[CIS PIDD] [cis-pidd] 18 p deletion and multiple autoimmune diseases

[Yeşim Yılmaz Demirdağ]

Dear all,
I am seeing a 6-year-old boy with a large interstitial deletion on the
p arm of chromosome 18. I'd appreciate your comments. His history is
very impressive:
- Autoimmune hypothyroidism diagnosed at 4 months
- Type 1 Diabetes diagnosed at 9 months
- Psoriasis (mild) at 1 year of age
- Autoimmune gastritis diagnosed at 6 years
There is no history of recurrent infections of any kind.
He has mild developmental delay, intermittent diarrhea or
constipation, and mild iron deficiency anemia.
Immunologic evaluation at 2 yrs was unremarkable (normal CBC w diff,
QuIgs, lymphocyte subsets, Foxp3 expression, complement, specific
titers). I am thinking about checking for Foxp3 mutation.

Thank you,
Yesim

Yesim Yilmaz Demirdag, MD
Columbia University Medical Center
3959 Broadway Room: CHN 107
New York, NY 10032
phone: (212) 305 2300
fax: (212) 305 4538

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