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Article

Gaucher disease protects against tuberculosis.

Proceedings of the National Academy of Sciences of the United States of America - 14 Feb 2023

Fan Jingwen, Hale Victoria L, Lelieveld Lindsey T, Whitworth Laura J, Busch-Nentwich Elisabeth M, Troll Mark, Edelstein Paul H, Cox Timothy M, Roca Francisco J, Aerts Johannes M F G, Ramakrishnan Lalita

Abstract excerpt

Biallelic mutations in the glucocerebrosidase (GBA1) gene cause Gaucher disease, characterized by lysosomal accumulation of glucosylceramide and glucosylsphingosine in macrophages. Gaucher and other lysosomal diseases occur with high frequency in Ashkenazi Jews. It has been proposed that the underlying mutations confer a selective advantage, in particular conferring protection against tuberculosis. Here, using a...

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Identifiers

PMID: 36745788
DOI: 10.1073/pnas.2217673120
PMCID: PMC7614233

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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