[PAGID] 22q11 deletion and granulomas

[Berger, Melvin]

IF the patient has been in any area endemic for histo or another airborne fungus, I would empirically start her on a course of a relatively non-toxic antifungal and see if the lesions stop progressing, before I tried anything like steroids or a biological. 
 
Melvin Berger, M.D., Ph.D.
Adjunct Professor of Pediatrics and Pathology
Case Western Reserve University
Cleveland, OH 44106

________________________________

From: pagid-bounces at list.clinimmsoc.org on behalf of MacGinnitie, Andrew
Sent: Tue 7/6/2010 8:57 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) 

 



Visit us at www.UHhospitals.org.

The enclosed information is STRICTLY CONFIDENTIAL and is intended for the use of the addressee only. University Hospitals and its affiliates disclaim any responsibility for unauthorized disclosure of this information to anyone other than the addressee.

Federal and Ohio law protect patient medical information, including psychiatric_disorders, (H.I.V) test results, A.I.Ds-related conditions, alcohol, and/or drug_dependence or abuse disclosed in this email. Federal regulation (42 CFR Part 2) and Ohio Revised Code section 5122.31 and 3701.243 prohibit disclosure of this information without the specific written consent of the person to whom it pertains, or as otherwise permitted by law.
-------------- next part --------------
A non-text attachment was scrubbed...
Name: not available
Type: application/ms-tnef
Size: 7610 bytes
Desc: not available
Url : <http://seven.pairlist.net/mailman/private/pagid/attachments/20100706/95be1e22/attachment-0001.bin>