[PAGID] (no subject)

[Anita Gewurz]

I was also thinking about contacting Dick, now I definitely will.   
Dick supervised my clerkship in Dr. Good's lab 40 yrs ago!  Regards  
from Henry, too, Anita

On Jun 26, 2007, at 2:01 PM, Berger, Melvin wrote:


> Dick Gatti at UCLA is very interested in this. We recently had him  

> here as a visiting professor and presented a case of Nijmegen  

> Breakage Syndrome. That child has never been sick and is  

> functioning quite well mentally so she has been going to regular  

> school and completed first grade. She is on IGIV and bactrim  

> prophylaxis (for pneumocystis) which we think are prudent precautions.

>

>

>

> Mel Berger

>

>

>

> From: pagid-bounces at list.clinimmsoc.org [mailto:pagid- 

> bounces at list.clinimmsoc.org] On Behalf Of Anita Gewurz

> Sent: Tuesday, June 26, 2007 2:57 PM

> To: pagid at list.clinimmsoc.org

> Subject: [PAGID] (no subject)

>

>

>

> 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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