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., Frémond, M. L. & Vaglio, A. Inborn errors of immunity and AAV: a complex picture. Nat. Rev. Rheumatol. https://doi.org/10.1038/s41584-025-01299-6 (2025).

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 

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 

Belot, A. et al. Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts. Lancet Rheumatol. 2, e99–e109 (2020).

Article  PubMed  CAS  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  PubMed  CAS  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 

Yakushiji, Y. et al. Vasculitic neuropathy in a patient with hereditary C1 inhibitor deficiency. Arch. Neurol. 64, 731–733 (2007).

Article  PubMed  Google Scholar 

Triaille, C. et al. Hereditary C1q deficiency is associated with type 1 interferon-pathway activation and a high risk of central nervous system inflammation. J. Clin. Immunol. 44, 185 (2024).

Article  PubMed  PubMed Central  CAS  Google Scholar