The intestinal microbiome and metabolome discern disease severity in cytotoxic T-lymphocyte-associated protein 4 deficiency

Abstract Background Cytotoxic T-lymphocyte-associated protein 4 deficiency (CTLA4-D) is an inborn error of immunity (IEI) caused by heterozygous mutations, and characterized by immune cell infiltration into the gut and other organs, leading to intestinal disease, immune dysregulation and autoimmunit...

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Main Authors: Prabha Chandrasekaran, Máté Krausz, Yu Han, Noriko Mitsuiki, Annemarie Gabrysch, Christina Nöltner, Michele Proietti, Theo Heller, Caroline Grou, Virginie Calderon, Poorani Subramanian, Drew R. Jones, Yik Siu, Clayton Deming, Sean Conlan, Steven M. Holland, Julia A. Segre, Gulbu Uzel, Bodo Grimbacher, Emilia Liana Falcone
Format: Article
Language:English
Published: BMC 2025-02-01
Series:Microbiome
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Online Access:https://doi.org/10.1186/s40168-025-02028-7
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