[PAGID] Possible Autoimmune enteropathy

[Sabiha Anis]

May be looking at functional NK defect may give clue in such cases.  I have encountered a case with autoimmune GI manifestation with NK defect.  


Regards

 

Sabiha Anis

Clinical Immunologist

Sindh Institute of Urology and Transplatation (SIUT)

Karachi, Pakistan

 

> Date: Wed, 30 Jun 2010 10:13:14 -0500

> From: ceciaccio at cmh.edu

> To: pagid at list.clinimmsoc.org

> Subject: Re: [PAGID] Possible Autoimmune enteropathy

> 

> 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]

> 

 		 	   		  
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