[PAGID] CVID/HIGM/ALPS

[Soheil Chegini]

Lisa,
 
This is a fascinating case.  Is there any cytopenia or hypoalbuminemia?
 I wonder if you have done an SPEP or immunoelectrophoresis to rule out
Waldenström macroglobulinemia, which would be unusual at his age.  In
that case amyloidosis which is a known complication and could explain
lymphadenopathy has to be rule out.  This may not account fully for this
clinical picture, but a simple test can easily exclude it.
 
Best,
Soheil
 
Soheil Chegini, MD
Assistant Professor of Medicine & Pediatrics
Penn State Hershey Medical Center
500 University Dr. H041
Hershey, PA 17033
Tel. 717-531-6525
Fax 717-531-5785



>>> "Lisa Kobrynski, MD, MPH" <lkobryn at emory.edu> 8/7/2008 10:45 AM

>>>

I was hoping to get some suggestions on a patient of mine
I am following a 10 year old boy who presented initially with
lymphadenitis and
bronchiectasis at age 4 years.  He had malakoplakia found by the
pathologists in
his tonsillar tissue after a tonsillectomy.

He initially had low IgG and IgA with a normal IgM and very poor
specific
antibody responses and was given a diagnosis of CVID.
Over the years he has had assorted infections (yersinia, salmonella
enteritis,
pneumonia) but developed very significant cervical lymphadenopathy last
year. 
Repeated biopsies have not shown any malignant transformation or
clonality of
the cells.  One node became necrotic and grew achromobacter xylosidans,
which he
has had intermittently in the blood ever since.  It is not resistant
to
everything.  Also his IgM is now over 3000.  ALPS panel initially
showed an
increase in DN T cells, activated T cells and a decrease in memory B
cells.  DN
T cell % had decreased at the last measurement.
He has minimal hilar adenopathy, some mild inguinal adenopathy, but the
cervical
LN are the biggest issue.

I want to take a poll and find out who thinks this is just CVID with
lymphoproliferation?  SHould we treat him with chemotherapeutic agents
to
suppress the lymphoproliferation?
Could this have been ALPS all along?
WHo thinks this is a HyperIgM - AID or UNG defect?  (We checked CD40
and CD40L
and they were normal)

Thanks
Lisa

Lisa Kobrynski, MD, MPH
Associate Professor of Pediatrics
Division of Allergy and Immunology
Emory University
404-727-3575
404-727-5045 (fax)
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