An Autoimmune Disease : A Common Cause Of Death For Young Women

3326 WordsOct 14, 201414 Pages
Approximately 3% of all women currently have an autoimmune disease which they would not have got if they were born a man. Additionally, autoimmunity is a common cause of death for young women, but not men. Here, a thought experiment is presented which leads to a mechanism and gene (DDX3X) which contributes to this female bias. That is, this bias is not due to mutations on the X chromosome, but instead due at least in part to a woman’s naturally higher DDX3X dose. Exome sequencing of the X chromosome in 74 lupus patients was consistent with this thought experiment, as no obvious mutations were found for lupus; one of the most female biased autoimmune diseases. However, a rare DDX3X mutation was found in a young lupus patient (RR=29 (1.2-313 ), P=0.044) with early onset autoimmune thyroiditis (RR=436 (18-3,743), P=0.0031). Independent of autoimmunity, DDX3X represents a fundamental difference between males and females. We encourage researchers to investigate the extent to which DDX3X contributes to the many differences between male and female immune responses and pursue the utility in this knowledge. Introduction Autoimmune diseases are a common problem. They affect approximately 1 in 20 people and produce a wide array of symptoms which are often chronic.1 They are caused by the immune system attacking the body; mistaking it for a pathogen. Treatments are limited and generally include non-specific immune suppression. They can be inherited, but have low
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