Whole Exome Sequencing in Early-onset Systemic Lupus Erythematosus.

CONCLUSION: Five patients had homozygous alterations in genes coding early complement proteins. This may lead to decreased clearance of apoptotic bodies. One patient had DNASE1L3 variant, which functions in the clearance of self-antigens. In 1 patient, we determined a novel gene that may be important in SLE pathogenesis. We suggest that monogenic causes/associations should be sought in early-onset and/or familial SLE.
PMID: 30008451 [PubMed - as supplied by publisher]

Source: J Rheumatol - July 15, 2018 Category: Rheumatology Authors: Batu ED, Koşukcu C, Taşkıran E, Sahin S, Akman S, Sözeri B, Ünsal E, Bilginer Y, Kasapcopur O, Alikaşifoğlu M, Ozen S Tags: J Rheumatol Source Type: research