Aiyan Ren, Xin Dai, Ran Chen, Zhigang Yang, Zeyuan Cai, Yan Chen, Xiaodong Zhao, Pei Huang, Zuochen Du
Development of EBV Related Diffuse Large B-cell Lymphoma in Deficiency of Adenosine Deaminase 2 with Uncontrolled EBV Infection
Logan S. Gardner, Lachlin Vaughan, Danielle T. Avery, Isabelle Meyts, Cindy S. Ma, Stuart G. Tangye, Winny Varikatt, Ming-Wei Lin
Monitoring of Adverse Events and Safety in Autoinflammatory Diseases: Real-Life Data from the Eurofever Registry
Yulia Vyzhga, Joost Frenkel, Antonella Insalaco, Jordi Anton, Isabelle Koné-Paut, G. Elizabeth Legger, Giovanna Fabio, Marco Cattalini, Sylvia Kamphuis, Eric Hachulla, Karoline Krause, Zelal Ekinci, Judith Sanchez-Manubens, J. Merlijn Van den Berg, Cristina Herrera Mora, Danielle Brinkman, Eztizen Labrador, Judith Potjewijd, Luca Carlini, Marta Bustaffa, Roberta Caorsi, Nicolino Ruperto, Marco Gattorno
Fatal Disseminated Hepatitis E in an Adult Patient with IKBKB GOF Mutation
Leif G. Hanitsch, Marion Muche, Helena Radbruch, Jörg Hofmann, Victor M. Corman
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia
Dan Tomomasa, Beom Hee Lee, Yuki Hirata, Yuzaburo Inoue, Hidetaka Majima, Yusuke Imanaka, Takaki Asano, Takashi Katakami, Jina Lee, Atsushi Hijikata, Wittawin Worakitchanon, Xi Yang, Xiaowen Wang, Akira Watanabe, Katsuhiko Kamei, Yasufumi Kageyama, Go Hun Seo, Akihiro Fujimoto, Jean-Laurent Casanova, Anne Puel, Tomohiro Morio, Satoshi Okada, Hirokazu Kanegane
RAS-associated Autoimmune Leukoproliferative Disease (RALD-KRAS) Consistent with the Clinical Diagnosis of Rosai-Dorfman Disease: A 15-year Follow-up
Yu Tang, Huakun Wang, Hongjun Zhao, Shijie Jin, Junjiao Wu
Qualitative Immunoglobulin Deficiency Causes Bacterial Infections in Patients with STAT1 Gain-of-Function Mutations
Ran Chen, Huilin Mu, Xuemei Chen, Miyuki Tsumura, Lina Zhou, Xinhui Jiang, Zhiyong Zhang, Xuemei Tang, Yongwen Chen, Yanjun Jia, Satoshi Okada, Xiaodong Zhao, Yunfei An
Immune Thrombocytopenic Purpura (ITP) and Chorioretinopathy in Chronic Granulomatous Disease: A Case Report
Shaghayegh Khanmohammadi, Nazila Rezaei, Farzad Kompani, Mona Delkhah