[PAGID] sterile granuloma in NBS1?

[Kirkpatrick, Charles]

Were cultures for Nocardia done?

Have you checked for abnormalities in the IL-12-IFNγ-STAT axis?

Chuck Kirkpatrick, M.D.

-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Chinen, Javier
Sent: Friday, May 29, 2009 8:05 AM
To: 'pagid at list.clinimmsoc.org'
Subject: [PAGID] sterile granuloma in NBS1?

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





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