Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosis
Type I interferonopathies are a broad category of conditions associated with increased type I interferon gene expression and include monogenic autoinflammatory diseases and non-Mendelian autoimmune diseases such as dermatomyositis and systemic lupus erythematosus. While a wide range of clinical pres...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-08-01
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| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1169638/full |
| _version_ | 1797749052616474624 |
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| author | Samuel Gagne Vidya Sivaraman Vidya Sivaraman Shoghik Akoghlanian Shoghik Akoghlanian |
| author_facet | Samuel Gagne Vidya Sivaraman Vidya Sivaraman Shoghik Akoghlanian Shoghik Akoghlanian |
| author_sort | Samuel Gagne |
| collection | DOAJ |
| description | Type I interferonopathies are a broad category of conditions associated with increased type I interferon gene expression and include monogenic autoinflammatory diseases and non-Mendelian autoimmune diseases such as dermatomyositis and systemic lupus erythematosus. While a wide range of clinical presentations among type I interferonopathies exists, these conditions often share several clinical manifestations and implications for treatment. Presenting symptoms may mimic non-Mendelian autoimmune diseases, including vasculitis and systemic lupus erythematosus, leading to delayed or missed diagnosis. This review aims to raise awareness about the varied presentations of monogenic interferonopathies to provide early recognition and appropriate treatment to prevent irreversible damage and improve quality of life and outcomes in this unique patient population. |
| first_indexed | 2024-03-12T16:13:56Z |
| format | Article |
| id | doaj.art-e2b0001048fd407db874a21de0e9eb8d |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-03-12T16:13:56Z |
| publishDate | 2023-08-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-e2b0001048fd407db874a21de0e9eb8d2023-08-09T09:00:22ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-08-011110.3389/fped.2023.11696381169638Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosisSamuel Gagne0Vidya Sivaraman1Vidya Sivaraman2Shoghik Akoghlanian3Shoghik Akoghlanian4Division of Pediatric Rheumatology, Nationwide Children’s Hospital, Columbus, OH, United StatesDivision of Pediatric Rheumatology, Nationwide Children’s Hospital, Columbus, OH, United StatesDepartment of Pediatrics, The Ohio State University, Columbus, OH, United StatesDivision of Pediatric Rheumatology, Nationwide Children’s Hospital, Columbus, OH, United StatesDepartment of Pediatrics, The Ohio State University, Columbus, OH, United StatesType I interferonopathies are a broad category of conditions associated with increased type I interferon gene expression and include monogenic autoinflammatory diseases and non-Mendelian autoimmune diseases such as dermatomyositis and systemic lupus erythematosus. While a wide range of clinical presentations among type I interferonopathies exists, these conditions often share several clinical manifestations and implications for treatment. Presenting symptoms may mimic non-Mendelian autoimmune diseases, including vasculitis and systemic lupus erythematosus, leading to delayed or missed diagnosis. This review aims to raise awareness about the varied presentations of monogenic interferonopathies to provide early recognition and appropriate treatment to prevent irreversible damage and improve quality of life and outcomes in this unique patient population.https://www.frontiersin.org/articles/10.3389/fped.2023.1169638/fullearly-onsetvasculitisvasculopathyinterferonopathyautoinflammatorymonogenic lupus |
| spellingShingle | Samuel Gagne Vidya Sivaraman Vidya Sivaraman Shoghik Akoghlanian Shoghik Akoghlanian Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosis Frontiers in Pediatrics early-onset vasculitis vasculopathy interferonopathy autoinflammatory monogenic lupus |
| title | Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosis |
| title_full | Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosis |
| title_fullStr | Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosis |
| title_full_unstemmed | Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosis |
| title_short | Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosis |
| title_sort | interferonopathies masquerading as non mendelian autoimmune diseases pattern recognition for early diagnosis |
| topic | early-onset vasculitis vasculopathy interferonopathy autoinflammatory monogenic lupus |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1169638/full |
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