[PAGID] Interesting case

[Lisa Filipovich]

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

I just saw a 18 yo with diagnosis of red cell aplasia and
hypogammaglobulinemia diagnosed at age 14.  He was never sick prior to
age 14 and no family history of immunodeficiency.  Red cell aplasia
responded to cyclosporin and EPO in past. Over summer was taken off
meds
as hemoglobin was too high.  He became anemic again and is getting
blood
transfusions every 3 weeks despite back on CSA and EPO.   Pt on IVIG
for
2 years.  Pt also with daily fevers for 2 months.  He has enlarged
liver
and spleen.  Seen by multiple hematologists, rheumatologists, and
immunologists with no diagnosis. History of purpuric rash on lower ext
2
years ago, bx consistent with vasculitis.

Labs: WBC 7, Hgb after pRBC 10, Plt 229, PMN 33 LYM 52, Mono 12, low
retic count 

Albumin 3.6 - low normal, CH 50 - high, C3 and C4 normal, UA normal 

LFT's mildly elevated twice normal but normal alk phos

IgA 29, IgG 393 on IVIG, IgM 13

Flow Studies
ABS B lymph count 25 (80-500)
ABS CD8 count 1617 (157-813)
CD56 3
CD19 1
CD3 96
CD4 22
CD8 72
ABS CD4 487
ABS T lymph 2156
ABS CD56 72 (140-440)
CD4:CD8 0.3

Mitogens pending
EBV PCR pending

(I am assuming in past vaccine titers prior to IVIG and parvovirus
were
looked for, but currently I don't have that info)

Bone Marrow BX
- Red cell hypoplasia, marked.
- Hypercellular marrow (approximately 90% cellularity) with:
- Predominance of myeloid precursors with complete maturation.
 - Scant numbers of erythroid precursors with incomplete maturation.
- M:E ratio is estimated at greater than 20:1.
- Megakaryocytes appear increased in number.
- No lymphoma, granulomatous inflammation or metastatic tumor
identified

I saw a case of XLP in the literature similiar to this with red cell
aplasia, decreased CD4:CD8 ratio, hypogam, and undetectable B cells in
circulation.  Can you give me your opinion?

Thank you,

Paul Ogershok MD
pogershok at hsc.wvu.edu 
Fellow Allergy/Immunology
West Virginia Univ. School of Medicine