Why the study?
Although most patients with DNASE1L3 deficiency present with early-onset SLE, whether emerging vasculitic and overlap manifestations represent distinct clinical entities or a continuum of immune dysregulation remained unclear. This study aimed to define the clinical spectrum of DNASE1L3 deficiency and examine the relationship between recurrent pathogenic variants and disease severity.
Systematic Review (n=49)
No
DNASE1L3 deficiency manifests across a broad clinical spectrum of immune-mediated disease, and the presence of identical pathogenic variants across varying severity states indicates that additional modifiers influence disease expression beyond a simple genotype-phenotype model.
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Bajaj et al. (2026) conducted a systematic review in DNASE1L3 deficiency (n=49). Biallelic pathogenic DNASE1L3 variants was evaluated on SLE-dominant disease phenotype.
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