[PAGID] Possible Autoimmune enteropathy

[Ciaccio, Christina, E]

Sorry.  No, a molecular cause of SCID was never established in the cousin.

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)

-----Original Message-----
From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of stephan.ehl at uniklinik-freiburg.de
Sent: Wednesday, June 30, 2010 2:28 AM
To: pagid at list.clinimmsoc.org
Subject: Re: [PAGID] Possible Autoimmune enteropathy

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]