[PAGID] familial colitis, lymphoma, PID?

[Michael Albert]

Thanks! Good point. CD25 is expressed by FACS.

On Tue, Jun 30, 2009 at 9:59 PM, Verbsky, James <jverbsky at mcw.edu> wrote:


>  To all

>

> Sorry if I repeated my suggestions as there were several similar cases.

> Chronic EBV infections, stomatits, enterocolitis, and recurrent infections

> can also be seen in CD25 deficiency.  These patients are particularly prone

> to chronic herpetic infections (CMV, EBV).  We described a patient who also

> had autoimmune manifestations (hypothyroidism, diabetes, hemolytic anemia)

> but Dr Roifman had a patient with only EBV and enterocolitis.  Would check

> CD25 expression.

>

> James

>

> James W. Verbsky M.D./Ph.D.

> Assistant Professor of Pediatrics and Microbiology and Molecular Genetics

> Medical College of Wisconsin

> Children's Corporate Center

> Pediatric Rheumatology, Suite C465

> 9000 W. Wisconsin Ave., PO Box 1997

> Milwaukee, WI 53201-1997

> (work) 414-266-6585

> (pager) 414-907-3134

> (fax) 414-266-6695

> *jverbsky at mcw.edu* <jverbsky at mcw.edu>

> *verbskyj at yahoo.com* <verbskyj at yahoo.com>

>

>

>  ------------------------------

> *From:* pagid-bounces at list.clinimmsoc.org [mailto:

> pagid-bounces at list.clinimmsoc.org] *On Behalf Of *Michael Albert

> *Sent:* Tuesday, June 30, 2009 8:48 AM

> *To:* pagid at list.clinimmsoc.org

> *Subject:* Re: [PAGID] familial colitis, lymphoma, PID?

>

>   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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