[PAGID] case question

[Green, Todd]

We have a case that I would be interested in hearing people's thoughts
on:
 
Now 6 month old male. Our initial consult was 2 months ago when he was
an inpatient transferred to our hospital for pseudomonal sepsis,
hepatosplenomegaly, respiratory distress, and pancytopenia. Had been
healthy for first 4 months. Initial CBC with 53,000 platelets, Hgb of
8.3, ferritin >5000, AST 4735, ALT 1910. CT C/A/P unremarkable. Bone
marrow consistent with HLH. Skin bx from elbow lesion grew pseudomonas.
Ecthyma noted on anal area. EBV PCR (blood) negative, sputum and urine
CMV positive. IgA 113, IgG 636, IgM 133 at 4 months. HIV negative. He
was started on chemo (cyclosporine, dexamethasone and etoposide) for
HLH. Unfortunately, he had a small bowel perforation that required an
ex-lap (thought to be secondary to chemo). Appendix biopsy grew
pseudomonas. 
 
Additional immunologic studies (done while on chemo) showed normal NOBA,
mitogens 50-75% of control, normal CH50.  Lymphocyte subsets at 4 1/2
months of age showed:
CD 3+ 1159
CD 4+ 777
CD 8+ 379
CD 19+ 375
CD16/56+  66.
 
FHL STXII- negative for mutation
PERF- negative for mutation
MUNC- negative for mutation
SH2DIA and BIRC4 mutation analysis- pending
NK functional test- pending
 
Pt was discharged to home after about 4 weeks in hospital and has been
doing very well clinically on chemotherapy for HLH (using the HLH-2004
protocol). He did leave with an NG due to swallow issues. Consideration
is being given to transplant.
 
Immunoglobulins and lymphocyte subsets were repeated within the past
week (now at 6 months of age), with the following results:
 
IgA <7
IgG 104
IgM <25
 
CD 3+  3270
CD 4+  2368
CD 8+  882
CD 19+  40
CD 16/56+ 126
 
We are currently a little perplexed about the decline in B-cell number
as well as immunoglobulin levels, as if he is not producing antibody.
 
He has no hair or pigment abnormalities. In addition to mutation
analysis for XLP, we are considering XLA given his recent labs. 
 
As our Heme-Onc colleagues consider transplant, we would obviously like
to try to diagnose an underlying primary immunodeficiency if possible.
Does anyone have any other thoughts or suggestions?
 
Thanks very much for your time and thoughts.

Todd

Todd D Green, MD 
Assistant Professor of Pediatrics 
Division of Pulmonary Medicine, Allergy and Immunology 
Children's Hospital of Pittsburgh 
3705 Fifth Avenue 
Pittsburgh, PA   15213 
telephone 412-692-5103 
fax 412-692-8499

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________________________________

From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Berger, Melvin
Sent: Monday, October 13, 2008 12:29 PM
To: pagid at list.clinimmsoc.org
Subject: RE: [PAGID] Mitogen Stim and hypothyroidism


Anecdotally- i think I have seen this and it was corrected by adequate
replacement.
 
Melvin Berger, M.D., Ph.D.
Professor of Pediatrics and Pathology
Case Western Reserve University
phone 216 844 3237
 
Director, Jeffrey Modell Center for Primary Immune Deficiencies
Division of Allergy-Immunology
Rainbow, Babies and Children's Hospital
University Hospitals of Cleveland
RB&C Rm 504, MS 6008B
11100 Euclid Ave.
Cleveland, OH 44106

________________________________

From: pagid-bounces at list.clinimmsoc.org on behalf of Jason Raasch, MD
Sent: Thu 10/9/2008 9:15 PM
To: pagid at list.clinimmsoc.org
Subject: [PAGID] Mitogen Stim and hypothyroidism



Is [untreated] congenital hypothyroidism known to affect in vitro
mitogen stimulation?  

 

Not much in the literature.  Anecdotal experiences?

 

Thanks,

 

Jason

 

Jason P. Raasch, MD

Children's Hospitals and Clinics of Minnesota

 

Midwest Immunology Clinic

West Health

2805 Campus Dr, #215

Plymouth, MN 55441

 

Telephone: 763.577.0008

FAX: 763.577.0192

e-mail: raas0027 at umn.edu

 



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