Got a phone call from the immunologist today. The results of the genetic test are back in, and the Bruton’s (or X-linked) agammaglobulinemia has been switched to common variable immune deficiency. I lack the mutations in the gene that causes the XLA, and although that I am presenting like XLA there are mutations in the genome that are indicative of the CVID.
I will admit, this is somewhat of a relief. While the genetic inheritance of CVID isn’t known for 100% fact, what is known is that it’s autosomal and not sex-linked. Making the chances of passing it on to my son slim to none.
That is an enormous relief. I’m still having Baby Imp do an immunoglobulin assay at her 6-month check up just in case, and I notified her brother’s father. We’ll see what he does about it, but whatevs I’ve done what I need to do, it’s completely out of my hands now on that front.
I’m also relieved that I now have a definite name for it. I’ve been calling it XLA since that was how my labs were presenting – deficient in all immunoglobulin classes, no mature B cells and it was unknown if I was making Bruton’s tyrosine kinase. I don’t know if they’re going to do another BTK test and quite frankly, I think it would be a lost cause since the genes that code for BTK are just fine.
I guess though that it begs the question: what else contributes to the maturation process of B cells? I’m sure there are more enzymes that do, I just don’t know what they’re called or even if we know about them. What else is causing this?
I’m having the results emailed to me, and I will be requesting the results from all other labs when I’m in the immunologist’s office here in a few weeks. I want to look over them to see for myself what’s up.
Now’s the time I’m glad I’m a molecular biology/biochemistry major. 🙂