[et2o]

Thanks for sharing. I’m a doctor. If you don’t mind sharing, out of curiosity how were you diagnosed with this? Not one of the primary immunodeficiencies I see tested, but I’m not a medical geneticist or pediatrician.

[FollowingTheDao]

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.

[ricksunny]

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)

[et2o]

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.