Snyder-Robinson Syndrome

Question:

5/24/2018
I have a 5 year-old male diagnosed with Snyder-Robinson Syndrome with chronic lung disease, hypotonia and history of chronic rhinitis with otherwise negative allergy skin test done a few years ago. He continues to get URI issues which triggers his lower respiratory issues of cough and wheeze. He is followed by Pulm and partially controlled on Dulera and Pulmiocort. He is also on Flonase and Xyzal to control chronic rhinitis which mom feels has helped. He has been on antibiotics a few times which helps with URI. Family is still concerned about his illnesses viral and bacterial. They are part of a support group for Snyder-Robinson Syndrome and parents are aware of a few kids in their group diagnosed with immune deficiency particularly humoral/antibody def and NEMO as well. He has normal lymphocyte counts on his CBC and I have done IgG A M which were within normal with elevated IgA and within normal range for IgG and IgM for his age. He has good antibodies to diphtheria and tetanus and I have to booster him with pneumovax last year due to low titers which has improved after booster.

1. Have you heard of reports on relationship between Snyder-Robinson Syndrome and PID particularly NEMO?
2. I am repeating his pneumo titers to address ongoing URI's, if it has decreased after just a year post booster, do you think he will benefit from IgG infusions for SAD?
3. Do you know where I can send this family who lives in VA regarding their specific questions about NEMO and Snyder-Robinson Syndrome?
4. Is there a specific person like in NIH that you would recommend for this family to see?
5. Would you recommend any specific test to check for NEMO, if yes where do I send that?