Unraveling the Clinical Spectrum of DNASE1L3 Deficiency: Insights from Case Series and Systematic Literature Review.
Hülya Ercan Emreol, Dilara Unal, Erdal Sag et al.
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Case in brief
This case series examined four children with genetically confirmed biallelic DNASE1L3 variants, revealing a diverse clinical spectrum of immune-mediated diseases. The most common presentation was systemic lupus erythematosus (SLE), observed in 60% of patients, followed by hypocomplementaemic urticarial vasculitis and overlap phenotypes. Renal involvement was noted in 66.7% of cases, with disease onset often occurring by age 3. The findings highlight the variability in disease expression linked to DNASE1L3 deficiency.
Diagnostic / clinical pearl
Clinicians should recognize that DNASE1L3 deficiency can present with a range of immune-mediated diseases, not limited to early-onset systemic lupus erythematosus, and may include vasculitic and overlap manifestations.
Why it matters
Understanding the broad clinical spectrum associated with DNASE1L3 deficiency can aid in early diagnosis and management, as patients may exhibit varying degrees of disease severity and phenotypic expression.