C2 gene deletion as possible source of immune deficiency

Dear National Jewish Hospital,

I’ve been trying to get to the source of a primary immune deficiency that affects both my son and I.

Researchers at CHOP discovered that we share a C2 gene deletion, so a few days ago, my son David Noah, had blood sent to your lab for C2 and C3 function testing.

Depending on the results of these tests, I was wondering what the next step would be. David Noah and I have had a lot of strange results to different immune studies, but nothing has pointed definitely to the answer.

For example, David Noah had a strange result to the ALPS test that was done at Cincinnati Immunology lab. He did not test positive to that disorder, but he didn’t have a normal result either. Every equation with a C3 was not a normal result. We also had a strange result to the Wiscot-Aldrich test. (Neutrophils were below normal).

We’ve also had low natural killer cells, but not dramatically low (sometimes just below normal), same with T cell results. Some of our complement blood tests have been abnormal (I can’t remember which ones). David Noah has also had to have extra pneumococcal vaccines because his levels drop faster than normal.

David Noah is currently on daily antibiotics due to reoccurring infections, particularly sinus and skin infections, and my health problems are too extensive to list in one email, but they involve both autoimmune and infection problems (countless hospitalizations) dating back to when I was born.

Notably, we get infections and we don’t create an elevated WBC or a fever. Our WBC does rise a little–meaning, our immune system is responding to an infection–but it just goes up to 6-8, versus normally being around 4 (and sometimes even lower).

After reviewing your website, it seems like your hospital is very invested into rare immune deficiencies, partly complement disorders, so I’m excited to get the results of his C2 and C3 function test that were sent by Dr. Wong/UCLA last week.

If you have further questions, you can contact me, or David Noahs pediatrician Dr. Lauren Crosby 310-652-5004, she is very familiar with our case.

Thank you very much for your time, it’s been a long journey. I really appreciate your help.

Warmly,
Tara

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