[PAGID] Autoinmmune enteropathy?

[Kate Sullivan]

This sounds like IPEX-like disease.  IPEX is due to mutations in  
FOXP3, which is X-linked, but about half the kids with the phenotype  
have no mutation and are said to have an IPEX-like process.  Steroids  
generally are not helpful, but certainly worth a try.  I usually start  
with rapamycin and then if there is no effect after a month, move up  
to FK506.  This is a transplantable disease although success was poor  
until recently.  There is no specific diagnostic test for the IPEX- 
like patients.  If a biopsy shows lots of villous atrophy in the  
absence of gluten exposure and the there are lots of infiltrating T  
cells in the lamina propria- barring other immune deficiency, I  
usually call it a presumptive diagnosis and start rapamycin.  I try to  
wean them off down the road and if I can't then I call it IPEX-like  
disease.  The effect of rapamycin is variable, but generally takes a  
couple of weeks to a month.

Kate


On Aug 10, 2009, at 2:00 AM, Sabiha Anis wrote:


> What are the results of stool D/R.  Have you ruled out worm  

> infestations?

>

> Regards

> Sabiha anis

>

> Date: Fri, 7 Aug 2009 14:00:55 +0200

> From: nachgonzalez at gmail.com

> To: pagid at list.clinimmsoc.org

> Subject: [PAGID] Autoinmmune enteropathy?

>

> 7 year old female (RM)  with severe chronic diarrea with neonatal  

> onset. Cuacasian. She has persistent malabsortion. She required  

> parenteral nutrition when she was eighteen month old (for severe  

> malnutrition). Intestinal biopsy (2002): moderate partial vellous  

> atrophy.

>

> Her sister (AM) suffers from refractory celiac disease (CD) with  

> persistent antigliadin and antitransglutaminase positive despite  

> strictly gluten free diet.

>

> The patient (RM) presents negative celiac serology. HLA is not  

> compatible with celiac disease.  Intraepitelial lymphocytes are not  

> compatible with CD (in 2002 and now). Antienterocyte antibodies are  

> also negative (in 2002 and now).  CD25+ and FOXP3+ are in normal   

> range (this month). She has persistent IgE elevation (around 1000 IU/ 

> mL). Anti TPO levels were slightly elevated once (Dec´08) but now  

> are in normal range. Anti PCA (parietal cell antibodies are slightly  

> positive: 1/80 ) ANA + 1/40 (normal) .  We have ruled out food  

> allergies.  IgG,A,M normal. Lymphocyte subpopulations: normal.

> She is now admitted for severe diarrhea and malnutrition.

>

> We are not sure about starting steroid therapy. We'd really  

> appreciate helpful suggestions about diagnosis and treatment.

>

> Share your memories online with anyone you want anyone you want.


Kathleen Sullivan MD PhD
Professor of Pediatrics
Chief, Division of Allergy Immunology
The Children's Hospital of Philadelphia
(p) 215-590-1697
(f) 267-426-0363




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