[PAGID] digeorge with lymphoid hyperplasia?

[Jack Bleesing]

Seen several patients, suspected of having ALPS, turned out to have DGS.
They can have low numbers of DNTCs (that are not of the ALPS variety).
We have a large population  (~15 patients) of DGS with autoimmune
cytopenias. Interestingly, a subset of these have low FOXP3+ T cells,
even if other immunologic assays, including CD45RA and RO are relatively
normal (and T-cell function is entirely normal).

JB

---------------------------------------------------------------------------
Jack J.H. Bleesing, M.D., Ph.D.
Cincinnati Children's Hospital Medical Center
Division of Hematology/Oncology
3333 Burnet Avenue, MLC 7015
Cincinnati, OH 45229
513-636-4266 (phone)
513-636-3549 (fax)
Jack.Bleesing at CCHMC.org
http://www.cincinnatichildrens.org/immunodeficiencies/



>>> sullivak at mail.med.upenn.edu 10/24/2007 3:14 PM >>>

I would also think of ALPS.  If so- that will guide your therapy.

Kathleen E. Sullivan MD PhD
Chief, Division of Allergy and Immunology
Professor of Pediatrics
The Children's Hospital of Philadelphia
(p) 215-590-1697
(f) 267-426-0363


On Oct 24, 2007, at 3:11 PM, Ashish Kumar wrote:


> 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

>