Not enough by half: NFAT5 haploinsufficiency in two patients with Epstein-Barr virus susceptibility

IntroductionThe transcription factor Nuclear factor of activated T cells 5 (NFAT5), pivotal in immune regulation and function, can be induced by osmotic stress and tonicity-independent signals. ObjectiveWe aimed to investigate and characterize two unrelated patients with Epstein-Barr virus susceptib...

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Veröffentlicht in:Frontiers in immunology 2022-09, Vol.13, p.959733-959733
Hauptverfasser: Lopez-Rivera, Daniela Olivia, Castano-Jaramillo, Lina Maria, Yamazaki-Nakashimada, Marco Antonio, Ramirez Uribe, Rosa María Nideshda, Corcuera Delgado, Celso Tomás, Ignorosa-Arellano, Karen R., Medina-Torres, Edgar Alejandro, Berrón Ruiz, Laura, Espinosa-Padilla, Sara Elva, Scheffler-Mendoza, Selma C., López-Velázquez, Gabriel, Cruz-Munoz, Mario Ernesto, Lugo Reyes, Saul O.
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Sprache:eng
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Zusammenfassung:IntroductionThe transcription factor Nuclear factor of activated T cells 5 (NFAT5), pivotal in immune regulation and function, can be induced by osmotic stress and tonicity-independent signals. ObjectiveWe aimed to investigate and characterize two unrelated patients with Epstein-Barr virus susceptibility and no known genetic etiology. MethodsAfter informed consent, we reviewed the electronic charts, extracted genomic DNA, performed whole-exome sequencing, filtered, and prioritized their variants, and confirmed through Sanger sequencing, family segregation analysis, and some functional assays, including lymphoproliferation, cytotoxicity, and characterization of natural killer cells. ResultsWe describe two cases of pediatric Mexican patients with rare heterozygous missense variants in NFAT5 and EBV susceptibility, a school-age girl with chronic-active infection of the liver and bowel, and a teenage boy who died of hemophagocytic lymphohistiocytosis. DiscussionNFAT5 is an important regulator of the immune response. NFAT5 haploinsufficiency has been described as an immunodeficiency syndrome affecting both innate and adaptive immunity. EBV susceptibility might be another manifestation in the spectrum of this disease.
ISSN:1664-3224
1664-3224
DOI:10.3389/fimmu.2022.959733