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

[Terri Tarrant]

Therapeutically, we have been able to get our worst CVID autoimmune
enteropathy patient off TPN on Cellcept 500 mg po bid x 1 month, then
increasing to 1000 mg po bid.  It works quickly, and if you are
worried about po absorption, you can use IV to start with.
Diagnostically, what is the immunohis of the bowel biopsy show?
Usually it is T lymphocytic, so Rituxan may not work.  Have you
thoroughly worked up infection since this patient has been well
controlled in the past for many years, and now is very
immunosuppressed?

Terri Tarrant, MD
Assistant Professor of Medicine
Thurston Arthritis Research Center
Lineberger Cancer Center Member
CB # 7280, 3300 Manning Dr.
Chapel Hill, NC 27599
(919) 843-4727
http://tarc.med.unc.edu/tarrant_welcome.php

On Fri, May 18, 2012 at 9:37 AM, Dewton Vasconcelos <dmvascon at usp.br> wrote:

> 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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