[PAGID] sterile granuloma in NBS1?

[Anita Gewurz]

Dear Javier,

We have 3YOM and 5YOF sibs with NBS.  These publications from the  
Children's Memorial Health Institute in Warsaw have contact  
information that may be helpful:

Abnormalities in the T and NK lymphocyte phenotype in patients with  
Nijmegen breakage syndrome.
Michałkiewicz J, Barth C, Chrzanowska K, Gregorek H, Syczewska M,  
Weemaes CM, Madaliński K, Stachowski J; D. DZIERZANOWSKA.
Clin Exp Immunol. 2003 Dec;134(3):482-90.

Heterogeneity of humoral immune abnormalities in children with  
Nijmegen breakage syndrome: an 8-year follow-up study in a single  
centre.
Gregorek H, Chrzanowska KH, Michałkiewicz J, Syczewska M, Madaliński  
K.
Clin Exp Immunol. 2002 Nov;130(2):319-24.

Neither of our patients has granulomas, but we appreciate being  
alerted to this potential complication.  They have the elevated (and  
progressively increasing) NK counts described above.  The older sib  
is being treated for  a first systemic infection (UTI), but both have  
really good humoral immunity panels.

The following paper describes a 7YOF with NBS and a 5-yr history of  
sarcoid-like noncaseating granulomas of the cheeks for which no  
explanation was found:

Cutaneous noncaseating granulomas associated with Nijmegen breakage  
syndrome.
Yoo J, Wolgamot G, Torgerson TR, Sidbury R.
Arch Dermatol. 2008 Mar;144(3):418-9. No abstract available.

We look forward to learning from you and our colleagues about  
management of NBS as it evolves.

Sincerely,

Anita Gewurz MD
Section of Allergy/Immunology
Department of Immunology/Microbiology
Rush University Medical Center
1725 W Harrison - 117
Chicago IL 60612
TEL (312) 942-6296
FAX (312) 563-2201
EMAIL agewurz at rush.edu





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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