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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.
Garvan Authors Prof Stuart Tangye
Publisher Name J CLIN INVEST
Published Date 2016-11-01 00:00:00
Published Volume 126
Published Issue 11
Published Pages 4065-4067
URL http://www.ncbi.nlm.nih.gov/pubmed/27760052
Status Published in-print