Identification and functional characterisation of a novel DNASE1L3 variant (c.572A>G, p.Asn191Ser) in three Emirati families with systemic lupus erythematosus and hypocomplementaemic urticarial vasculitis
We functionally evaluated the effect of a novel <i>DNASE1L3</i> (c.572A>G, p.Asn191Ser) in familial SLE with a consistent pattern of HUV across seven patients. This variant resulted in impaired secretion and enzymatic activity of DNASE1L3 along with increased NETosis in patients with homozygous genotype.
Authors
- Hiba Alblooshi (ORCID: https://orcid.org/0000-0002-9229-8726)
- Fatma Al‐Jasmi (ORCID: https://orcid.org/0000-0002-0792-9598)
- Praseetha Kizhakkedath (ORCID: https://orcid.org/0000-0003-2687-6476)
- Najla Aljaberi (ORCID: https://orcid.org/0000-0002-1390-7934)
- Noor Mustafa (ORCID: https://orcid.org/0000-0002-5264-302X)
- Afra Al Dhaheri
- E A Mohammed
- Mohammed Tabouni
- Ibrahim Baydoun (ORCID: https://orcid.org/0009-0009-0285-8733)
- R Gopal
- Anand Bharathan (ORCID: https://orcid.org/0009-0002-0942-1840)
- Mushal Allam (ORCID: https://orcid.org/0000-0002-9875-6716)
- Fatema Al Shibli
- Sara Alhmoudi
Institutions
- United Arab Emirates University (AE)
- Tawam Hospital (AE)
Publication Details
- Journal
- Lupus Science & Medicine
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1136/lupus-2024-001477
- Citations
- 1
- Primary Topic
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Type
- article
- Field-Weighted Citation Impact
- 0.80
Funders
- United Arab Emirates University