[PAGID] Difficult diagnosis

[Turvey, Stuart]

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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