I sent your inquiry to Dr. Mark Ballow for his comments, and we have now received a response from Dr. Ballow, which is copied for you below.
Thank you again for your inquiry, and we hope this response is helpful to you.
Sincerely,
Phil Lieberman, M.D.
We received a response from Dr. Mark Ballow to your Ask the Expert inquiry. Thank you again for your inquiry and we hope this response is helpful to you.
Sincerely,
Phil Lieberman, M.D.
Response from Dr. Mark Ballow:
Most likely the patient has common variable immunodeficiency with two Ig isotopes more than 2 SD below normal for age. About 50% of CVID patients have a partial T-cell deficiency, and thus may have opportunistic infections or fungal infections. I would expand the immune evaluation to test for tetanus antibodies, isohemagglutinins, and lymphocyte proliferative responses to mitogens and antigens. I always get HIV testing as well if the T-cell counts are low just to rule out HIV/AIDS. With the history of cryptococcal pneumonia X-linked Hyper IgM comes to mind, but usually these patients have lower serum levels of IgG and normal or high levels of IgM.
There is a paucity of data on BM transplantation for CVID. I have not reviewed this area lately, but the issue is the degree of myeloablation and the degree of tissue matching. The Seattle group has the most experience.
Mark Ballow