[PAGID] Interesting case

[routesj]

I agree that XLP needs to be excluded but think when it is said and done the
diagnosis will be CVID
Jack Routes
-- 
John M. Routes, M.D.
Associate Faculty Member
National Jewish Medical Research Center
Associate Professor of Medicine and Immunology
University of Colorado Health Sciences Center

Address: 1400 Jackson St.; Denver, CO 80206
Phone: 303-398-1291;  FAX: 303-398-1806;  email: routesj at njc.org



> From: "Sullivan, John  (Office of Research)" <John.Sullivan at umassmed.edu>
> Reply-To: pagid at clinimmsoc.org
> Date: Thu, 27 Oct 2005 15:05:39 -0400
> To: pagid at clinimmsoc.org
> Subject: RE: [PAGID] Interesting case
> 
> 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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