[PAGID] Interesting case

[Sullivan, John (Office of Research)]

I am in total agreement with Mary-Ellen, I think XLP would be highest on my differential list; need to get Sh2D1A gene sequenced; thanks, John.

John L Sullivan MD
Director
Office of Research
University of Massachusetts Medical School
55 Lake Avenue North
Worcester MA 01655
Phone 508-856-1572
Fax 508-856-5004
email john.sullivan at umassmed.edu

> ----------
> From: 	pagid-bounces at clinimmsoc.org on behalf of Conley, Mary-Ellen
> Reply To: 	pagid at clinimmsoc.org
> Sent: 	Thursday, October 27, 2005 2:17 PM
> To: 	pagid at clinimmsoc.org
> Subject: 	RE: [PAGID] Interesting case
> 
> 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
> 
> 
> 
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>