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dc.contributor.authorKASAPÇOPUR, ÖZGÜR
dc.contributor.authorHaslak, Fatih
dc.contributor.authorKonte, Elif Kilic
dc.contributor.authorASLAN, ESMA
dc.contributor.authorŞAHİN, SEZGİN
dc.date.accessioned2023-10-10T12:54:50Z
dc.date.available2023-10-10T12:54:50Z
dc.date.issued2023
dc.identifier.citationHaslak F., Konte E. K., ASLAN E., ŞAHİN S., KASAPÇOPUR Ö., "Type I Interferonopathies in Childhood", BALKAN MEDICAL JOURNAL, cilt.40, sa.3, ss.165-174, 2023
dc.identifier.issn2146-3123
dc.identifier.otherav_2844c3ee-f3f3-47f0-a32e-7839adb4a75d
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/190323
dc.identifier.urihttps://avesis.istanbul.edu.tr/api/publication/2844c3ee-f3f3-47f0-a32e-7839adb4a75d/file
dc.identifier.urihttps://doi.org/10.4274/balkanmedj.galenos.2023.2023-4-78
dc.description.abstractType 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-alpha receptor (IFNAR) are currently underway.
dc.language.isoeng
dc.subjectGenel Sağlık Meslekleri
dc.subjectTIP, GENEL & DAHİLİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectTemel Tıp Bilimleri
dc.subjectPatofizyoloji
dc.subjectTemel Bilgi ve Beceriler
dc.subjectDeğerlendirme ve Teşhis
dc.subjectDahiliye
dc.subjectAile Sağlığı
dc.subjectTıp (çeşitli)
dc.subjectGenel Tıp
dc.titleType I Interferonopathies in Childhood
dc.typeMakale
dc.relation.journalBALKAN MEDICAL JOURNAL
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume40
dc.identifier.issue3
dc.identifier.startpage165
dc.identifier.endpage174
dc.contributor.firstauthorID4313099


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