[PAGID] case question

[kumar036 at umn.edu]

We have recently reported the story of 2 brothers who presented with HLH, 
one at age 8 months and the other at age 3 (they developed HLH within 10 
days of each other). They both had XLA. (Schultze KA, Pediatric Blood and 
Cancer, 2008, 51:293-5)

I have seen normal immune globulin levels in XLA infants that eventually go 
away. The only thing that doesn't fit with this scenario in your patient is 
the normal B-cell count initially. Please keep us posted.
Ashish Kumar

On Oct 17 2008, Green, Todd wrote:


>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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