[PAGID] CVID/HIGM/ALPS

[Jack Bleesing]

HIGM6

Dr. Uzel at the NIH can sequence for you.

JB

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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/



>>> "Lisa Kobrynski, MD, MPH" <lkobryn at emory.edu> 8/7/2008 10:45:55 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)