Selective IgA Deficiency

[Sheila]

I'm still finding new things while going through 23andme results. I thought this was interesting:

Selective IgA Deficiency
Primary immune deficiencies are a group of disorders in which genetic defects impair the immune system's ability to function at normal levels. Although not everyone with a primary immune deficiency experiences health problems, many with the condition face an increased susceptibility to infection. For these individuals, the infections may become chronic or be especially severe. Selective IgA deficiency is characterized by especially low levels of immunoglobulin A (IgA), an antibody that helps protect the parts of our bodies that come in contact with the outside world -- our mouth, nose and throat, eyes, digestive tract, etc -- from harmful pathogens. About one person in 500 is affected, making it one of the most common primary immune deficiency diseases.

Testing marker: rs2187668
In this study, researchers compared 772 individuals with selective IgA deficiency to 1,976 people without the disease, all of European ancestry. They found that each copy of the T version of rs2187668 was associated with about 2.5 times higher odds of selective IgA deficiency. This variant is located in the HLA region of the genome, which contains many genes that play important roles in the immune system, and has also been associated with risk for celiac disease and SLE.

I have the CT version of the gene which give me substantially higher odds of selective IgA deficiency. The celiac portion of the genetic data found the HLA-DQA1 gene (the rs2187668 marker is located here), plus 2 other markers of increased odds for celiac.

Sheila W

[Kari]

Thanks for sharing this information Sheila - very interesting. I have a GI appointment at the end of this month to discuss my issues before the colonoscopy, and I want to test for selective IgA deficiency. Even though I tested positive for gluten and dairy by Enterolab, my numbers were suspiciously low in relation to the severity of my symptoms. I also discovered that I have double celiac genes:(.

Love,
Kari