Proteasomal diseases are a new branch of autoinflammatory pathology
The paper deals with a new autoinflammatory disease entity that is proteasomal diseases. The latter include three nosological entities: Nakajo–Nishimura syndrome (NNS), Japanese autoinflammatory syndrome with lipodystrophy; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated tem...
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| Format: | Article |
| Language: | Russian |
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IMA-PRESS LLC
2013-12-01
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| Series: | Современная ревматология |
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| Online Access: | https://mrj.ima-press.net/mrj/article/view/525 |
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| author | Evgeny Stanislavovich Fedorov |
| author_facet | Evgeny Stanislavovich Fedorov |
| author_sort | Evgeny Stanislavovich Fedorov |
| collection | DOAJ |
| description | The paper deals with a new autoinflammatory disease entity that is proteasomal diseases. The latter include three nosological entities: Nakajo–Nishimura syndrome (NNS), Japanese autoinflammatory syndrome with lipodystrophy; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE syndrome); joint contractures, muscular atrophy, microcytic anemia, and panniculitisinduced lipodystrophy (JMP syndrome). All the three conditions are caused by mutations in one PSMB8 gene encoding the immunoproteasome subunit β5i. Unlike other autoinflammatory syndromes that are mainly IL-1-dependent, the leading component of the pathogenesis of these diseases is IL-6/γ−interferonі system hyperactivation. These diseases are characterized by childhoodonset, retarded physical development, different skin and muscular lesions, lipodystrophy, joint contractures, and hypochromic anemia, as well as elevated levels of acutephase markers; autoimmune disorders may joint in time. |
| format | Article |
| id | doaj-art-83cc0ecb842e408ca198ca3eb97535d5 |
| institution | Kabale University |
| issn | 1996-7012 2310-158X |
| language | Russian |
| publishDate | 2013-12-01 |
| publisher | IMA-PRESS LLC |
| record_format | Article |
| series | Современная ревматология |
| spelling | doaj-art-83cc0ecb842e408ca198ca3eb97535d52025-08-20T03:59:57ZrusIMA-PRESS LLCСовременная ревматология1996-70122310-158X2013-12-0174384610.14412/1996-7012-2013-24371830Proteasomal diseases are a new branch of autoinflammatory pathologyEvgeny Stanislavovich Fedorov0V.A. Nasonova Research Institute of Rheumatology, Russian Academy of Medical Sciences, MoscowThe paper deals with a new autoinflammatory disease entity that is proteasomal diseases. The latter include three nosological entities: Nakajo–Nishimura syndrome (NNS), Japanese autoinflammatory syndrome with lipodystrophy; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE syndrome); joint contractures, muscular atrophy, microcytic anemia, and panniculitisinduced lipodystrophy (JMP syndrome). All the three conditions are caused by mutations in one PSMB8 gene encoding the immunoproteasome subunit β5i. Unlike other autoinflammatory syndromes that are mainly IL-1-dependent, the leading component of the pathogenesis of these diseases is IL-6/γ−interferonі system hyperactivation. These diseases are characterized by childhoodonset, retarded physical development, different skin and muscular lesions, lipodystrophy, joint contractures, and hypochromic anemia, as well as elevated levels of acutephase markers; autoimmune disorders may joint in time.https://mrj.ima-press.net/mrj/article/view/525autoinflammatory diseasesproteasomeslipodystrophyjoint contractures |
| spellingShingle | Evgeny Stanislavovich Fedorov Proteasomal diseases are a new branch of autoinflammatory pathology Современная ревматология autoinflammatory diseases proteasomes lipodystrophy joint contractures |
| title | Proteasomal diseases are a new branch of autoinflammatory pathology |
| title_full | Proteasomal diseases are a new branch of autoinflammatory pathology |
| title_fullStr | Proteasomal diseases are a new branch of autoinflammatory pathology |
| title_full_unstemmed | Proteasomal diseases are a new branch of autoinflammatory pathology |
| title_short | Proteasomal diseases are a new branch of autoinflammatory pathology |
| title_sort | proteasomal diseases are a new branch of autoinflammatory pathology |
| topic | autoinflammatory diseases proteasomes lipodystrophy joint contractures |
| url | https://mrj.ima-press.net/mrj/article/view/525 |
| work_keys_str_mv | AT evgenystanislavovichfedorov proteasomaldiseasesareanewbranchofautoinflammatorypathology |