[PAGID] sterile granuloma in NBS1?

[Chris Seroogy]

Dear Javier,

Have you considered Wegener¹s granulomatosis?

Chris


-- 
Christine M. Seroogy MD, FAAP, FAAAAI
Assistant Professor
University of Wisconsin
Department of Pediatrics
Division of Allergy, Immunology & Rheumatology
H4/474 CSC
600 Highland Avenue
Madison, WI  53792-4108
phone: 608-263-2652
fax: 608-265-0164





On 5/29/09 9:04 AM, "Chinen, Javier" <jxchinen at texaschildrens.org> wrote:


> Dear all, 

> I take care of an 18 yo male with Nijmegen syndrome, has CD4s at ~200, poor

> but not absent mitogen responses, IVIG dependent. No other major organ

> problems. He has been relatively well on IVIG and Bactrim prophylaxis, with

> infrequent courses of quinolones/macrolides for upper respiratory infections.

> Over the last 2 years, he has developed a granulomatous process that started

> on his nasal septum and at the nare opening, then perforated palate, and after

> a few months presented with granulomas in his right wrist synovia and radius

> head, and right distal femur. ENT and Ortho removed diseased tissue, but this

> progressed and was recurrent in the wrist. Our working diagnosis is

> mycobacterial disease, based on few, rare acid-fast bacilli that never grew in

> culture. Multiple biopsies have been tested for mycobacterial DNA by PCR and

> was negative. Because clinical and epidemiological data, we considered this

> could be leprosy, however the granulomatous processes continued while on

> Dapsone and Rifampin for over 3 months, now he is on anti-atypical

> mycobacterial treatment, though poorly tolerated. He does not have fever, or

> other systemic symptoms. His CRP is modestly elevated, the granuloma biopsies

> are reported as a mix of caseating and not caseating, and are well organized.

> There is no monoclonal population in the granulomas or peripheral blood.

> My questions are;

> 1. Has anyone seen Nijmegen Sx developing sterile granulomatous processes,

> (excluding related to lymphoma)?

> 2. Any other diagnosis? Would you use steroids?

>  

> Thank you, 

>  

> Javier

>  

>  

>  

>  

> ------------------------------------------------------------

> CONFIDENTIALITY NOTICE:

>  The information in this e-mail may be confidential and/or

>  privileged.  If you are not the intended recipient or an

>  authorized representative of the intended recipient, you

>  are hereby notified that any review, dissemination, or

>  copying of this e-mail and its attachments, if any, or

>  the information contained herein is prohibited.  If you

>  have received this e-mail in error, please immediately

>  notify the sender by return e-mail and delete this e-mail

>  from your computer system.  Thank you.

> ============================================================

> 


-------------- next part --------------
An HTML attachment was scrubbed...
URL: <http://seven.pairlist.net/mailman/private/pagid/attachments/20090529/962dcbea/attachment.html>