[PAGID] 22q11 deletion and granulomas

[Church, Joseph]

Regarding reliance on serology in patients on Ig replacement - The
amount of antibody to fungal agents in Ig products is likely to be low.
A strongly positive test would likely indicate the patient as the source
of the antibody.   A negative test may mean lack of infection OR an
inability of the patient to generate organism-specific antibodies.

 

Joe Church

Childrens LA

 

________________________________

From: pagid-bounces at list.clinimmsoc.org
[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of MacGinnitie,
Andrew
Sent: Tuesday, July 06, 2010 5:57 AM
To: pagid at list.clinimmsoc.org
Subject: [PAGID] 22q11 deletion and granulomas

 

I'd appreciate any input on the following patient, who I met for the
first time last week

 

15 year old girl with 22q11.2 diagnosed by FISH at age 9 secondary to
hypocalcemia, heart defects (VSD and PDA) and Evans syndrome (autoimmune
thrombocytopenia and anemia).

 

She has also had severe lichen planus primarily on the legs that has not
responded to topical steroids.  She had one lesion that became
superinfected and needed 6 months of therapy by a wound clinic

 

Over the last few years she has had several CXR diagnosed pneumonias
which have typically responded to antibiotics as well as some sinus
infections.  Another immunologist started her on subcutaneous IgG
replacement 9 mos ago based on the history of pneumonias and low normal
IgG (564) with normal IgA and IgM.  She had an adequate response to
Tetanus but responded to 1/14 pneumococcal serotypes (no  vaccination).
Interestingly, she feels the SCIG has improved her lichen planus.

 

Last fall she had cough, shortness of breath and chest pain that she
attributed to another pneumonia.  A course of azithromycin didn't help
and a repeat CXR showed a nodular pattern, that on reexamination was
present on the first CXR.

 

She got CT, brochoscipy  with BAL and then transthoracic biopsy that
revealed granulomas but no organisms were visualized or grew in culture.
The pathologists initially thought these were likely infectious but on
reexamination don't feel they can rule out sarcoidosis although they
don't think the lesions are typical.

A PPD was negative

 

The lesions are being followed by CT and seem to be slowly getting worse
although clinically she is well.  ID felt that serologies for possible
fungal causes like Cryptococcus, blastomycosis and histoplasmosis would
be uninterpretable due to IgG replacement

 

A literature search turned up an abstract at the AAAAI several years ago
of 3 patients with 22q11 and sarcoid but not much else

 

I wonder if anyone has seen a similar case or has other ideas.  

I also wonder if anyone knows if there are significant antifungal titers
in IgG products.

 

Given the diagnostic uncertainty and possible infectious etiology  we
are hesitant to treat with steroids unless we have too.


Thanks

 

Andy

 

Andrew J. MacGinnitie MD PhD
Assistant Professor of Pediatrics
Division of Pulmonary Medicine, Allergy and Immunology
Children's Hospital of Pittsburgh
45th Street and Penn Ave 15201
andrew.macginnitie at chp.edu
412/692-8903 (office) 412/692-8499 (fax) 

 

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