[CIS PIDD] 8 weeks old baby with chr. diarrhea, FTT and autoantibodies, eczema: ???IPEX
Elif Dokmeci
edokmeci at gmail.com
Wed Sep 26 18:49:23 EDT 2012
Yes he had some improvement with TPN and Tacrolimus. His platelet size is
normal so far.
Thanks,
Elif
On Wed, Sep 26, 2012 at 4:45 PM, Rafael Firszt
<Rafael.Firszt at hsc.utah.edu>wrote:
>
>
> Is he improving on Tacrolimus?
>
> I would consider mutation testing for Stat1, Stat5b and cd25. I believe
> Seattle can do all three tests.
>
> Other considerations:
>
> 1. Wiscott Aldrich Syndrome
> 2. Mitochondrial Disease
>
> Thanks
>
> Rafael Firszt
> University of Utah
>
> From: Elif Dokmeci <edokmeci at gmail.com>
> Reply-To: "pagid at list.clinimmsoc.org" <pagid at list.clinimmsoc.org>
> Date: Wed, 26 Sep 2012 16:11:53 -0600
> To: "pagid at list.clinimmsoc.org" <pagid at list.clinimmsoc.org>
> Subject: [CIS PIDD] 8 weeks old baby with chr. diarrhea, FTT and
> autoantibodies, eczema: ???IPEX
>
> 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
>
> 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.orgto join!
>
> 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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