1/9/2013
15 months old male diagnosed with 14q chromosomal deletion presenting with recurrent URI/Viral illness. Recently admitted for pneumonia and Viral gastro with dehydration. His B and T cells numbers were normal except for slight decrease in CD8 with normal T cell function (sent to Duke Labs) he has initial decrease in IgG, A, M which has improved and normalized after 6 months. His geneticist states that he has an abnormality on OMIM 164008 which can have associations with NFKB mutations such as those seen in ectodermal dysplasia. The child is dysmorphic but with good hair growth and normal appearing teeth. Do I need to work up for ED in view of this genetic abnormality? In view of his normal labs as above what should I order for NFKB testing?

Thank you for your inquiry.

I am going to ask Dr. Rebecca Buckley, an internationally known expert in immunodeficiency disorders at Duke to respond to your inquiry. When we hear from Dr. Buckley, we will forward her comments to you.

Thank you again for your inquiry.

Sincerely,
Phil Lieberman, M.D.

We recently sent your inquiry to Dr. Rebecca Buckley as mentioned, and she kindly referred us to Dr. Jordan Orange, who responded to your inquiry.  His response is noted below.

As you can see, there are laboratories, as mentioned, who can perform a targeted exome sequence for you, and in further consultation, he suggested Dr. Doug MacDonald, who is at Harvard, or Dr. Casanova, who is at the Rockefeller Institute.  

Thank you again for your inquiry.

Sincerely,
Phil Lieberman, M.D.

Response from Dr. Jordan Orange:
This would be best addressed by targeted exome sequence as performed by ARUP, Baylor, GeneDx or others. Just let them know what you are looking for.

For academic collaborative approaches I would suggest Doug Macdonald in the Geha group – Harvard
the Casanova Lab - Rockefeller

Both have performed analysis of this gene.

Best,
Jordan Orange MD, PhD