[CIS-PAGID] Chr 22q11.2 duplication

[Verbsky, James]

We have a similar patient here with no evidence of immune deficiency. 

Sorry for the brevity.  Sent from my iPhone.  James

On Feb 14, 2012, at 8:39 PM, "Vivian Hernandez-trujillo" <drbibi at pol.net> wrote:


> 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 

> 

> 

>   

> 

> 

>   

> 

> 

> --------------------------------------------------------------------- 

> CONFIDENTIALITY NOTICE: This e-mail message, including any attachments,   

> is for the sole use of the intended recipient(s) and may contain confidential 

> or legally privileged information. Any unauthorized review, use, disclosure 

> or distribution is prohibited. If you are not the intended recipient, please 

> contact the sender by reply e-mail and destroy all copies of this original message.   

> --------------------------------------------------------------------- 

> 

>   

> 

> 

> --------------------------------------------------------------------- 

> CONFIDENTIALITY NOTICE: This e-mail message, including any attachments, 

> is for the sole use of the intended recipient(s) and may contain confidential 

> or legally privileged information. Any unauthorized review, use, disclosure 

> or distribution is prohibited. If you are not the intended recipient, please 

> contact the sender by reply e-mail and destroy all copies of this original message. 

> --------------------------------------------------------------------- 

>