[PAGID] ? XLA

[Lisa Kobrynski, MD, MPH]

I would like to get some suggestions regarding a patient.
This 4 month old male presented with respiratory distress, RSV -, and
deteriorated to the point of going on a high frequency ventilator.  He improved
slightly on Bactrim, but really began to turn around on Pentamidine.
He had neonatal ITP,thought to be due to maternal alloantibody, which resolved
by one month of age.

IgG 122, IgM 325, IgA <7. White blood cell counts have been low  3,000-5,000.
CD40L and CD40expression are normal. Flow shows  88% CD3, 1% CD19 and 10% NK.
Absolute CD3 1247, CD19 14.  He has good mitogen responses, no response to
antigens.

With normal CD40L and CD40 expression does this rule out HIGM?
Could he have some partial expression of btk?
Or could this be an AR SCID?
Thanks for your input.


Lisa Kobrynski, MD, MPH
Assistant Professor of Pediatrics
Division of Allergy and Immunology
Emory University
404-727-3575
404-727-5045 (fax)