[PAGID] AT patient with enteritis

[dmvascon at usp.br]

Dear Andrew

There are some references about the association of AT with hyper IgM,  
that might be interesting to see.


Noordzij JG, Wulffraat NM, Haraldsson A, Meyts I, van't Veer LJ,  
Hogervorst FB, Warris A, Weemaes CM.
Ataxia-telangiectasia patients presenting with hyper-IgM syndrome.  
Arch Dis Child. 2009 Jun;94(6):448-9. Epub 2009 Feb 17.

Pietrucha BM, Heropolita?ska-Pliszka E, Wakuli?ska A, Skopczy?ska H,  
Gatti RA, Bernatowska E.
Ataxia-telangiectasia with hyper-IgM and Wilms tumor: fatal reaction  
to irradiation.
J Pediatr Hematol Oncol. 2010 Jan;32(1):e28-30.

As a matter of fact, it is difficult to prove autoimmunity without  
specific autoantibodies. Do your patient present autoantibodies  
directed to GI tract?
is there deposition of IgA, IgG or complement in the biopsies?
Despite the use of prednisone and rituximab his GI manifestations did  
not improve, so tacrolimus or sirolimus could be useful, but I don't  
have experience in the use of these medications in patients presenting  
clinical features like yours.

Good luck and all the best

Dewton





Citando Andrew Zeft <Andrew.Zeft at hsc.utah.edu>:


> Dear Immunology Community,

>

> I have a patient with ataxia telangiectasia who has developed an  

> autoimmune enteropathy with upper GI endoscopy identifying moderate  

> villus atrophy with crypt hyperplasia and increased intraepithelial  

> lymphocytes.

> His massive ascites has improved with diuretic therapy, but he has  

> become quite malnourished with pronounced hypoalbuminemia. He  

> currently receives NG feeds at night to suppliment his gluton free  

> diet.

>

> I am considering treatment with Tacrolimus.

>

> Do people have suggestions to support this or offer other  

> suggestions? He was treated with Rituximab 5/09 for his interstitial  

> pneumonitis (recent abs CD19 <1) and remains on high dose IVIG  

> monthly. Also his loose stools begain while on prednisone.

>

> Further description of case below:

>

> 5 yo male patient with Ataxia Telangiectasia who presented to us at  

> 3 years of age with unsteady gait, ocular and auricular  

> telangiectasias, leukopenia, and pronounced hepatosplenomegaly.  

> Further workup revealed elevated IgM (1160) and absent IgG and IgA.  

> Diptheria/tetanus administration stimulated no specific antibody  

> production. ATM protein was not detected by western blot. ATM gene  

> sequencing revealed 2 mutations (Nt 1446 del A, Nt 7638 del TAG  

> AATTTC). At 4 years of age he developed a chronic cough and fever.  

> Workup revealed an interstitial pneumonitis. Hypoxia only partially  

> improved with high dose steroids, so the patient's IVIG dose was  

> increased to 2 g/kg/month and dosed with Rituximab (750 mg/m2 x 4).  

> His steroids were weaned and since he has remained with adequate  

> saturations. On steroids he developed severe diarrhea and ascites  

> with hypoalbuminemia. Upper GI endoscopy identified moderate villus  

> atrophy with crypt hyperplasia and increased intraepithelial  

> lymphocytes. A liver biopsy was also performed which revealed  

> steatosis with bridging fibrosis and chronic triaditis, with no  

> regenerative nodules to confirm cirrhosis. Bone marrow, lymph node,  

> intestinal, and liver biopsies have not identified an oncologic or  

> lymphoproliferative process. Maternal chimerism studies and  

> peripheral T & B cell clonality studies have been negative. Ongoing  

> infectious disease work up has been negative.

>

> Thank you for your input.

>

> Andy

>

> Andrew Zeft, MD

> Assistant Professor of Pediatrics

> Division of Immunology and Rheumatology

> University of Utah

>

>

>



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