[PAGID] (no subject)

[Anita Gewurz]

Dear PAGID Friends,

We've been asked to see 3- and 4YO sibs from downstate IL with  
Nijmegen syndrome.  Their parents want "immunologic studies."   I  
have not met the family yet and have no other history details.   
However, I've cared for a patient with ATS who required gammaglobulin  
replacement and who developed CNS lymphoma.  I also had a patient  
with Bloom syndrome, oropharyngeal carcinoma and NHL, so I have  
experience with immunodeficiency associated with DNA breakage/repair  
mutations and awareness of the high risk of lymphoma and other  
malignancy.

Regarding immunologic workup for Nijmegen syndrome, other than PBMC  
phenotyping and T- and B- cell functional studies, is anything else  
advised?  Is anyone studying this disease that I could suggest the  
parents contact?

Thanks!

Sincerely,

Anita Gewurz MD <agewurz at rush.edu>
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
PAGER/CELL (847) 224-8550


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