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Neuron|March 13, 2025
Role of clonal inflammatory microglia in histiocytosis-associated neurodegenerationRocio Vicario, Stamatina Fragkogianni, Maria Pokrovskii, et al.
Proceedings of the National Academy of Sciences of the United States of America|April 20, 2021
Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial diseaseTom Le Voyer, Anna-Lena Neehus, Rui Yang, et al.
Journal of Clinical Immunology|July 12, 2018
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 DeficiencyJérémie Rosain, Carmen Oleaga-Quintas, Caroline Deswarte, et al.
Immunological Reviews|February 24, 2015
Inherited and acquired immunodeficiencies underlying tuberculosis in childhoodStéphanie Boisson-Dupuis, Jacinta Bustamante, Jamila El-Baghdadi, et al.
The Journal of Clinical Investigation|March 28, 2023
Human inherited complete STAT2 deficiency underlies inflammatory viral diseasesGiorgia Bucciol, Leen Moens, Masato Ogishi, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 4, 2018
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exonsAlexandre Bolze, Bertrand Boisson, Barbara Bosch, et al.
The Journal of Clinical Investigation|March 12, 2024
Neutralizing IFN-γ autoantibodies are rare and pathogenic in HLA-DRB1*15:02 or 16:02 individualsJessica N Peel, Rui Yang, Tom Le Voyer, et al.
Cell Reports|May 14, 2020
Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin LesionsMarta Martin-Fernandez, María Bravo García-Morato, Conor Gruber, et al.
Scientific Data|January 12, 2026
Community-based nearshore wave and water level monitoring in Nunavut, Arctic Canada 2021-2023David Didier, Faten Zouaghi, Stéphanie Coulombe, et al.
Proceedings of the National Academy of Sciences of the United States of America|December 9, 2016
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiencyRomain Lévy, Satoshi Okada, Vivien Béziat, et al.
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