[PAGID] Possible Autoimmune enteropathy
stephan.ehl at uniklinik-freiburg.de
stephan.ehl at uniklinik-freiburg.de
Wed Jun 30 03:28:14 EDT 2010
Dear Christina,
was a molecular cause established in the cousin?
if considering SCID, determination of naive T cells and a V beta panel
would be helpful.
If these are normal, considering her normal T cell numbers and
proliferation, I would think that a SCID variant is excluded.
Beste Grüße
Prof. Dr. Stephan Ehl
Wissenschaftlicher Direktor
CCI - Centre of Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Breisacher Str. 117 - 2. OG, 79106 Freiburg i. Brsg., Germany
phone: +49(0)761.270-7730
Sekretariat +49(0)761.270-7755 fax +49(0)761.270-7760
e-mail: stephan.ehl at uniklinik-freiburg.de
Von: Dewton Vasconcelos <dmvascon at usp.br>
An: pagid at list.clinimmsoc.org, ceciaccio at cmh.edu
Datum: 29.06.2010 22:10
Betreff: Re: [PAGID] Possible Autoimmune enteropathy
Gesendet von: pagid-bounces at list.clinimmsoc.org
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)
>
>
>
>
[Anhang "dmvascon.vcf" gelöscht von Stephan Ehl/CCI/UKLFR]
More information about the PAGID
mailing list