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.
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.
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)
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: