[PAGID] Puzzling case of hypergammaglobulinemia with absence of antibody responses

[Kathleen E. Sullivan]

I followed a young boy who presented nearly identically and I called  
him a patient with combined immune deficiency for about 7 years.   
When testing for Artemis became available I sent it and he has a SCID- 
associated mutation on one chromosome.  The other chromosome is  
either deleted or normal and we are working on the assumption that he  
has a mild/moderate Artemis deficiency while the investigations move  
forward.

Kate
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 Dec 24, 2008, at 10:20 AM, Howard M Lederman wrote:


> I am evaluating a 20 month old girl with a perplexing combination  

> of findings, and could use some help:

>

> She was a full-term infant who began having recurrent otitis media  

> at 10 months of age. For unclear reasons, she was treated with 5  

> days of prednisone + antibiotics for each OM.  At age 12 months,  

> she stopped standing, putting weight on her legs, and cruising.   

> She had normal brain MRI, EMG, and nerve conduction velocity  

> tests.  Shortly after, she was treated with Decadron on 3 occasions  

> within 2 wks for croup.  The following week, she developed stridor,  

> and was intubated with findings of laryngeal and subglottic  

> swelling.  She was treated with pressors, blood transfusion, and GM- 

> CSF.  During her hospitalization, a trachea culture was positive  

> for Pseudomonas and Enterobacter.  Blood cultures were negative.   

> She developed candidal esophagitis and C. difficile diarrhea.  

> During her hospitalization, she was found to have  

> hepatosplenomegaly, still of unknown etiology. She was found to  

> have a drenal insufficiency, presumed to be secondary to steroid  

> use, and was started on replacement therapy.

>

> While hospitalized in 05/2008, she was evaluated for  

> immunodeficiency. She had normal immunoglobulin levels (IgA 291 mg/ 

> dL, IgG 1270 mg/dL, and IgM 372 mg/dL).  She had normal adenosine  

> deaminase (67.3 nmol/h/mg) and purine nucleoside phosphorylase  

> (1730 nmol/h/mg) levels.  She had diminished lymphoproliferative  

> responses to PHA (33% normal control), concanavalin A (6% normal  

> control), and pokeweed mitogen (58% normal control).  She had low  

> percentages and numbers of CD3 (31%; 294/cu mm), CD4 (24%; 223/cu  

> mm) and CD8 (7%, 65/cu mm) T-lymphocytes.

>

> When I first saw her last month, she had normal responses to T-cell  

> mitogens (unstimulated 318 cpm, Phytohemagglutinin A 77,979 cpm,  

> Concanavalin A 29,606 cpm), and negative FISH for 22q11 deletions.   

> She had a borderline low white blood count (5850/cu mm) with 63%  

> lymphocytes (3710/cu mm).  She had low percentages of CD3 (35%),  

> CD4 (29%; 998/cu mm) and CD8 (5%) T lymphocytes.  Despite the high  

> levels of IgG (and IgA), she had no detectable IgG Ab to previously  

> administered vaccines, nor to a subsequent booster dose of  

> Prevnar.   PCR tests for HIV, CMV and EBV were negative.  Ferritin  

> normal (17 ng/mL), trigylcerides slightly high (169 mg/dL).  Her  

> IgG and IgA levels have increased.  IFE shows multiple bands of  

> restricted electrophoretic mibility in IgG, IgA, kappa and lamda lanes

>

> I am anxious for ideas to explain all of this.

>

>

> Howard

> Howard M. Lederman, M.D., Ph.D.

> Professor of Pediatrics, Medicine and Pathology

> Division of Pediatric Allergy and Immunology

> Johns Hopkins Hospital - CMSC 1102

> 600 N. Wolfe Street

> Baltimore, MD 21287-3923

> Phone: 410-955-5883

> Fax: 410-955-0229

> Email: Hlederm1 at jhem.jhmi.edu

>

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