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

[Kate Sullivan]

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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