[PAGID] ? XLA

[Jordan Orange]

Dear Lisa,

Are the T cells naive?

Also, do keep NEMO in mind...
A subset truly do appear to have a HIGM phenotype (mostly c-terminus 
mutations).  B cells in a few patients have been on the low side.  CD40 
and CD40L expression (at least in the patients I have studied) is 
normal and mitogen responses are generally intact.
Pneumocystis has occurred in a few.

Very best,

Jordan

Jordan Orange MD/PhD
Assistant Professor of Pediatrics
University of Pennsylvania School of Medicine
Children's Hospital of Philadelphia, Division of Immunology
3615 Civic Center Blvd,  ARC-1016H
Philadelphia, PA 19104
(Voice) 267-426-5622
(Fax) 267-426-5727
www.orangelab.org

On Jan 25, 2007, at 4:47 PM, Lisa Kobrynski, MD, MPH wrote:


> 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)

>