[PAGID] familial colitis, lymphoma, PID?

[Michael Albert]

Hi everybody,
thank you for your suggestions.
The two genes described by B. Grimbacher and C. Klein in similar patients
(IL10rbeta and IL10Ralpha) havee both been excluded, even though the
phenotype is very similar to these patients.
Sincerely
Michael

On Fri, Jun 26, 2009 at 9:38 AM, Eleonora Gambineri <
eleonora.gambineri at unifi.it> wrote:


> 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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