[CIS PIDD] [cis-pidd] CMV, CD4 lymphopenia, adenopathy, nephritis....

[David Buchbinder]

Dear Colleagues,
 
I wanted to see if anybody has any suggestions with respect to the case
below with respect to additional diagnostic work up or suggestions for
targeted sequencing for some of the more novel immune dysregulation
syndromes (e.g. PI3KCD, etc.).  
 
We have a 7 year old previously healthy male who originally presented
with abdominal pain and pancreatitis. 
 
Imaging documented a lung nodule retroperitoneal mass as well as
diffuse mesenteric  and retroperitoneal adenopathy.
 
Pathologic examination documented CMV inclusions on the lung biopsy and
retroperitoneal mass.  He was treated with ganciclovir.  There was a
lymphocytic infiltrate present (largely T cells) and some eosinophils. 
No IgG4 plasma cells were noted.   He developed chylous ascites and
chylothorax which resolved.
 
Most recently he came in with fevers, night sweats, and swelling.   Due
to concerns of renal insufficiency a biopsy was obtained.  It
demonstrated acute tubulo-interstital nephritis.  The intersitium
demonstrate lots of lymphocytes, macrophages, eosinophils, and few
plasma cells.  Immunostains for CMV (and EBV) were negative.  We also
biopsied the mesenteric / retroperitoneal adenopathy.  There was
lymphohistiocytic infiltrate (largely T cells and histiocytes).  No
malignancy. 
 
His immunoglobulin levels are relatively unremarkable - IgE 229, IgA
132, IgG 1164, IgM 38 although his IgM is a bit low. 
His lymphocyte panel demonstrates a slightly reduced number of B cells
146 / uL and NK cells 56 / uL.  His CD3 and CD8 numbers are fine.  
His CD4 numbers are low at 180 / uL.  Naïve CD4 and  CD8 percentages
are low  (8.1% and 23% respectively).    CD4 cells have slightly
decreased expression of TCR alpha/beta (80%).
Mitogens were generally normal with some decreased Ag specific
responses.  
NK cytotoxicity was normal.  
Some limited genetic analysis (e.g. NGS SCID panel) was done and
negative. 
 
Thanks as always....
 
Dave Buchbinder
CHOC Children's - UC Irvine
 


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