[PAGID] familial colitis, lymphoma, PID?

[Eleonora Gambineri]

Hi Michael,

I would also strongly suggest to contact Bodo!

Best,

*******************************************************************
Dott.ssa Eleonora Gambineri
Ricercatore Universitario
Universita' degli Studi di Firenze
Dipartimento di Pediatria-Ospedale Pediatrico "Anna Meyer"
Viale Gaetano Pieraccini, 24
50139 FIRENZE
Tel 055 5662405 (ufficio)
        055 5662464 (lab)
Fax 055 4221012
e-mail: eleonora.gambineri at unifi.it; e.gambineri at meyer.it

Eleonora Gambineri, MD
Researcher/Assistant Professor
University of Florence
Department of Pediatrics-"Anna Meyer" Children's Hospital
Viale Gaetano Pieraccini, 24
50139 FIRENZE
ITALY
Tel +39 055 5662405 (office)
        +39 055 5662464 (lab)
Fax +39 055 4221012
e-mail: eleonora.gambineri at unifi.it; e.gambineri at meyer.it
********************************************************************





On 25/giu/09, at 19:43, 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

>


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