Gül, A. et al. The pathogenesis, clinical presentations and treatment of monogenic systemic vasculitis. Nat. Rev. Rheumatol. 21, 414–425 (2025).

Article  PubMed  Google Scholar 

Triaille, C. et al. The emerging concept of ANCA-associated vasculitis related to inborn errors of immunity. Autoimmun Rev. 24, 103824 (2025).

Article  CAS  PubMed  Google Scholar 

Volpi, S. et al. Lupus nephritis patterns and response to type I interferon in patients with DNASE1L3 variants: report of three cases. Am. J. Kidney Dis. 84, 791–797 (2024).

Article  CAS  PubMed  Google Scholar 

Tusseau, M. et al. DNASE1L3 deficiency, new phenotypes, and evidence for a transient type I IFN signaling. J. Clin. Immunol. 42, 1310–1320 (2022).

Article  CAS  PubMed  Google Scholar 

Abdwani, R., Mal, M. J., Masroori, E., Jaju, S. & Al Abrawi, S. A deep dive into monogenic lupus: insights on DNASE1L3 mutation. Rheumatology 64, 4331–4334 (2025).

Article  PubMed  Google Scholar 

Zhang, X. et al. Activated phosphoinositide 3-kinase delta syndrome misdiagnosed as anti-neutrophil cytoplasmic antibody-associated vasculitis: a case report. J. Int. Med. Res. 49, 3000605211013222 (2021).

Article  PubMed  Google Scholar 

Lu, M., Gu, W., Sheng, Y., Wang, J. & Xu, X. Case report: activating PIK3CD mutation in patients presenting with granulomatosis with polyangiitis. Front. Immunol. 12, 670312 (2021).

Article  CAS  PubMed  PubMed Central  Google Scholar 

Zhao, P. et al. Activated phosphoinositide 3-kinase delta syndrome caused by PIK3CD mutations: expanding the phenotype. Pediatr. Rheumatol. Online J. 22, 24 (2024).

Article  PubMed  PubMed Central  Google Scholar