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

[Rafael Firszt]

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<mailto:edokmeci at gmail.com>>
Reply-To: "pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>" <pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>>
Date: Wed, 26 Sep 2012 16:11:53 -0600
To: "pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>" <pagid at list.clinimmsoc.org<mailto: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<tel:505%20272%208185>
Fax: 505 272 4549<tel:505%20272%204549>

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