[CIS-PAGID] EBV with persistent lymphopenia and chronic thrombosis

[Dr. Carsten Speckmann]

  Also in absence of a full blown HLH I would actively rule out XLP1 and 
2 (especially 2 since the phenotype is probably quite broad). A first 
step would be to look for SAP and XIAP expression and activation induced 
cell death. However, SAP/XIAP expression might be normal in case of a 
leaky condition so you would probably have to do genetics to exclude for 
sure. It is propbaly also worth to look at the degranualtion of NKs/CTLs 
to rule out a leaky FHL variant. Without previous infections or signs of 
immune dysregulation a leaky combined immunodeficiency seems rather 
unlikely (but not impossible), especially if there is evidence for 
chronic lymphopenia prior his present illness (old blood counts 
available?) I would investigate also T cell function (proliferation), T 
cell receptor repertoire and g/d expansion. If all these test are normal 
a leaky combined immunodeficiency is rather unlikely (Felgentreff et al).

Carsten Speckmann

-- 
Dr. med. Carsten Speckmann
Facharzt
Zentrum fuer Kinderheilkunde und Jugendmedizin
Centrum fuer Chronische Immundefizienz - CCI
Universitaet Freiburg
Mathildenstr. 1
79106 Freiburg
Germany

phone: +49 (0)761-270 43010
mail: carsten.speckmann at uniklinik-freiburg.de
web: www.cci.uniklinik-freiburg.de


Am 07.02.12 08:08, schrieb Terri Tarrant:

> I would appreciate any thoughtful input on the following case as to 

> whether you believe this to be chronic EBV and if further immune 

> and/or infectious disease work up should be pursued.  The patient has 

> been referred to us by Hematology/Oncology who is following him 

> closely for resolving pancytopenia, resolving lymphadenopathy, and 

> chronic vascular thrombosis of unclear etiology with no demonstration 

> to date of lymphoma or malignancy.

> The patient is a 30 yo WM who had previously been in good health until 

> 5/11 when he was admitted for several weeks of cachexia, fevers, 

> weight loss, lymphadenopathy, pancytopenia, low B12, and 

> splenomegaly.  He had been drinking heavily due to depression, and was 

> found to have EBV+ proliferation seen on lymph node biopsy and +EBV 

> viral load. HLH was not noted.  EBV IgG was positive and IgM was 

> negative at the time of hospital admission.  There was no evidence of 

> lymphoma on biopsy, and the patient's adenopathy and fevers have 

> abated over the last 9 months.  He also has increased weight gain and 

> is no longer drinking excessive EtOH.  HIV was negative, and he has 

> since had quantitative immunoglobulins (IgG=1283, IgA=161, and 

> IgM=32), which are normal.  His CBC has almost normalized now (Hct=49, 

> Plts=175, WBC total=4.0 with normal percent neutrophils but persistent 

> lymphopenia).  Dedicated flow cytometry shows normal NK cells, reduced 

> CD3+ T cells (492 cells/ul) normal CD8+ T cells (286 cells/ul), 

> reduced CD4+ T cells (206 cells/ul), and reduced CD19+ B cells (46 

> cells/ul).  He has never had recurrent infections and denies any 

> trouble with any type of viral, fungal, or bacterial infection except 

> for this recent presumed EBV infection in the last year.  PPD is 

> negative, and AFB and fungal cultures from the lymph node biopsy are 

> also negative.  There is no personal or family history of autoimmunity 

> or immunodeficiency.

>

> In 9/11, he was admitted for symptoms of LE claudication and was found 

> to have a chronic aortic thrombosis as well as a right popliteal 

> thrombosis (also thought to be chronic).  The most recent CT angiogram 

> demonstrated mural thrombus throughout the abdominal aorta with no 

> extension.  The patient also had splenomegaly of 13.6 cm.  The celiac 

> axis, SMA, renal arteries and IMA were patent.  The hypercoagulability 

> work up has largely been negative with a slightly elevated IgG 

> anticardiolipin that is now negative, IgM anticardiolipin antibody 

> negative, negative lupus inhibitor, and IgG, IgA, and IgM anti-beta 2 

> GP1 antibodies negative.  Homocysteine level was not elevated, but 

> this was drawn in September, and the B12 deficiency was being treated 

> at this time and the malnutrition and EtOH had resolved.

>

> -- 

>

> Terri Tarrant, MD

> Assistant Professor of Medicine

> Thurston Arthritis Research Center

> Lineberger Cancer Center Member

> CB # 7280, 3300 Manning Dr.

> Chapel Hill, NC 27599

> (919) 843-4727 <tel:%28919%29%20843-4727>

> http://tarc.med.unc.edu/tarrant_welcome.php

>




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