[PAGID] Difficult diagnosis

[Chris Seroogy]

I think another important test to include in the work up would be TREC
analysis.

Chris


Chris Seroogy, M.D.

University of Wisconsin

Assistant Professor

Dept. of Pediatrics

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On 1/15/09 11:35 AM, "Turvey, Stuart" <sturvey at cw.bc.ca> wrote:


> 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

> 

> 



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