[PAGID] Possible Autoimmune enteropathy

[Dewton Vasconcelos]

Hi Christina, good afternoon

What about the possibilities of CD25 and IL2?
They present with autoimmunity and immunodeficiency (sometimes like a 
leaky SCID) and are similar to IPEX without gender predominance.

All the best,

Dewton Vasconcelos
University of São Paulo School of Medicine

Ciaccio, Christina, E escreveu:

> Sorry for the lengthy email.  I have I case I wanted to run by everyone

> (and tried to present as concisely as possible).

>

> I am seeing a 10 month old girl who has been hospitalized since 2 months

> of age with chronic bloody diarrhea.  Her biopsy on presentation showed

> severe chronic inflammation of the stomach, duodenum and colon.

> ("apoptosis within the crypts of the gastric mucosa, segmental goblet

> cells depletion within the duodenal mucosa, and active ulcerative

> process within the colonic mucosa").  The pathologist suggested

> diagnoses of autoimmune enteropathy vs. inflammatory bowel disease.

> Considering her age of presentation, we were consulted to rule out

> immunodeficiency.

>

> Her IBD panel was negative and anti-enterocyte and anti-goblet cell

> antibodies were not found.  At 2 months, her B, T, and NK cells were

> normal.  Mitogen stimulation was normal.  IRAK-4, AIRE, TLR signaling

> was all normal.  HIV negative. Adhesion molecules were normal.

> Oxidative burst was normal.  She had detectable IgA, IgE and IgM.  Her

> IgG has been low but not replaced as she has protein losing enteropathy

> and has had only 1 infection requiring antibiotics to date.  Off

> treatment, she has peripheral eosinophilia as high as 2000. 

>

> Her treatment course is below:

> -Mycophenolate with no normal levels

> -Cyclosporin- developed good levels but not a good clinical response,

> also had bad hirsutism and gingival hyperplasia

> -Tacrolimus- developed better clinical response with goal troughs of

> 12-16 but could get no further clinical improvement

> -Remicade- no detectable levels though treated with doses of 7mg/kg x2

> and 10mg/kg x1, developed + antibodies after 3 doses

> -Entocort- amazing clinical response with stable albumin and hemoglobin,

> tolerance now to feeds and lack of vomiting

>   

> A 1st degree cousin was well known to our service. She had a similar

> presentation at the same age, but her immune evaluation revealed low

> CD3+ (low CD4+ and CD8+) cells and low IgG with normal B and NK cell

> numbers.  Her mother (sister of our current patient's mother) has

> autoimmune disease.  She was started on IVIG and later had no response

> to bacteriophage.  She never developed other autoimmune disease.  After

> much debate across several institutions, she was diagnosed with SCID and

> went to transplant.  She passed as a result of very aggressive graft vs.

> host. 

>

> Any opinion about where to go for diagnosis from here?  We have talked

> about NOD2, FoxP3, TGF-beta (IL-10 is pending), Artemis, RAG...

>

> Thanks so much

>

> Christina Ciaccio, M.D.

> Faculty, Allergy, Asthma and Immunology

> Children's Mercy Hospitals and Clinics

> 2401 Gillham Road

> Kansas City, Missouri  64108

> 816-234-3097 (phone)

> 816-346-1301 (fax)

>

>

>

>   


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