[PAGID] sterile granuloma in NBS1

[Jack Bleesing]

Thanks for the update.

If you know (researched), can you tell us what the BMT experience is in this disorder?

Regards,
JB

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Jack J.H. Bleesing, M.D., Ph.D.
Associate Professor of Pediatrics
Cincinnati Children's Hospital Medical Center
Division of Hematology/Oncology
3333 Burnet Avenue, MLC 7015
Cincinnati, OH 45229
513-636-4266 (phone)
513-636-3549 (fax)
Jack.Bleesing at CCHMC.org
http://www.cincinnatichildrens.org/immunodeficiencies/



>>> "Chinen, Javier" <jxchinen at texaschildrens.org> 6/1/2009 3:01:01 PM >>>

Dear Drs Anis, Vaconcelos, Gewurz,
Thank you for your comments and references. Sarcoidosis was considered unlikely based on the mix of caseating and non-caseating granulomas, and the rather peripheral distribution of the lesions.
The report from Sidbury et al seems to be the only one published presenting Nijmegen syndrome with granuloma, which is non-necrotizing and limited to skin. Our patient is lymphopenic (ALC 720), and although his % NK cells is somewhat elevated (~14%), it is reciprocal with the decreased B cell (~6%). Absolute numbers are depressed. He does not have detectable IgA, IgM, IgE. 

Thnks, 
Javier 




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On May 29, 2009, at 1:18 PM, Chinen, Javier wrote:


>

> Dear Dr. Kirkpatrick, Jack, Chris,

> I very much appreciate your interest and suggestions.

> Wegener's was early in our differential, our pathologists ruled it  

> out based on lack of vascular compromise. We didn't measure  

> antibodies since he is IVIG dependent.

> We have done cultures aerobic, anaerobic, fungal and AFB from every  

> site at least twice each site now, without any organism recovered  

> or seen in the staining. I asked our pathologists to take a second  

> look at the first biopsy, and it was only when a fellow spent some  

> time looking at the slides that she saw the rare AFB, actually  

> FITE. We have not studied the IFN-g/IL12 axis, considering that at  

> this time we are not sure this is a mycobacterial infection.

> Have tried the Nijmegen center though a different person with no  

> response, will try your suggestion

> Thanks

> Javier

>


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