[PAGID] (no subject)

[Berger, Melvin]

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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