[PAGID] Difficult diagnosis

[Jane Peake]

Thank you everyone for your suggestions. I originally thought that this
child had SCID in view of history and when had virtually complete
absence of T cell proliferation with first test but was troubled by the
fairly normal distribution of lymphocytes - told the parents that,
started work up looking for donors (first child) for BMT etc however
repeat T cell function found that had T cell function that was
diminished but certainly far from absent. WRT the cells being maternal
or baby, we are trying to get the Vb distribution done but Tc gene
rearrangements showed polyclonal DNA. We are in process of organising
TRECs and activation markers (not done locally). No family history, no
eosinophilia, no IgE. Development is completely normal. At present I
have her on IVIg and prophylactic antibiotics and antifungals but don't
feel can proceed to BMT in the absence of a more definitive diagnosis.

Will let you know further info when it is to hand

Thanks again

Jane 

 

Dr Jane Peake 
Senior Lecturer 
Paediatric Immunologist and Allergist 
Department of Paediatrics and Child Health 
University of Queensland 
Level 3 RCH Foundation Building 
Royal Children's Hospital 
Herston Rd 
Herston QLD 4029 
AUSTRALIA 
Tel: (61 7) 33 65 53 33 
Fax: (61 7) 33 65 54 55 

________________________________

From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Turvey, Stuart
Sent: Friday, 16 January 2009 3:36 AM
To: pagid at list.clinimmsoc.org
Subject: Re: [PAGID] Difficult diagnosis

 

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

 

-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/mailman/private/pagid/attachments/20090120/bbaad9b1/attachment.html>