Type I Interferonopathies in Childhood
Type 1 interferonopathy is a novel context reflecting a group of inborn disorders sharing common pathway disturbances. This group of diseases is characterized by autoimmunity and autoinflammation caused by an upregulation of type 1 interferons (IFN)s due to certain genetic mutations. Several feature...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Publishing House
2023-05-01
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| Series: | Balkan Medical Journal |
| Online Access: | http://www.balkanmedicaljournal.org/text.php?lang=en&id=2501 |
| _version_ | 1797828839644069888 |
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| author | Fatih Haşlak Elif Kılıç Könte Esma Aslan Sezgin Şahin Özgür Kasapçopur |
| author_facet | Fatih Haşlak Elif Kılıç Könte Esma Aslan Sezgin Şahin Özgür Kasapçopur |
| author_sort | Fatih Haşlak |
| collection | DOAJ |
| description | Type 1 interferonopathy is a novel context reflecting a group of inborn disorders sharing common pathway disturbances. This group of diseases is characterized by autoimmunity and autoinflammation caused by an upregulation of type 1 interferons (IFN)s due to certain genetic mutations. Several features are common in most of the diseases in this group, such as vasculitic skin changes, including chilblains, panniculitis, interstitial lung disease, basal ganglion calcifications, neuromotor impairments, epilepsy, stroke, and recurrent fever. Family history and consanguineous marriage are also common. IFN signature is a useful diagnostic tool and is positive in almost all patients with type 1 interferonopathies. Although IFN signature is a sensitive test, its specificity is relatively low. It can also be positive in viral infections and several connective tissue diseases. Therefore, next-generation sequence methods, whole exome sequencing (WES) in particular, are required for the ultimate diagnosis. The optimal treatment regime is still under debate due to a lack of clinical trials. Although high-dose steroids, anti-IL-1 and anti-IL-6 treatments, and reverse transcriptase inhibitors are used, JAK inhibitors are highly promising. Additionally, monoclonal antibodies against IFN-alpha and interferon-α receptor (IFNAR) are currently underway. |
| first_indexed | 2024-04-09T13:10:49Z |
| format | Article |
| id | doaj.art-ffbb95b4c662453eb480af4bcd00a6de |
| institution | Directory Open Access Journal |
| issn | 2146-3123 2146-3131 |
| language | English |
| last_indexed | 2024-04-09T13:10:49Z |
| publishDate | 2023-05-01 |
| publisher | Galenos Publishing House |
| record_format | Article |
| series | Balkan Medical Journal |
| spelling | doaj.art-ffbb95b4c662453eb480af4bcd00a6de2023-05-12T08:19:29ZengGalenos Publishing HouseBalkan Medical Journal2146-31232146-31312023-05-0140316517410.4274/balkanmedj.galenos.2023.2023-4-78Type I Interferonopathies in ChildhoodFatih Haşlak0https://orcid.org/0000-0002-6963-9668Elif Kılıç Könte1https://orcid.org/0000-0002-8174-5308Esma Aslan2https://orcid.org/0000-0002-7554-3320Sezgin Şahin3https://orcid.org/0000-0002-5365-3457Özgür Kasapçopur4https://orcid.org/0000-0002-1125-7720Department of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, TurkeyDepartment of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, TurkeyDepartment of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, TurkeyDepartment of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, TurkeyDepartment of Pediatric Rheumatology, İstanbul University-Cerrahpaşa, Cerrahpaşa Faculty of Medicine, İstanbul, TurkeyType 1 interferonopathy is a novel context reflecting a group of inborn disorders sharing common pathway disturbances. This group of diseases is characterized by autoimmunity and autoinflammation caused by an upregulation of type 1 interferons (IFN)s due to certain genetic mutations. Several features are common in most of the diseases in this group, such as vasculitic skin changes, including chilblains, panniculitis, interstitial lung disease, basal ganglion calcifications, neuromotor impairments, epilepsy, stroke, and recurrent fever. Family history and consanguineous marriage are also common. IFN signature is a useful diagnostic tool and is positive in almost all patients with type 1 interferonopathies. Although IFN signature is a sensitive test, its specificity is relatively low. It can also be positive in viral infections and several connective tissue diseases. Therefore, next-generation sequence methods, whole exome sequencing (WES) in particular, are required for the ultimate diagnosis. The optimal treatment regime is still under debate due to a lack of clinical trials. Although high-dose steroids, anti-IL-1 and anti-IL-6 treatments, and reverse transcriptase inhibitors are used, JAK inhibitors are highly promising. Additionally, monoclonal antibodies against IFN-alpha and interferon-α receptor (IFNAR) are currently underway.http://www.balkanmedicaljournal.org/text.php?lang=en&id=2501 |
| spellingShingle | Fatih Haşlak Elif Kılıç Könte Esma Aslan Sezgin Şahin Özgür Kasapçopur Type I Interferonopathies in Childhood Balkan Medical Journal |
| title | Type I Interferonopathies in Childhood |
| title_full | Type I Interferonopathies in Childhood |
| title_fullStr | Type I Interferonopathies in Childhood |
| title_full_unstemmed | Type I Interferonopathies in Childhood |
| title_short | Type I Interferonopathies in Childhood |
| title_sort | type i interferonopathies in childhood |
| url | http://www.balkanmedicaljournal.org/text.php?lang=en&id=2501 |
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