@article{508d4f0a7b8f48308f179081f60e4229,
title = "Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus",
abstract = "Systemic lupus erythematosus (SLE) is a complex autoimmune disease that causes substantial morbidity. As is typical for many other multifactorial disorders, much of the heritability of SLE remains unknown. We identified a rare autosomal recessive form of SLE, in which autozygome analysis revealed a null mutation in the DNASE1L3 gene. The DNASE1L3-related SLE we describe was always pediatric in onset and correlated with a high frequency of lupus nephritis. Our findings confirm the critical role of impaired clearance of degraded DNA in SLE pathogenesis.",
author = "Al-Mayouf, {Sulaiman M.} and Asma Sunker and Reem Abdwani and Abrawi, {Safiya Al} and Fathiya Almurshedi and Nadia Alhashmi and {Al Sonbul}, Abdullah and Wafaa Sewairi and Aliya Qari and Eiman Abdallah and Mohammed Al-Owain and {Al Motywee}, Saleh and Hanan Al-Rayes and Mais Hashem and Hanif Khalak and Latifa Al-Jebali and Alkuraya, {Fowzan S.}",
note = "Funding Information: We would like to thank the families for their participation and the Genotyping and Sequencing Core Facilities at King Faisal Specialist Hospital and Research Center for their technical help. This work is supported by a Dubai Harvard Foundation for Medical Research collaborative grant (FSA).",
year = "2011",
month = dec,
doi = "10.1038/ng.975",
language = "English",
volume = "43",
pages = "1186--1188",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "12",
}