[CIS PIDD] [cis-pidd] Peruvian 4-month-old girl with chronic diarrhea, agammaglobulinemia, cardiac defects and peculiar facies

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I recently had 2 cases with confirmed gene diagnosis of THE Syndrome and both had very low B cells and Ig deficiencies. So, I would definitely consider getting gene study for this case.

Thanks,
Elif

Elif Dokmeci


> On Mar 27, 2014, at 5:34 PM, John Ziegler <j.ziegler at unsw.edu.au> wrote:

> 

> Paul Gray in my department comments as follows:

> 

> 

> Dear All,

> 

> I would support up front doing CGH array in a dysmorphic child with PID.

> 

> Another thought would be trichohepatoenteric syndrome as these kids are mildly dysmorphic and chronic diarrhoea.  However antibody is not usually absent.

> 

> The following are a few links to case reports which include low B-cells and dysmorphism.

> 

> 1.    http://www.ncbi.nlm.nih.gov/pubmed/16691627 

> 

> 2.    http://www.ncbi.nlm.nih.gov/pubmed/15661032

> 

> 3.    http://onlinelibrary.wiley.com/doi/10.1002/1096-8628(20001106)95:1%3C17::AID-AJMG5%3E3.0.CO;2-M/pdf

> 

> 4.    http://pediatrics.aappublications.org/content/105/3/e39.full.pdf+html

> 

> 

> thanks Paul

> 

> 

> Dr. Paul Gray

> Staff Specialist in Paediatric Immunology and Allergy

> Sydney Children's Hospital

> Phone 02 9382 1515

> Fax 02 9382 1580

> 

> 

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