[PAGID] (no subject)

[HOWARD M LEDERMAN]

We have seen a number of NBS pts at the Hopkins A-T clinic, as the disease is a biochemical (though not a phenotypic) cousin of A-T.  The degree of immunodeficiency is quite variable.  Some pts have normal or near normal immune function and need no supportive Tx.  Others need IVIG and TMP/SMX.    All pts should be counselled to avoid x-rays and radiomimetic drugs.


Our approach has been to do the usual tests of T and B cell number and function, then to base treatment decisions (IVIG, PCP prophylaxis, etc) on the deficiency that is found.  


Howard
Howard M. Lederman, M.D., Ph.D.
Professor of Pediatrics and Medicine
Division of Pediatric Allergy and Immunology
Johns Hopkins Hospital - CMSC 1102
600 N. Wolfe Street
Baltimore, MD 21287-3923
Phone:  410-955-5883
Fax:    410-955-0229
e-mail: Hlederm1 at jhem.jhmi.edu


----- Original Message -----
From: Anita Gewurz <agewurz at rush.edu>
Date: Tuesday, June 26, 2007 3:34 pm
Subject: Re: [PAGID] (no subject)
To: pagid at list.clinimmsoc.org



> 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 [ 

>  > 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

>  >

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>  >

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>  >

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>  >

>  >

>  >

>  >

>  >

>  >

>  >

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>