[PAGID] 22q11 deletion and granulomas

[Cunningham-Rundles, Charlotte]

Hi Andy,

We have seen either 3 or 4 of these now. (All have 22q11.2.)  They have had
troublesome ITP/ and or AHA, and have granuloma in  lymph nodes, bone marrow
or lungs. They are all more or less hypogammaglobulinemic, one very
profoundly so, with IgG of less than 50 mg/dl.   All are are IVIG now; one
or maybe 2 had rituxan for ITP, which worked fine.   No organisms have been
found.  I personally think that this is granulomatous disease as found in
others with significant T cell defects:   CVID, RAG, Artemis, and others. ID
goes crazy but we rarely find the cause ( call it never or close to never.)

You could send off the IVIG solution anyway to the lab ‹  dilute it about 10
mg/ml and see what you find.

Let us know  the results,

Charlotte


Charlotte Cunningham-Rundles MD PhD
Departments of Medicine, Pediatrics
The Immunology Institute
Mount Sinai School of Medicine
1425 Madison Avenue,
New York City, New York, 10029
212 659 9268 (phone)
212 987 5593 (fax)



From: "MacGinnitie, Andrew" <macginnitieaj at upmc.edu>
Reply-To: PAGID <pagid at list.clinimmsoc.org>
Date: Tue, 6 Jul 2010 12:57:29 +0000
To: PAGID <pagid at list.clinimmsoc.org>
Subject: [PAGID] 22q11 deletion and granulomas

I¹d 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 didn¹t 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 don¹t feel they can rule out sarcoidosis although they don¹t
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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