[PAGID] Difficult diagnosis

[raas0027 at umn.edu]

Stuart,

Thank you for summing up the case. It makes for good discussion for all of 
us and I hope there are trainees/fellows who are 'listening in'.

I agree and do not think you are jumping the gun. SCID should be a primary 
consideration. Jack and Gigi have taught me the importance and utility of 
the CD45RA/RO in these case to determine 'OK from bad'.

Also agree with checking for maternal engraftment, IgE, Tcell reptoire. 
Activation markers would be interesting.

What about eosinophilia in this child?  Family history?

It has been great to hear from some of you about the variable phenotypes 
found in patients with RAG1/RAG2 mutations. This may be a consideration 
down the line depending on other lab studies.

Regards,

Jason

Jason P. Raasch, MD

Midwest Immunology Clinic
2805 Campus Drive, #215
Plymouth, MN 55441

Office: 763.577.0008
FAX: 763.577.0192
raas0027 at umn.edu

Children's Hospitals and Clinics of Minnesota




On Jan 15 2009, Turvey, Stuart 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

>

>


-- 


Jason P. Raasch, MD

Midwest Immunology Clinic
2805 Campus Drive, #215
Plymouth, MN 55441

Office: 763.577.0008
FAX: 763.577.0192
raas0027 at umn.edu