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Autoinflammatory Diseases Due to Defects in Degradation or Transport of Intracellular Proteins.

Advances in experimental medicine and biology - 1 Jan 2024

Sasaki Izumi, Kato Takashi, Kanazawa Nobuo, Kaisho Tsuneyasu

Abstract excerpt

The number of human inborn errors of immunity has now gone beyond 430. The responsible gene variants themselves are apparently the cause for the disorders, but the underlying molecular or cellular mechanisms for the pathogenesis are often unclear. In order to clarify the pathogenesis, the mutant mice carrying the gene variants are apparently useful and important. Extensive analysis of those mice should contribute...

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PMID: 38467974
DOI: 10.1007/978-981-99-9781-7_6

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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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