[PAGID] Difficult diagnosis

[Jack Bleesing]

On the other hand, there seemed to be no problem with completing genetic studies that requires PHA stimulation.

CD45RA/RO is for me  one of the most cost-effective and quick-turnaround-time assays to distinguish OK from Bad. Whether Omenn or maternal engraftment, there will be an abnormal distribution between CD45RA and CD45RO T-cells. 

Regards, 

J

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Jack J.H. Bleesing, M.D., Ph.D.
Associate Professor of Pediatrics
Cincinnati Children's Hospital Medical Center
Division of Hematology/Oncology
3333 Burnet Avenue, MLC 7015
Cincinnati, OH 45229
513-636-4266 (phone)
513-636-3549 (fax)
Jack.Bleesing at CCHMC.org
http://www.cincinnatichildrens.org/immunodeficiencies/



>>> "Turvey, Stuart" <sturvey at cw.bc.ca> 1/15/2009 12:35:39 PM >>>

I think this Australian baby is a great case for the larger group to
consider and to ask the question what do we need to make the diagnosis
of SCID? 
 
We have a 6 month old female baby with:
-infections (candida, RSV, PCP)
-failure to thrive
-hypogammaglobulinemia and no response to tetanus vaccination
-PHA proliferative responses <10% control values
-normal lymphocyte numbers
 
For me this is consistent with autosomal recessive SCID. Important
things to do include assessment for maternal engraftment and
quantification of naive vs memory cells.
 
I wonder if others feel I am 'jumping-the-gun' and we need more data?
 
Stuart
 
Stuart Turvey MB BS DPhil
Assistant Professor
Division of Infectious and Immunological Diseases
BC Children's Hospital and Child & Family Research Institute
Rm 371
950 West 28 Avenue
Vancouver BC V5Z 4H4
Ph: 604 875 2345 x5094
Fax: 604 875 2226