Autoinflammatory Diseases Due to Defects in Degradation or Transport of Intracellular Proteins
© 2024. The Author(s), under exclusive license to Springer Nature Singapore Pte Ltd..
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 to the clarification of novel immunoregulatory mechanisms or development of novel therapeutic maneuvers critical not only for the rare monogenic diseases themselves but also for related common polygenic diseases. We have recently generated novel model mice in which complicated manifestations of human inborn errors of immunity affecting degradation or transport of intracellular proteins were recapitulated. Here, we review outline of these disorders, mainly based on the phenotype of the mutant mice we have generated.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2024 |
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| Erschienen: |
2024 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:1444 |
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| Enthalten in: |
Advances in experimental medicine and biology - 1444(2024) vom: 11., Seite 83-95 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Sasaki, Izumi [VerfasserIn] |
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| Links: |
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| Themen: |
Autoinflammatory disease |
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| Anmerkungen: |
Date Completed 13.03.2024 Date Revised 13.03.2024 published: Print Citation Status MEDLINE |
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| doi: |
10.1007/978-981-99-9781-7_6 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| 520 | |a 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 to the clarification of novel immunoregulatory mechanisms or development of novel therapeutic maneuvers critical not only for the rare monogenic diseases themselves but also for related common polygenic diseases. We have recently generated novel model mice in which complicated manifestations of human inborn errors of immunity affecting degradation or transport of intracellular proteins were recapitulated. Here, we review outline of these disorders, mainly based on the phenotype of the mutant mice we have generated | ||
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