[PAGID] familial colitis, lymphoma, PID?

[Kathleen E. Sullivan]

Might want to contact Bodo Grimbacher who has identified a gene defect  
in early onset Crohns where you could plausibly imagine an increased  
risk of lymphoma.


On Jun 25, 2009, at 1:43 PM, Michael Albert wrote:


> Dear all,

>

> I would like to present a puzzling case to this community and ask  

> for some help:

>

> 6y old boy from consanguineous parents from Afghanistan

>

> first presentation at 2 weeks of age with aphthous stomatitis

> recurrent stomatitis

> recurrent perianal abscesses from the age of 2 months

> severe ulcerative pancolitis which has improved over the years

> failure to thrive

> recurrent mostly viral and bacterial infections (otitis,  

> pneumonia, ..)

> prolonged EBV infection, eventually resulting in positive EBNA IgG

> now diagnosed with CD20 positive diffuse large cell B-NHL of the gut  

> (EBV negative!)

>

> 2y old sister

>

> severe colitis

> recurrent abscesses

> recurrent infections

>

> cousin (whose parents are both related with the parents of our family)

>

> recurrent stomatitis

> severe colitis

> died from bacterial sepsis in early childhood

>

> In our patient we have done the following:

> WBC, Hgb and platelets normal

> IgG, IgA, IgM, IgD normal, IgE elevated (150)

> good immunization response to tetanus and pneumococci

> IgG subclass analysis: normal

> lymphocyte subpopulations: repeatedly normal, low CD4 once during  

> infancy

> lymphocyte stimulation: repeatedly normal

> B-cell phenotyping: normal B-cell development and normal switched  

> memory B-cells

> DHR and NBT: normal

> ADA, PNP: normal enzyme levels

> C3, C4: normal

> no maternal engraftment

> CD11/CD18: normal expression

> chromosomal breakage: no increased radiation sensitivity

> molecular genetics: XLP (done before the affected sister was born),  

> TRAPS, mediterranean fever: no mutation

>

> We'd really appreciate helpful suggestions,

> Sincerely,

> Michael

>

>

>

>

>

> Michael Albert, MD

>

> Assistant Professor

>

> Department of Pediatric Hematology/Oncology

>

> Head SCT Program

>

> Dr. von Haunersches Kinderspital der LMU

>

> Lindwurmstr.4

>

> 80337 München

>

> Germany

>

> Tel: +49 89 5160 2811

>

> Fax: +49 89 5160 4719

>


Kathleen E. Sullivan MD PhD
Chief, Division of Allergy and Immunology
Professor of Pediatrics
The Children's Hospital of Philadelphia
(p) 215-590-1697
(f) 267-426-0363


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