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

[Elif Dokmeci]

 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
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