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Suppression of Type I Interferon Signaling in Myeloid Cells by Autoantibodies in Severe COVID-19 Patients J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-22 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
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Single-Cell Transcriptomic Analysis of Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-20 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
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Phenotypic and Immunological Characterization of Patients with Activated PI3Kδ Syndrome 1 Presenting with Autoimmunity J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-18 Qifan Li, Wenjie Wang, Qi Wu, Qinhua Zhou, Wenjing Ying, Xiaoying Hui, Bijun Sun, Jia Hou, Feng Qian, Xiaochuan Wang, Jinqiao Sun
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Inborn Errors of Immunity in Jordan: First Report from a Tertiary Referral Center J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-17 Raed Alzyoud, Motasem Alsuweiti, Heba Maaitah, Boshra Aladaileh, Mohammed Noubani, Hamazh Nsour
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Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-16 Linda Rossini, Claudia Maria Bonardi, Silvia Bresolin, Eva Trevisson, Antonio Marzollo
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Mendelian Causes of Autoimmunity: the Lupus Phenotype J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-15 Maud Tusseau, Samira Khaldi-Plassart, Jade Cognard, Sebastien Viel, Liliane Khoryati, Sarah Benezech, Anne-Laure Mathieu, Fréderic Rieux-Laucat, Brigitte Bader-Meunier, Alexandre Belot
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Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3 J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-10 Christo Tsilifis, Jarmila Stremenova Spegarova, Ross Good, Helen Griffin, Karin R. Engelhardt, Sophie Graham, Stephen Hughes, Peter D. Arkwright, Sophie Hambleton, Andrew R. Gennery
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Treatment of Progressive Multifocal Leukoencephalopathy with IL-2 and Mirtazapine J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-08 Lorne Schweitzer, Sapha Barkati, Pierre Laneuville, Susan Fox, Donald C. Vinh
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Novel Synonymous Variant in IL7R Causes Preferential Expression of the Soluble Isoform J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-08 Rafah Mackeh, Yasmin El Bsat, Asha Elmi, Hani Bibawi, Mohammed Yousuf Karim, Amel Hassan, Bernice Lo
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A deep intronic BTK variant underlies X-linked agammaglobulinemia J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-05 Shoichiro Tateishi, Shoichi Shimizu, Kunihiko Moriya, Hirokazu Kanegane, Kohsuke Imai
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An Indian Family with Autosomal Dominant Hyper-IgE Syndrome Due to IL6ST Defect J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-05 Suprit Basu, Shubham Goel, Amit Rawat, Pandiarajan Vignesh, Biman Saikia
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OTULIN Haploinsufficiency Causes Hyperinflammatory Responses to Infectious and Non-Infectious Triggers J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-05 Laura Batlle-Masó, Maria Antolin, Joana Marques-Soares, Romina Dieli-Crimi, Roger Colobran
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Patients with STAT1 Gain-of-function Mutations Display Increased Apoptosis which is Reversed by the JAK Inhibitor Ruxolitinib J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-05 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
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Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-05 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
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Rapamycin Controls Lymphoproliferation and Reverses T-Cell Responses in a Patient with a Novel STIM1 Loss-of-Function Deletion J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-05 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
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COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET Report J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-05 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
Background The CDC and ACIP recommend COVID-19 vaccination for patients with inborn errors of immunity (IEI). Not much is known about vaccine safety in IEI, and whether vaccination attenuates infection severity in IEI. Objective To estimate COVID-19 vaccination safety and examine effect on outcomes in patients with IEI. Methods We built a secure registry database in conjunction with the US Immunodeficiency
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Ruxolitinib Improves Immune-Dysregulation Features but not Epigenetic Abnormality in a Patient with STAT1 GOF J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-05 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
Purpose Patients with STAT1 gain-of-function (GOF) mutations often exhibit autoimmune features. The JAK1/2 inhibitor ruxolitinib can be administered to alleviate autoimmune symptoms; however, it is unclear how immune cells are molecularly changed by ruxolitinib treatment. Then, we aimed to investigate the trnscriptional and epigenetic status of immune cells before and after ruxolitinib treatment in
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Proteasome-Associated Syndromes: Updates on Genetics, Clinical Manifestations, Pathogenesis, and Treatment J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-05 Jiahui Zhang, Panfeng Tao, Natalie T. Deuitch, Xiaomin Yu, Ivona Askentijevich, Qing Zhou
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Monozygotic Twins with MAGT1 Deficiency and Epstein–Barr virus-positive Classic Hodgkin Lymphoma Receiving anti-CD30 CAR T-cell Immunotherapy: A case Report J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-05 Jiachen Wang, Mi Zhou, Jianfeng Zhou, Min Xiao, Liang Huang
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22q11.2 Deletion-Associated Blood-Brain Barrier Permeability Potentiates Systemic Capillary Leak Syndrome Neurologic Features J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-05 Alexis M. Crockett, Hania Kebir, Stewart A. Anderson, Soma Jyonouchi, Neil Romberg, Jorge I. Alvarez
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Analysis of Clinical, Immunological and Molecular Features of Leukocyte Adhesion Deficiency Type I in Egyptian Children J. Clin. Immunol. (IF 9.1) Pub Date : 2024-04-05 Mai Magdy Saad, Radwa Alkady, Alia Eldash, Rabab E. El Hawary, Safa S. Meshaal, Nermeen M. Galal, Aisha M. Elmarsafy
Purpose Leukocyte adhesion deficiency (LAD) represents a rare group of inherited inborn errors of immunity (IEI) characterized by bacterial infections, delayed umbilical stump separation, and autoimmunity. This single-center study aimed at describing the clinical, immunological, and molecular characterizations of 34 LAD-I Egyptian pediatric patients. Methods Details of 34 patients’ personal medical
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Inflammatory Proteomic Analysis of 22q11.2 Deletion Syndrome J. Clin. Immunol. (IF 9.1) Pub Date : 2024-03-15 Valentina Frusone, Kelly Maurer, Beverly S. Emanuel, Donna McDonald-McGinn, Kathleen E. Sullivan
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Germline HAVCR2/TIM-3 Checkpoint Inhibitor Receptor Deficiency in Recurrent Autoinflammatory Myocarditis J. Clin. Immunol. (IF 9.1) Pub Date : 2024-03-15 Nora Pernaa, Anni Vakkuri, Miika Arvonen, Outi Kuismin, Wenny Santaniemi, Virpi Glumoff, Elisa Lappi-Blanco, Ulla Lantto, Marjo Okkonen, Kari Kaikkonen, Juhani Junttila, Risto Kerkelä, Pirjo Åström, Timo Hautala
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Prevalence of Neutralizing Autoantibodies Against Type I Interferon in a Multicenter Cohort of Severe or Critical COVID-19 Cases in Shanghai J. Clin. Immunol. (IF 9.1) Pub Date : 2024-03-10 Dongling Shi, Jie Chen, Meng Zhao, Yuanjia Tang, Chen Zhao, Yinpeng Jin, Di Tian, Yixin Liao, Xuebi Wang, Wei Wang, Xiaohong Fan, Zhigang Yi, Xiaohua Chen, Yun Ling
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Parental Engagement in Identifying Information Needs After Newborn Screening for Families of Infants with Suspected Athymia J. Clin. Immunol. (IF 9.1) Pub Date : 2024-03-08 Evey Howley, Maarja Soomann, Alexandra Y. Kreins
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Involvement of IL-17 A/IL-17 Receptor A with Neutrophil Recruitment and the Severity of Coronary Arteritis in Kawasaki Disease J. Clin. Immunol. (IF 9.1) Pub Date : 2024-03-07 I-Chun Lin, Jau-Ling Suen, Shau-Ku Huang, Ming-Hui Chou, Hsuan-Chang Kuo, Mao-Hung Lo, Kuang-Che Kuo, Lin Wang
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The Complexity of Being A20: From Biological Functions to Genetic Associations J. Clin. Immunol. (IF 9.1) Pub Date : 2024-03-07 Urekha Karri, Magdalena Harasimowicz, Manuel Carpio Tumba, Daniella M. Schwartz
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A Novel Homozygous Six Base Pair Deletion Found in the NFATC2 Gene in a Patient with EBV-Associated Lymphoproliferation J. Clin. Immunol. (IF 9.1) Pub Date : 2024-03-01 Baran Erman, Sevgi Köstel Bal, Çiğdem Aydoğmuş, Gizem Zengin Ersoy, Kaan Boztug
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Novel Presentation of Major Histocompatibility Complex Class II Deficiency with Hemophagocytic Lymphohistiocytosis J. Clin. Immunol. (IF 9.1) Pub Date : 2024-03-01 Fayhan J. Alroqi, Musaab A. Alhezam, Abdullah I. Almojali, Tlili Barhoumi, Nouf Althubaiti, Yousef Alharbi, Mohammed A. Al Balwi, Abdulrahman Alrasheed
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Psychosocial Evaluation of Adults with Primary Immunodeficiency J. Clin. Immunol. (IF 9.1) Pub Date : 2024-02-27 Reyhan Gumusburun, Sevgi Altay, Hasancan Cengiz, Gulendam Hakverdioglu Yont, Ozlem Kuman Tuncel, Omur Ardeniz
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Successful Treatment of Refractory EBV-Associated Hemophagocytic Lymphohistiocytosis with Combined Emapalumab and PD-1 Blockade J. Clin. Immunol. (IF 9.1) Pub Date : 2024-02-24 Yue Song, Weiyang Li, Depei Wu, Xuefeng He, Jianhong Fu
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Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease J. Clin. Immunol. (IF 9.1) Pub Date : 2024-02-23 Sarah-Jolan Bremer, Annika Boxnick, Laura Glau, Daniel Biermann, Simon A. Joosse, Friederike Thiele, Elena Billeb, Jonathan May, Manuela Kolster, Romy Hackbusch, Mats Ingmar Fortmann, Rainer Kozlik-Feldmann, Michael Hübler, Eva Tolosa, Jörg Siegmar Sachweh, Anna Gieras
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Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Goutières Syndrome J. Clin. Immunol. (IF 9.1) Pub Date : 2024-02-21 Saba Jafarpour, Jolee Suddock, Debra Hawes, Jonathan D. Santoro
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Cord Blood Transplantation for Very Early-Onset Inflammatory Bowel Disease Caused by Interleukin-10 Receptor Deficiency J. Clin. Immunol. (IF 9.1) Pub Date : 2024-02-19 Ping Wang, Xiaowen Qian, Wenjin Jiang, Hongsheng Wang, Yuhuan Wang, Ying Zhou, Ye Zhang, Ying Huang, Xiaowen Zhai
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Compound Heterozygosity in Hyper‑IgM Syndrome Type 3: Case Report and Literature Review J. Clin. Immunol. (IF 9.1) Pub Date : 2024-02-16 Sultan Majid, Nikki Kimura, Fung Lam, Vincent Bonagura
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Recombinant IFN-γ1b Treatment in a Patient with Inherited IFN-γ Deficiency J. Clin. Immunol. (IF 9.1) Pub Date : 2024-02-16 Jérémie Rosain, Ayca Kiykim, Alexandre Michev, Yasemin Kendir-Demirkol, Darawan Rinchai, Jessica N. Peel, Hailun Li, Suheyla Ocak, Pinar Gokmirza Ozdemir, Tom Le Voyer, Quentin Philippot, Taushif Khan, Anna-Lena Neehus, Mélanie Migaud, Camille Soudée, Stéphanie Boisson-Dupuis, Nico Marr, Alessandro Borghesi, Jean-Laurent Casanova, Jacinta Bustamante
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Enrichment of Immune Dysregulation Disorders in Adult Patients with Human Inborn Errors of Immunity J. Clin. Immunol. (IF 9.1) Pub Date : 2024-02-16 Alejandro Segura-Tudela, Marta López-Nevado, Celia Nieto-López, Sandra García-Jiménez, María J. Díaz-Madroñero, Ángeles Delgado, Oscar Cabrera-Marante, Daniel Pleguezuelo, Pablo Morales, Estela Paz-Artal, Jorge Gil-Niño, Francisco M. Marco, Cristina Serrano, Luis I. González-Granado, Juan F. Quesada-Espinosa, Luis M. Allende
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Post-transplant Inflammatory Bowel Disease Associated with Donor-Derived TIM-3 Deficiency J. Clin. Immunol. (IF 9.1) Pub Date : 2024-02-16 Adrian Baldrich, Dominic Althaus, Thomas Menter, Julia R. Hirsiger, Julius Köppen, Robin Hupfer, Darius Juskevicius, Martina Konantz, Angela Bosch, Beatrice Drexler, Sabine Gerull, Adhideb Ghosh, Benedikt J. Meyer, Annaise Jauch, Katia Pini, Fabio Poletti, Caroline M. Berkemeier, Ingmar Heijnen, Isabelle Panne, Claudia Cavelti-Weder, Jan Hendrik Niess, Karen Dixon, Thomas Daikeler, Karin Hartmann,
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A Novel Heterozygous Variant in AICDA Impairs Ig Class Switching and Somatic Hypermutation in Human B Cells and is Associated with Autosomal Dominant HIGM2 Syndrome J. Clin. Immunol. (IF 9.1) Pub Date : 2024-02-16 Erika Della Mina, Katherine J. L. Jackson, Alexander J. I. Crawford, Megan L. Faulks, Karrnan Pathmanandavel, Nicolino Acquarola, Michael O’Sullivan, Tessa Kerre, Leslie Naesens, Karlien Claes, Christopher C. Goodnow, Filomeen Haerynck, Sven Kracker, Isabelle Meyts, Lloyd J. D’Orsogna, Cindy S. Ma, Stuart G. Tangye
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Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease J. Clin. Immunol. (IF 9.1) Pub Date : 2024-02-07 Clémence David, Mihaly Badonyi, Robin Kechiche, Antonella Insalaco, Marco Zecca, Fabrizio De Benedetti, Simona Orcesi, Luisa Chiapparini, Patrizia Comoli, Silvia Federici, Marco Gattorno, Monia Ginevrino, Elisa Giorgio, Valentina Matteo, Patricia Moran-Alvarez, Davide Politano, Giusi Prencipe, Fabio Sirchia, Stefano Volpi, Cécile Masson, Gillian I. Rice, Marie-Louise Frémond, Alice Lepelley, Joseph
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High Prevalence of Long COVID in Common Variable Immunodeficiency: An Italian Multicentric Study J. Clin. Immunol. (IF 9.1) Pub Date : 2024-02-06 Annalisa Villa, Cinzia Milito, Carla Maria Deiana, Renato Finco Gambier, Alessandra Punziano, Helena Buso, Patrick Bez, Gianluca Lagnese, Giulia Garzi, Giulia Costanzo, Gloria Giannuzzi, Chiara Pagnozzi, Virgil A. S. H. Dalm, Giuseppe Spadaro, Marcello Rattazzi, Francesco Cinetto, Davide Firinu
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A Rare AIOLOS N160S Variant Causing IEI in Human J. Clin. Immunol. (IF 9.1) Pub Date : 2024-02-01 Öner Özdemir, Ümmügülsüm Dikici, Murat Hakkı Yarar, Motoi Yamashita, Tomohiro Morio
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Impaired STING Activation Due to a Variant in the E3 Ubiquitin Ligase AMFR in a Patient with Severe VZV Infection and Hemophagocytic Lymphohistiocytosis J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-26 Michelle Mølgaard Thomsen, Morten Kelder Skouboe, Michelle Møhlenberg, Jian Zhao, Kerstin de Keukeleere, Johanna Laura Heinz, Marvin Werner, Anne Kruse Hollensen, Jonas Lønskov, Ian Nielsen, Madalina Elena Carter-Timofte, Baocun Zhang, Jacob Giehm Mikkelsen, Niels Fisker, Søren R. Paludan, Kristian Assing, Trine H. Mogensen
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A Novel Homozygous Germline Mutation in Transferrin Receptor 1 (TfR1) Leads to Combined Immunodeficiency and Provides New Insights into Iron-Immunity Axis J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-25
Abstract A homozygous missense mutation in the transferrin receptor 1 (TfR1), also known as CD71, leads to a rare inborn error of immunity (IEI) characterized by the impaired lymphocyte activation and proliferation due to defective iron uptake of cells. However, only one causative mutation (c.58T > C, p.Y20H) in the TFRC gene coding for TfR1 has been reported so far. We herein identified a new disease-causing
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Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-24 Marina Garcia-Prat, Laura Batlle-Masó, Alba Parra-Martínez, Clara Franco-Jarava, Mónica Martinez-Gallo, Aina Aguiló-Cucurull, Janire Perurena-Prieto, Neus Castells, Blanca Urban, Romina Dieli-Crimi, Pere Soler-Palacín, Roger Colobran
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Novel Pathogenic C5 Gene Variants in a Patient with Neisseria Meningitis and Diffuse Cutaneous HSV-1 Infection J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-17 W. Grant Day, Christian Horn, Jacob S. Hogue, Jared Magee, Shahrooz Shayegan, Luke Pittman
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Pediatric Pancytopenia and Monosomy 7: A Case Report of SAMD9L-Associated Disease J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-17 Vaishnavi V. Iyengar, Akshaya Chougule, Vijaya Gowri, Prasad Taur, Minnie Bodhanwala, Mukesh M. Desai
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Evaluation of Genetic or Cellular Impairments in Type I IFN Immunity in a Cohort of Young Adults with Critical COVID-19 J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-17 L. E. Covill, A. Sendel, T. M. Campbell, I. Piiroinen, S. Lind Enoksson, E. Wahren Borgström, S. Hansen, K. Ma, P. Marits, A. C. Norlin, C. I. E. Smith, J. Kåhlin, L. I. Eriksson, P. Bergman, Y. T. Bryceson
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“Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-17 Sam J. Olyha, Shannon K. O’Connor, Marat Kribis, Molly L. Bucklin, Dinesh Babu Uthaya Kumar, Paul M. Tyler, Faiad Alam, Kate M. Jones, Hassan Sheikha, Liza Konnikova, Saquib A. Lakhani, Ruth R. Montgomery, Jason Catanzaro, Hongqiang Du, Daniel V. DiGiacomo, Holly Rothermel, Christopher J. Moran, Karoline Fiedler, Neil Warner, Esther P.A.H. Hoppenreijs, Caspar I. van der Made, Alexander Hoischen, Peter
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The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-17 Emma Coppola, Mayla Sgrulletti, Manuela Cortesi, Roberta Romano, Emilia Cirillo, Giuliana Giardino, Laura Dotta, Caterina Cancrini, Dario Bruzzese, Raffaele Badolato, Viviana Moschese, Claudio Pignata
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Pyrin Inflammasome Activation Defines Colchicine-Responsive SURF Patients from FMF and Other Recurrent Fevers J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-17 Serena Palmeri, Federica Penco, Arinna Bertoni, Marta Bustaffa, Caterina Matucci-Cerinic, Riccardo Papa, Enrico Drago, Roberta Caorsi, Anna Corcione, Paola Bocca, Cristina Scarone, Anna Rubartelli, Stefano Volpi, Marco Gattorno, Ignazia Prigione
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Autoantibody-Mediated Depletion of IL-1RA in Still’s Disease and Potential Impact of IL-1 Targeting Therapies J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-17 Marie-Christin Hoffmann, Giulio Cavalli, Natalie Fadle, Eleonora Cantoni, Evi Regitz, Octavian Fleser, Philipp Klemm, Marina Zaks, Elisabeth Stöger, Corrado Campochiaro, Alessandro Tomelleri, Elena Baldissera, Jörg Thomas Bittenbring, Vincent Zimmer, Jochen Pfeifer, Yvan Fischer, Klaus-Dieter Preuss, Moritz Bewarder, Bernhard Thurner, Sabrina Fuehner, Dirk Foell, Lorenzo Dagna, Christoph Kessel, Lorenz
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Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-17 Priya K. Patel, Michell Lozano Chinga, Melis Yilmaz, Sonia Joychan, Boglarka Ujhazi, Maryssa Ellison, Sumai Gordon, Daime Nieves, Krisztian Csomos, Don Eslin, Zeinab A. Afify, Jessica Meznarich, John Bohnsack, Kelly Walkovich, Markus G. Seidel, Svetlana Sharapova, Oksana Boyarchyk, Elena Latysheva, Irina Tuzankina, Ahmad B. Shaker, Irmel Ayala, Panida Sriaroon, Emma Westermann-Clark, Jolan E. Walter
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Patient-Reported Outcomes and Medical Provider Satisfaction Among Adult and Pediatric Ataxia-Telangiectasia Patients J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-17 Nadine Kridli, Julie Sturza, Thomas F. Michniacki
Purpose Ataxia-telangiectasia (A-T) is a rare genetic condition with malfunctioning DNA repair processes resulting in significant clinical findings, including progressive neurologic decline, elevated malignancy risk, immunodeficiency, oculocutaneous telangiectasias, and severe pulmonary disease. Research has been limited into the quality of life of such patients and yet to be completed are studies
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Management of Atopy with Dupilumab and Omalizumab in CADINS Disease J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-17 Natalie M. Diaz-Cabrera, Bradly M. Bauman, Mildred A. Iro, Gina Dabbah-Krancher, Vered Molho-Pessach, Abraham Zlotogorski, Oded Shamriz, Yael Dinur-Schejter, Tatyana Dubnikov Sharon, Polina Stepensky, Yuval Tal, Eli M. Eisenstein, Leonora Pietzsch, Catharina Schuetz, Damien Abreu, Carrie C. Coughlin, Megan A. Cooper, Joshua D. Milner, Anthony Williams, Gil Armoni-Weiss, Andrew L. Snow, Jennifer W.
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Influence of Splenomegaly and Splenectomy on the Immune Cell Profile of Patients with Common Variable Immunodeficiency Disease J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-17 Jean-François Viallard, Marie Parrens, Patrick Blanco, Jean-François Moreau, Eric Oksenhendler, Claire Fieschi
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“The Regimental Pediatrician”: Driving in the Wilds J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-13 Rolf Kostmann
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The Journal of Clinical Immunology, “Moving On Up”: Its Impact on the Field of Inborn Errors of Immunity J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-09 Vincent R. Bonagura, Jean Laurent Casanova
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Reducing Mortality and Morbidity in Children with Severe Combined Immunodeficiency in Switzerland: the Role of Newborn Screening J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-02 Maarja Soomann, Seraina Prader, Aline Pinto Monteiro, Ulrike Zeilhofer, Mathias Hauri-Hohl, Tayfun Güngör, Jana Pachlopnik Schmid, Johannes Trück, Matthias Felber
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Filaggrin-Associated Atopic Skin, Eye, Airways, and Gut Disease, Modifying the Presentation of X-Linked Reticular Pigmentary Disorder (XLPDR) J. Clin. Immunol. (IF 9.1) Pub Date : 2024-01-02 Margaret W. Y. Li, Leslie Burnett, Pei Dai, Danielle T. Avery, Tahereh Noori, Ilia Voskoboinik, Parth R. Shah, Artiene Tatian, Stuart G. Tangye, Paul E. Gray, Cindy S. Ma