[PAGID] familial colitis, lymphoma, PID?

[Verbsky, James]

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<mailto:jverbsky at mcw.edu>
verbskyj at yahoo.com<mailto: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<mailto: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<mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it<mailto: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<mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it<mailto: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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