Ausgabe 4/2024
Inhalt (21 Artikel)
Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF
June-Young Koh, Doo Ri Kim, Sohee Son, Hwanhee Park, Kyung-Ran Kim, Sunwoo Min, Ha Seok Lee, Byung Woo Jhun, Eun-Suk Kang, Inkyung Jung, Ji-Man Kang, Yae-Jean Kim, Eui-Cheol Shin
Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib
Laura Dotta, Francesca Todaro, Manuela Baronio, Mauro Giacomelli, Marinella Pinelli, Martina Giambarda, Beatrice Brognoli, Silvia Greco, Francesca Rota, Manuela Cortesi, Annarosa Soresina, Daniele Moratto, Cesare Tomasi, Rosalba Monica Ferraro, Silvia Giliani, Raffaele Badolato
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report
John McDonnell, Kimberley Cousins, M. Elizabeth M. Younger, Adam Lane, Hassan Abolhassani, Roshini S. Abraham, Salem Al-Tamemi, Juan Carlos Aldave-Becerra, Eman Hesham Al-Faris, Alberto Alfaro-Murillo, Suzan A. AlKhater, Nouf Alsaati, Alexa Michelle Altman Doss, Melissa Anderson, Ernestina Angarola, Barbara Ariue, Danielle E. Arnold, Amal H. Assa’ad, Caner Aytekin, Meaghan Bank, Jenna R. E. Bergerson, Jack Bleesing, John Boesing, Carolina Bouso, Nicholas Brodszki, Diana Cabanillas, Carol Cady, Meghan A. Callahan, Roberta Caorsi, Javier Carbone, Maria Carrabba, Riccardo Castagnoli, Jason R. Catanzaro, Samantha Chan, Sharat Chandra, Hugo Chapdelaine, Zahra Chavoshzadeh, Hey Jin Chong, Lori Connors, Filippo Consonni, Oscar Correa-Jimenez, Charlotte Cunningham-Rundles, Katherine D’Astous-Gauthier, Ottavia Maria Delmonte, Yesim Yilmaz Demirdag, Deepti R. Deshpande, Natalie M. Diaz-Cabrera, Victoria R. Dimitriades, Rasha El-Owaidy, Gehad ElGhazali, Suleiman Al-Hammadi, Giovanna Fabio, Astrid Schellnast Faure, Jin Feng, James M. Fernandez, Lauren Fill, Guacira R. Franco, Robert W. Frenck, Ramsay L. Fuleihan, Giuliana Giardino, Jessica Galant-Swafford, Eleonora Gambineri, Elizabeth K. Garabedian, Ashley V. Geerlinks, Ekaterini Goudouris, Octavio Grecco, Qiang Pan-Hammarström, Hedieh Haji Khodaverdi Khani, Lennart Hammarström, Nicholas L. Hartog, Jennifer Heimall, Gabriela Hernandez-Molina, Caroline C. Horner, Robert W. Hostoffer, Nataliya Hristova, Kuang-Chih Hsiao, Gabriela Ivankovich-Escoto, Faris Jaber, Maaz Jalil, Mahnaz Jamee, Tiffany Jean, Stephanie Jeong, Devi Jhaveri, Michael B. Jordan, Avni Y. Joshi, Amanpreet Kalkat, Henry J. Kanarek, Erinn S. Kellner, Amer Khojah, Ruby Khoury, Cristina M. Kokron, Ashish Kumar, Kelsey Lecerf, Heather K. Lehman, Jennifer W. Leiding, Harry Lesmana, Xin Rong Lim, Joao Pedro Lopes, Ana Laura López, Lucia Tarquini, Ingrid S. Lundgren, Julieann Magnusson, Ana Karolina B. B. Marinho, Gian Luigi Marseglia, Giulia M. Martone, Annamaria G. Mechtler, Leonardo Mendonca, Joshua D. Milner, Peter J. Mustillo, Asal Gharib Naderi, Samuele Naviglio, Jeremy Nell, Hana B. Niebur, Luigi Notarangelo, Matias Oleastro, María Claudia Ortega-López, Neil R. Patel, Gordana Petrovic, Claudio Pignata, Oscar Porras, Benjamin T. Prince, Jennifer M. Puck, Nashmia Qamar, Marco Rabusin, Nikita Raje, Lorena Regairaz, Kimberly A. Risma, Elizabeth H. Ristagno, John Routes, Persio Roxo-Junior, Negin Salemi, Christopher Scalchunes, Susan J. Schuval, Suranjith L. Seneviratne, Ashwin Shankar, Roya Sherkat, Junghee Jenny Shin, Abeer Siddiqi, Sara Signa, Ali Sobh, Fabiana Mascarenhas Souza Lima, Kristen K. Stenehjem, Jonathan S. Tam, Monica Tang, Myrthes Toledo Barros, James Verbsky, Eleni Vergadi, Dayne H. Voelker, Stefano Volpi, Luke A. Wall, Christine Wang, Kelli W. Williams, Eveline Y. Wu, Shan Shan Wu, Jessie J. Zhou, Alexandria Cook, Kathleen E. Sullivan, Rebecca Marsh
22q11.2 Deletion-Associated Blood-Brain Barrier Permeability Potentiates Systemic Capillary Leak Syndrome Neurologic Features
Alexis M. Crockett, Hania Kebir, Stewart A. Anderson, Soma Jyonouchi, Neil Romberg, Jorge I. Alvarez
Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment
Jiahui Zhang, Panfeng Tao, Natalie T. Deuitch, Xiaomin Yu, Ivona Askentijevich, Qing Zhou
A deep intronic BTK variant underlies X-linked agammaglobulinemia
Shoichiro Tateishi, Shoichi Shimizu, Kunihiko Moriya, Hirokazu Kanegane, Kohsuke Imai
An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect
Suprit Basu, Shubham Goel, Amit Rawat, Pandiarajan Vignesh, Biman Saikia
Monozygotic Twins with MAGT1 Deficiency and Epstein–Barr virus-positive Classic Hodgkin Lymphoma Receiving anti-CD30 CAR T-cell Immunotherapy: A case Report
Jiachen Wang, Mi Zhou, Jianfeng Zhou, Min Xiao, Liang Huang
Analysis of Clinical, Immunological and Molecular Features of Leukocyte Adhesion Deficiency Type I in Egyptian Children
Mai Magdy Saad, Radwa Alkady, Alia Eldash, Rabab E. El Hawary, Safa S. Meshaal, Nermeen M. Galal, Aisha M. Elmarsafy
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns
Andrey V. Marakhonov, Irina Yu. Efimova, Anna A. Mukhina, Rena A. Zinchenko, Natalya V. Balinova, Yulia Rodina, Dmitry Pershin, Oxana P. Ryzhkova, Anna A. Orlova, Viktoriia V. Zabnenkova, Tatiana B. Cherevatova, Tatiana S. Beskorovainaya, Olga A. Shchagina, Alexander V. Polyakov, Zhanna G. Markova, Marina E. Minzhenkova, Nadezhda V. Shilova, Sergey S. Larin, Maryam B. Khadzhieva, Ekaterina S. Dudina, Ekaterina V. Kalinina, Dzhaina A. Mudaeva, Djamila H. Saydaeva, Svetlana A. Matulevich, Elena Yu. Belyashova, Grigoriy I. Yakubovskiy, Inna S. Tebieva, Yulia V. Gabisova, Nataliya A. Irinina, Liya R. Nurgalieva, Elena V. Saifullina, Tatiana I. Belyaeva, Olga S. Romanova, Sergey V. Voronin, Anna Shcherbina, Sergey I. Kutsev
Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion
Ibrahim Serhat Karakus, Mehmet Cihangir Catak, Alexandra Frohne, Feyza Bayram Catak, Melek Yorgun Altunbas, Royala Babayeva, Sevgi Kostel Bal, Sevgi Bilgic Eltan, Ezgi Yalcin Gungoren, Fehim Esen, Itir Ebru Zemheri, Elif Karakoc-Aydiner, Ahmet Ozen, Suar Caki-Kilic, Michael J. Kraakman, Kaan Boztug, Safa Baris
OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers
Laura Batlle-Masó, Maria Antolin, Joana Marques-Soares, Romina Dieli-Crimi, Roger Colobran
Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform
Rafah Mackeh, Yasmin El Bsat, Asha Elmi, Hani Bibawi, Mohammed Yousuf Karim, Amel Hassan, Bernice Lo
Treatment of Progressive Multifocal Leukoencephalopathy with IL-2 and Mirtazapine
Lorne Schweitzer, Sapha Barkati, Pierre Laneuville, Susan Fox, Donald C. Vinh
Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3
Christo Tsilifis, Jarmila Stremenova Spegarova, Ross Good, Helen Griffin, Karin R. Engelhardt, Sophie Graham, Stephen Hughes, Peter D. Arkwright, Sophie Hambleton, Andrew R. Gennery
Mendelian Causes of Autoimmunity: the Lupus Phenotype
Maud Tusseau, Samira Khaldi-Plassart, Jade Cognard, Sebastien Viel, Liliane Khoryati, Sarah Benezech, Anne-Laure Mathieu, Fréderic Rieux-Laucat, Brigitte Bader-Meunier, Alexandre Belot
Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX
Linda Rossini, Claudia Maria Bonardi, Silvia Bresolin, Eva Trevisson, Antonio Marzollo
Inborn Errors of Immunity in Jordan: First Report from a Tertiary Referral Center
Raed Alzyoud, Motasem Alsuweiti, Heba Maaitah, Boshra Aladaileh, Mohammed Noubani, Hamazh Nsour
Phenotypic and Immunological Characterization of Patients with Activated PI3Kδ Syndrome 1 Presenting with Autoimmunity
Qifan Li, Wenjie Wang, Qi Wu, Qinhua Zhou, Wenjing Ying, Xiaoying Hui, Bijun Sun, Jia Hou, Feng Qian, Xiaochuan Wang, Jinqiao Sun
Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis
Takako Suzuki, Yoshitaka Sato, Yusuke Okuno, Yuka Torii, Yuto Fukuda, Kazunori Haruta, Makoto Yamaguchi, Yoshiki Kawamura, Asahito Hama, Atsushi Narita, Hideki Muramatsu, Tetsushi Yoshikawa, Yoshiyuki Takahashi, Hiroshi Kimura, Yoshinori Ito, Jun-ichi Kawada
Suppression of Type I Interferon Signaling in Myeloid Cells by Autoantibodies in Severe COVID-19 Patients
Ami Aoki, Chiaki Iwamura, Masahiro Kiuchi, Kaori Tsuji, Atsushi Sasaki, Takahisa Hishiya, Rui Hirasawa, Kota Kokubo, Sachiko Kuriyama, Atsushi Onodera, Tadanaga Shimada, Tetsutaro Nagaoka, Satoru Ishikawa, Akira Kojima, Haruki Mito, Ryota Hase, Yasunori Kasahara, Naohide Kuriyama, Sukeyuki Nakamura, Takashi Urushibara, Satoru Kaneda, Seiichiro Sakao, Osamu Nishida, Kazuhisa Takahashi, Motoko Y. Kimura, Shinichiro Motohashi, Hidetoshi Igari, Yuzuru Ikehara, Hiroshi Nakajima, Takuji Suzuki, Hideki Hanaoka, Taka-aki Nakada, Toshiaki Kikuchi, Toshinori Nakayama, Koutaro Yokote, Kiyoshi Hirahara