Progress Research in the Immune-Actinopathies and Pathogenic Genes
Immuno-actinopathies are hereditary diseases characterized by immunodeficiency and immune dysregulation due to the mutations in single genes which are regulating actin remodeling. Mutations in actin-related regulatory genes can lead to functional defects in actin activation, extension, branching, tr...
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| Format: | Article |
| Language: | zho |
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Editorial Office of Journal of Rare Diseases
2024-10-01
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| Series: | 罕见病研究 |
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| Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.002 |
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| _version_ | 1841555685439963136 |
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| author | MA Shiyun ZHOU Lina AN Yunfei ZHAO Xiaodong |
| author_facet | MA Shiyun ZHOU Lina AN Yunfei ZHAO Xiaodong |
| author_sort | MA Shiyun |
| collection | DOAJ |
| description | Immuno-actinopathies are hereditary diseases characterized by immunodeficiency and immune dysregulation due to the mutations in single genes which are regulating actin remodeling. Mutations in actin-related regulatory genes can lead to functional defects in actin activation, extension, branching, transcription and others. The mutations also affect the cytoskeleton and pseudopod formation; then they further affect the functions of immune cell, resulting in cell deformation, motility, phagocytosis, and adhesion. The clinical manifestations vary, including infection, autoimmunity, autoinflammatory, and susceptibility to tumors, making the detection and diagnosis difficult. The pathogenic mechanisms of some of the related diseases have been preliminarily elucidated. Future research will focus on the identification of new immunoactinopathy-caused genes and its mechanism, discovery of new precision therapeutic target, development of drugs, improvement of hematopoietic stem cell transplantation strategies, and discovery of new gene therapy. Immuno-actinopathies have a low incidence rate with diversified clinical manifestations so that they are easy to be misdiagnosed and missed. This article reviews the pathogenic gene defects of actinopathies and their clinical manifestations in detail that are valuable to clinical reference. |
| format | Article |
| id | doaj-art-816b321564aa4a61999dc5fc2abcf9c8 |
| institution | Kabale University |
| issn | 2097-0501 |
| language | zho |
| publishDate | 2024-10-01 |
| publisher | Editorial Office of Journal of Rare Diseases |
| record_format | Article |
| series | 罕见病研究 |
| spelling | doaj-art-816b321564aa4a61999dc5fc2abcf9c82025-01-08T05:18:08ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012024-10-013441642210.12376/j.issn.2097-0501.2024.04.002Progress Research in the Immune-Actinopathies and Pathogenic GenesMA Shiyun0ZHOU Lina1AN Yunfei2ZHAO Xiaodong3Department of Rheumatology and Immunology, Children′s Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing 400014, ChinaDepartment of Rheumatology and Immunology, Children′s Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing 400014, ChinaDepartment of Rheumatology and Immunology, Children′s Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing 400014, ChinaDepartment of Rheumatology and Immunology, Children′s Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, China International Science and Technology Cooperation Base of Child Development and Critical Disorders, Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity, Chongqing 400014, ChinaImmuno-actinopathies are hereditary diseases characterized by immunodeficiency and immune dysregulation due to the mutations in single genes which are regulating actin remodeling. Mutations in actin-related regulatory genes can lead to functional defects in actin activation, extension, branching, transcription and others. The mutations also affect the cytoskeleton and pseudopod formation; then they further affect the functions of immune cell, resulting in cell deformation, motility, phagocytosis, and adhesion. The clinical manifestations vary, including infection, autoimmunity, autoinflammatory, and susceptibility to tumors, making the detection and diagnosis difficult. The pathogenic mechanisms of some of the related diseases have been preliminarily elucidated. Future research will focus on the identification of new immunoactinopathy-caused genes and its mechanism, discovery of new precision therapeutic target, development of drugs, improvement of hematopoietic stem cell transplantation strategies, and discovery of new gene therapy. Immuno-actinopathies have a low incidence rate with diversified clinical manifestations so that they are easy to be misdiagnosed and missed. This article reviews the pathogenic gene defects of actinopathies and their clinical manifestations in detail that are valuable to clinical reference.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.002primary immunodeficiency diseaseimmune-actinopathiesactin |
| spellingShingle | MA Shiyun ZHOU Lina AN Yunfei ZHAO Xiaodong Progress Research in the Immune-Actinopathies and Pathogenic Genes 罕见病研究 primary immunodeficiency disease immune-actinopathies actin |
| title | Progress Research in the Immune-Actinopathies and Pathogenic Genes |
| title_full | Progress Research in the Immune-Actinopathies and Pathogenic Genes |
| title_fullStr | Progress Research in the Immune-Actinopathies and Pathogenic Genes |
| title_full_unstemmed | Progress Research in the Immune-Actinopathies and Pathogenic Genes |
| title_short | Progress Research in the Immune-Actinopathies and Pathogenic Genes |
| title_sort | progress research in the immune actinopathies and pathogenic genes |
| topic | primary immunodeficiency disease immune-actinopathies actin |
| url | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2024.04.002 |
| work_keys_str_mv | AT mashiyun progressresearchintheimmuneactinopathiesandpathogenicgenes AT zhoulina progressresearchintheimmuneactinopathiesandpathogenicgenes AT anyunfei progressresearchintheimmuneactinopathiesandpathogenicgenes AT zhaoxiaodong progressresearchintheimmuneactinopathiesandpathogenicgenes |