[CIS PIDD] 8 weeks old baby with chr. diarrhea, FTT and autoantibodies, eczema: ???IPEX

[Elif Dokmeci]

Thank you very much for your very valuable input on this case.
I was expecting FOXP3 protein be low, but came as normal. I didt get the
full report yet. I will find out CD25 staining tomorrow.
His mitogen responses and lymp enumeration studies were all normal.
I only started Tacro for now, as I wasnt sure about DM status, didnt want
to cause glucose issues. GI bx hopefully be more informative.
 How did you give Tacro?  Currently he is on iv infusion, awaiting  for GI
report. Did your patients have villous atrophy?

Thanks
Elif



On Wed, Sep 26, 2012 at 9:09 PM, Verbsky, James <jverbsky at mcw.edu> wrote:


>

> Elif

>

> Did they stain for CD25 on the Foxp3 analysis?  If there is detectable

> CD25 and the mitogens are normal (should be absent in CD25

> deficiency)..CD25 is unlikely.  Not sure if Stat5b gives you normal

> mitogens or not...I would expect to be abnormal but hard to predict since

> there are two Stat5 genes.  The Stat1 sequencing is a good idea.

>

> Foxp3 sequence will be informative.  Is the patient on just Tacro or other

> immunosuppressants also (steroids??).  We have seen a couple of kids with

> early onset autoimmune enteropathy and eczema...workup was

> negative..improved on steroids and CSA/tacro...have stabilized and are

> doing better....one is now on rapamycin and doing well.

>

> Ive always wondered about CTLA4 deficiency or TGF-b1 deficiency..in mice

> they look like IPEX..long shots but they have to be out there

>

> Best

>

> james

>

>

> James W. Verbsky MD/PhD

> Associate Professor of Pediatrics and Medical Microbiology and Genetics

> Medical College of Wisconsin

> Milwaukee, WI  53211

> jverbsky at mcw.edu

> 414-266-6701 (phone)

> 414-266-6695 (fax)

>

>

>

> -----Original Message-----

> From: pagid-bounces at list.clinimmsoc.org [mailto:

> pagid-bounces at list.clinimmsoc.org] On Behalf Of Elif Dokmeci

> Sent: Wednesday, September 26, 2012 5:12 PM

> To: pagid at list.clinimmsoc.org

> Subject: [CIS PIDD] 8 weeks old baby with chr. diarrhea, FTT and

> autoantibodies, eczema: ???IPEX

>

>

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>




-- 
Elif  Dokmeci, MD
Allergy and Immunology
Assistant Professor of Pediatrics
University of New Mexico Children's Hospital
Phone: 505 272 8185
Fax: 505 272 4549
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