[PAGID] digeorge with lymphoid hyperplasia?

[Ashish Kumar]

I just saw a 13 year old girl who had a VSD closure at birth, and was
diagnosed with ITP 2 years ago. She now has mediastinal and axillary
lymphadenopathy and massive splenomegaly (spleen almost into pelvis). I
initially thought she had lymphoma because her LDH and uric acid were
elevated. But a lymph node biopsy only showed follicular hyperplasia. The
chest CT also showed a right sided aortic arch and I thought she looked
dysmorphic, but her calcium level is normal. Her absolute lymphocyte count
is 1000 (which our lab labeled as normal but I think is low for a 13 year
old). The absolute CD4 is 450 and absolute CD8 count is 250. Also, IgA is 7,
IgG is 620 (low for her age) and IgM is 250 (high for her age). Diphtheria
and Tetanus titers are reactive, but low (both 0.07). She is clinically
stable and has no history of recurrent infections. 

If she has DiGeorge (FISH pending); why the lymphoid hyperplasia? Or is her
diagnosis CVID? I don't have her CD27 count.
She doesn't have autoimmune hemolytic anemia or ITP (platelet counts are now
normal). I found 2 reports of B cell lymphoma in DiGeorge patients, both EBV
associated, but her lymph node stained negative for EBV. 

Any suggestions on what to do for the lymphoid hyperplasia - IVIG
replacement won't help this, or would it? 

Ashish Kumar M.D., Ph. D.
Assistant Professor
Pediatric Hematology/Oncology/Blood and Marrow Transplantation
University of Minnesota