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- Title
Type I Interferonopathies in Childhood.
- Authors
Haşlak, Fatih; Könte, Elif Kılıç; Aslan, Esma; Şahin, Sezgin; Kasapçopur, Özgür
- Abstract
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.
- Subjects
SEQUENCE analysis; GENETIC mutation; GENETIC testing; AICARDI-Goutieres syndrome; GENETIC techniques; SYSTEMIC lupus erythematosus; AUTOINFLAMMATORY diseases
- Publication
Balkan Medical Journal, 2023, Vol 40, Issue 3, p165
- ISSN
2146-3123
- Publication type
Article
- DOI
10.4274/balkanmedj.galenos.2023.2023-4-78