[PAGID] MGUS and primary immunodeficiency

[Chris Seroogy]

Dear Colleagues,

I was asked to see a teenage boy with recurrent GI lymphocytic infiltrate
for immunodeficiency evaluation.  He presented in 1999 with Burkitts
lymphoma primarily involving GI tract.  He was treated appropriately.  In
2006 he presented with small bowel obstruction and biopsy of gut at that
time suggestive of Castleman's disease.  Outside consultation felt this was
less likely.  Staining on this tissue was EBER-, HHV8-, there was a plasma
cell infiltrate with lambda chain predominance.  He was treated with
doxorubicin.  He has been asymptomatic until recently with recurrence of
abdominal pain.  Biopsy of gut this time demonstrates plasma cell infiltrate
with skewing to kappa chain.  He has a IgA monoclonal spike by
immunofixation.  

His other notable history is longstanding T cell lymphopenia (absolute CD4
306, CD8 258; CD19 diminished at 48, one episode of disseminated VZV
(predated all chemo), recurrent sinus infections.

Labs studies:  ADA/PNP normal, SAP expression normal with detectable NKT
cells, chromosome breakage analysis normal, FISH for 22q11 deletion
negative, normal T cell proliferation by CFSE to anti CD3/CD28 and IL2. HIV
is negative.

IgG 722, IgM 23, IgA 1200.  B cell function appears intact.

We are a bit stymied by how to manage this young man, his abdominal pain has
now subsided and he is otherwise clinically well.  I am also wondering if I
am missing an underlying immune defect.  I plan to check NK cell function
and welcome any other suggestions.  Thank you!  Chris


Chris Seroogy, M.D.

University of Wisconsin

Assistant Professor

Dept. of Pediatrics

Mail:  H4/474 CSC, Mailstop 4108

Shipping:  H4/431 CSC, Mailstop 4108

600 Highland Ave.

Madison, WI  53792

phone: 608- 263-2652

fax: 608-265-0164

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