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by FollowingTheDao 1071 days ago
Hey doc. Well, I had consistently low WBC counts (leukopenia), skin infections, sinus infections, lung infections (and nodules), as well as recurrent fungal infections. Doctors offered no explanation.

In 2014 I had my genome run on 23andMe and through digging and getting a second genome run I confirmed that I was homozygous for rs1049564 (and other SNPs) in my PNP gene.

I was finally able to push for a PNP activity test which revealed low activity. I do not think the doctors would have ever tested for this.

Here is the paper that persuaded them to do the test: https://www.researchgate.net/figure/Purine-nucleoside-phosph...

Since it is only a partial deficiency it did not cause catastrophic effects as a child, but as I got older it became worse.

Here is a paper talking about the partial deficiency: https://pubmed.ncbi.nlm.nih.gov/32695102/

I also have neurological issues (mood disorder) that I blame on the same deficiency.
2 comments
ricksunny 1071 days ago
Wow. I applaud this effort.

Been working on studying pharmacogenetics / pharmacogenomics / toxicogenomics focused on phenols such as catechins in tea. (Activity 'C' of https://docs.google.com/document/d/11f2bzMRbAgCJyoaEmxXKVytl... )

Would love to understand how you researched this, as locating relevant research literature has been challenging.

(updating my user page with contact)

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FollowingTheDao 1071 days ago
Hey Rick, it took a lot of time and a lot of emails to people researching the topic. But the key was the doctor's constantly diagnosing me and then diagnosing me with Lupus. Finding the link with Lupus and PNP SNPs was the key. The Lupus diagnosis was always back and forth because apparently PNP deficiency lowers immunoglobulin levels as well and that is the test that gets you in the door to the rheum only when it is high.

Many other phenol's and polyphenols seem to give me issues as well.

Also, you might take a look at the interaction between riboflavin and catechins. There is something going on there I do not quite understand:

https://www.mdpi.com/1422-0067/9/10/1908

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6837740/

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et2o 1071 days ago
Fascinating. Thank you for sharing. I’m glad you were able to arrive at a diagnosis. I’m sorry to hear it was such an odyssey. I wonder how many other patients like you we are missing.
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