APS-1 interesting find

I just came across this article. It doesn't really explain what APS-1 is in detail, but the gene mutation stuff is interesting. The reason I'm posting it here is this bit, which I thought might be of interest:

"They found that dominant mutations were present in several individuals and families suffering from various forms of organ-specific autoimmunity, resulting in symptoms such as depigmented skin and low blood levels of vitamin B12."


5 Replies

  • This is really interesting as I developed some pigment loss about a year or 2 before discovering B12 deficiency

  • It's annoying that it doesn't tell you what the AIRE mutations actually are, by way of diseases, and what those autoimmune clusters are, in practice. Also, can you imagine trying to get the NHS to test for these gene mutations? Anyone like to run a book on how many docs have actually HEARD of them or know the first thing about them?

    No, you'd be on your own, I think, and I imagine you'd have to have the testing done in the US. I'm contemplating coeliac gene testing and having to get that done in the states because no-one here offers it.

    But it's a really interesting article - thanks for posting, Galaxie. Just wish it wasn't such a tease!

  • regeneruslabs.com/pub/cyrex...

    Gluten testing done in the UK - previously only done by Cyrex Labs in the States. Think we have had this conversation before !!

  • Thanks, Marz. I have already spoken to Regenerus, but they told me the blood/s would have to be sent to the US for testing, even although they are based here. I got the impression they just have an office here, which maybe does the basic testing, but the posh stuff, like coeliac gene testing, is still being sent to the US, it would appear. Certainly, the price sounds like a straight dollar 'conversion'. It's not cheap.

    But I had yet another go at getting an IgG test with my doc. This is my third (or fourth?) attempt. We now have a name to send it to, and we sent only that on the form, so there is no way they can wriggle out of it or get it wrong - you'd think, but as my partner said, "We should get the results of your Mumps test any day now".

    If I don't get it, yet again, I'm giving up. If I can't bring myself to pay for gene testing, I'll just do the cheapskate version and go for an elimination diet. But truthfully, I'd rather know. If I had one of the coeliac genes I'd just quit gluten for good, regardless of whether I had the disease or not. No point in risking it.

  • Actually, having written all that, I'm not sure Cyrex or Regenerus even does the gene test. I think their gluten array is for all the IgG and IgA autoimmune testing, not genetic. Either way, the Regenerus site STILL doesn't seem to be up and running yet. Certainly their search engine is useless. I know I had to do everything by email. Just off to try and find who the hell it is is offering the gene testing now!

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