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Review
. 2023 Aug 9:11:1169638.
doi: 10.3389/fped.2023.1169638. eCollection 2023.

Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosis

Samuel Gagne  1 , Vidya Sivaraman  1   2 , Shoghik Akoghlanian  1   2
Affiliations
Review

Interferonopathies masquerading as non-Mendelian autoimmune diseases: pattern recognition for early diagnosis

Samuel Gagne et al. Front Pediatr. .

Abstract

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.

Keywords: autoinflammatory; early-onset; interferonopathy; monogenic lupus; vasculitis; vasculopathy.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.

Figures

Figure 1
Figure 1
Renal infarct in an infant with DADA2. Severe narrowing and proximal left common iliac artery occlusion at the bifurcation. Fusiform, aneurysmal dilation of the mid to distal superior mesenteric artery segment. Renal artery and kidney are absent.
See this image and copyright information in PMC

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