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

[John Ziegler]

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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