[PAGID] Interesting case

[K. Scott Baker]

Have katie or paul see on monday.

-----Original Message-----
From:  Lisa Filipovich
Date:  10/28/05 8:40 am
To:  pagid at clinimmsoc.org, maryellen.conley at STJUDE.ORG
Subj:  RE: [PAGID] Interesting case

Paul
I agree with the comments from Mary Ellen and John. Suspicious for XLP
(some patients have been described to lose B cells as they age).To
access SAP expression testing you may call 513-636-4769. The results are
ready within 24 hours.
Take care, Lisa

>>> maryellen.conley at STJUDE.ORG 10/27/05 2:17 PM >>>
Hi Paul,
I think your case presents a really interesting differential
diagnosis.

XLP - I agree with you that this is a real possibility.  I have seen
patients with mutation proven XLP who have low B cell numbers and
hypogamma in the absence of EBV infection.  However, the reversed
CD4/CD8 ratio goes along with persistent EBV.  The vasculitis could
fit
with XLP too.  You should look for EBV by PCR and I think you should
look for the SAP protein and/or do mutation detection.

CD40 ligand deficiency-  Some patients with CD40 ligand deficiency
have
been asymptomatic until they develop severe, persistent anemia that is
ultimately found to be due to parvovirus (parvo 19).  I think you
should
look for parvo virus.  The low B cell numbers would not go with the
diagnosis of CD40L -so, if the parvo is negative, I don't think I
would
pursue CD40L.

XLA - The low B cell numbers certainly make this a possibility but the
late onset, vasculitis and anemia would be very atypical.  Also, most
labs report less than 1% B cells in patients with XLA.

Thymoma - I agree with you that the normal radiologic studies make
this
unlikely - also I think he is very young for this diagnosis

CVID - this should be considered a diagnosis of exclusion.

In summary - I think I'd look for XLP first but I would be interested
in
what other people think.
Mary Ellen




Mary Ellen Conley, MD
Department of Immunology
St. Jude Children's Research Hospital
332 N. Lauderdale
Memphis, TN 38105-2794
FAX  901-495-3977
TEL  901-495-2576


-----Original Message-----
From: pagid-bounces at clinimmsoc.org
[mailto:pagid-bounces at clinimmsoc.org] 
On Behalf Of Paul Ogershok
Sent: Wednesday, October 26, 2005 3:41 PM
To: pagid at clinimmsoc.org 
Subject: [PAGID] Interesting case