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

[Elif Dokmeci]

Yes , I contacted with UCSF  re: BMT and send HLA typing from family.
So you would still consider BMT?

On Wed, Sep 26, 2012 at 4:45 PM, Kate Sullivan
<sullivak at mail.med.upenn.edu>wrote:


>

>

>  If the small bowel biopsy showed villous atrophy, I would definitely

> continue tacrolimus and start a BMTsearch

>

> Kate Sullivan

> Sent from my iPhone

>

> On Sep 26, 2012, at 6:11 PM, Elif Dokmeci <edokmeci at gmail.com> wrote:

>

>

>   Dear all,

>

>  I would like to present a challenging case, who I think may have IPEX or

> IPEX like syndrome.

>  I would appreciate your input.

>

>  This is a 8 weeks old male infant who was admitted to hospital due to

> severe profuse diarrhea, vomitting, FTT at 6 weeks old.  He also has

> diffuse eczematous rash on his body all over. I was called for PID work up

> for this baby who`s brother  died at 5 mo af age due to GI infection ( per

> mom), Klebsiella Sepsis and Meningitis ( per hospital report) 11 years ago.

> He also presented with vomitting, chr. diarrhea, FTT, rash after mom

> weaning him  from BM to formula.

>

>  This male infant also developed vomitting  and diarrhea episodes after

> mom swithing from breast milk to formula.

>  His clinical features are: Diffuse  eczematous rash, diarrhea 10-12 per

> day.  Diarrhea continued  even with Elecare. Now on TPN  and has 4-5 stools.

>  His IgE is  high 1900.   Ig G;544     IgA; 70      IgM:102

> Lymphocyte enumeration is normal as well as mitogen responses.

>  He also has anemia and  work up showed Ig G and complement direct coombs

> positivity.

>  His anti- Tyroglobulin ab is  high (266), islet cell ab and tyroid

> peroxidase Ab: 21.4, Tyroglobulin ab: 16.7  Anti GAD and Anti islet cell

> ab, LKM Ab are normal.

>  He also had proteinuria, 100mg/ml

>  His GI  biopsy  report is pending. No gross pathology on colonoscopy.

>  None of his cultures( stool, blood, Urine, CSF) grew so far. ( these

> include CMV, Norovirus, Herpes, Adeno v, RSV, Inf)

>

>  His H/H dropped to 6.8/ 19 and required multiple transfusions. Work up

> showed Coombs +.

>  ANC: 6200  AMC: 2700 ALC: 3000 AEC: 100

>  total protein is 6 and Alb: 2.0

>

>  I started him on Tacrolimus based on his clinical findings, pending TREGS

> and FOXP3 protein expression.

>  He had transient elevation of LFT`s when I started him on Tacrolimus, now

> normalized.

>

>  His TREG study showed 2.6% Nat Tregs ( prefered to be 5-10% on my

> knowledge) . His TREG assay is *attached*.

>

>  FOXP3 arrived today which showes 93% expression and Absolute Foxp3 is 210

> cells/mcL.

>  FOXP3 *gene analysis is pending*. Which may take 4-6 weeks.

>

>  Any ideas?  Should I continue with Tacrolimus?

>

>  Thanks,

>  Elif

>

>

> Elif  Dokmeci, MD

> Pediatric Immunology

> Assistant Professor of Pediatrics

> University of New Mexico Children's Hospital

> Phone: 505 272 8185

> Fax: 505 272 4549

>

>  <TREG assay.docx>

>

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>

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>

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>

>

> The CIS-PIDD listserv is supported by:

> Clinical Immunology Society - The science & practice of human immunology

>

> P: +1.414.224.8095

> E: info at clinimmsoc.org

>

> Not a member of CIS? Please visit www.clinimmsoc.org to join!

>




-- 
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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