[PAGID] Interesting case

[K. Scott Baker]

Sorry everyone, my earlier reply was in regards to a different email. 

K. Scott Baker, MD, MS
Pediatric Blood and Marrow Transplant Program
University of Minnesota
420 Delaware St. SE, Mayo Bldg. Room D557
Mayo Mail Code 484
Minneapolis, MN 55455
612.625.4952  FAX 612.626.1434
baker084 at tc.umn.edu


-----Original Message-----
From: pagid-bounces at clinimmsoc.org [mailto:pagid-bounces at clinimmsoc.org]
On Behalf Of K. Scott Baker
Sent: Friday, October 28, 2005 11:42 AM
To: pagid at clinimmsoc.org
Subject: RE: [PAGID] Interesting case


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