[CIS-PAGID] Chr 22q11.2 duplication

[Vivian Hernandez-trujillo]

Dear Joe-

We have the same experience in Miami.

Viv
----- Original Message -----
From: "Joseph Church" <JChurch at chla.usc.edu>
To: pagid at list.clinimmsoc.org
Sent: Tuesday, February 14, 2012 8:03:13 PM GMT -05:00 US/Canada Eastern
Subject: Re: [CIS-PAGID] Chr 22q11.2 duplication




Thanks, Kate.  Exactly what I needed.  JC 

  



From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Kate Sullivan 
Sent: Tuesday, February 14, 2012 4:52 PM 
To: pagid at list.clinimmsoc.org 
Subject: Re: [CIS-PAGID] Chr 22q11.2 duplication 

  

We have found a number here and while they have many featured in common with the deletions, they have not (so far) had an immune deficiency. 


  


Kate 



Kate Sullivan, MD PhD 
Professor of Pediatrics 
ARC 1216 Immunology CHOP 
3615 Civic Center Blvd. 
Philadelphia, PA 19104 
(p) 215-590-1697 


(f) 267-426-0363 

  



On Feb 14, 2012, at 6:09 PM, Church, Joseph wrote: 







Colleagues: 


  


I have been asked to see a 1yo with congenital anomalies, chronic lung disease, PDA ligation and coarc repair, and acute pneumonia.  The patient phenotypically looks like a DiGeorge patient.  She has chr 22q11.2   duplication . 


  


Do patients with 22q.11.2   duplication   have immunodeficiency? 


  


Thank you. 


  


Joe Church 


Children's Hospital Los Angeles 


  


  


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