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Genetic cause of immune dysregulation - one gene or two?

Abstract

Some autoimmune disorders are monogenetic diseases; however, clinical manifestations among individuals vary, despite the presence of identical mutations in the disease-causing gene. In this issue of the JCI, Massaad and colleagues characterized a seemingly monogenic autoimmune disorder in a family that was linked to homozygous loss-of-function mutations in the gene encoding the endonuclease Nei endonuclease VIII-like 3 (NEIL3), which has not been previously associated with autoimmunity. The identification of an unrelated healthy individual with the same homozygous mutation spurred more in-depth analysis of the data and revealed the presence of a second mutation in a known autoimmune-associated gene. Animals lacking Neil3 had no overt phenotype, but were predisposed to autoantibody production and nephritis following exposure to the TLR3 ligand poly(I:C). Together, these results support further evaluation of the drivers of autoimmunity in supposedly monogenic disorders.

Type Journal
Authors Tangye, S. G.
Responsible Garvan Author Prof Stuart Tangye
Publisher Name JOURNAL OF CLINICAL INVESTIGATION
Published Date 2016-11-01
Published Volume 126
Published Issue 11
Published Pages 4065-4067
Status Published in-print
URL link to publisher's version http://www.ncbi.nlm.nih.gov/pubmed/27760052
OpenAccess link to author's accepted manuscript version https://publications.gimr.garvan.org.au/open-access/13527