[CIS-PAGID] 16 yr old boy with difficult to control Autoimmune Enteropathy

[Dewton Vasconcelos]

Hi Jane, good morning

Does he have any real evidence of autoimmunity (autoantibodies)? Normal 
levels of Ig?
Normal growth? Any abnormal features?
We could think in the possibility of IL-10 / IL-10 R deficiency, 
CARD15/NOD2 mutations, CD25, STAT5b deficiencies etc.

Best regards,

Dewton

Dewton de Moraes Vasconcelos
University of São Paulo School of Medicine

Jane Peake wrote:

> Hi

> I would appreciate any thoughts regarding management of this difficult case.

>

> Initial presentation age 9 months with diarrhoea and poor weight gain

> - Duodenal biopsies (on gluten free diet) total absence of villi, inflammatory infiltrate

> - Diagnosed as autoimmune enteropathy

> - Good clinical response to steroids; also required period on TPN	

> - Maintained on Cyclosporine - gradually weaned off

> - Off all treatment by ~ 4yrs of age

>

> Relapse 2004 (age 8):

> - Presented with severe watery diarrhoea

> - Partial villous atrophy and inflammatory infiltrate

> - Treated with steroids, then maintained on Tacrolimus with good control

>

> Relapse 2008 (age 12):

> - Over next couple of years treatments tried (and in various combinations) sirolimus, pulse methyl prednisolone, azathioprine, Tacrolimus, infliximab

> - Currently on azathioprine, tacrolimus, prednisone

> - Over last 4 years TPN dependent, completely intolerant of any oral intake including amino acid formulas

> - Still has 2-3 vomits daily and approx 3 loose bowel motions daily

> - Anti-enterocyte Ab - neg; FOXP3 expression normal

> - Only other Hx of note: R renal artery stenosis following investigation for hypertension - R nephrectomy 1998

> - No other problems at all

> - Life is miserable for him!!

>

>

> I was considering Rutuximab but am unable to find any literature on the use of this in this setting. Any thoughts would be very much appreciated.

>

> Kind regards Jane

>

>

> Dr Jane Peake

> Paediatric Immunologist and Allergist

> Senior Lecturer

> University of Queensland

> level 3 Foundation Building

> Royal Children's Hospital

> Herston Rd, Herston QLD 4029

> Tel (61 7) 33655333 or 36365059

> Fax (61 7) 33655455

>

>

>

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