[PAGID] Antwort: Re: familial colitis, lymphoma, PID?
stephan.ehl at uniklinik-freiburg.de
stephan.ehl at uniklinik-freiburg.de
Fri Jun 26 01:28:50 EDT 2009
Contact Bodo Grimbacher in London. He has a new gene, that should be
sequenced in this family
Beste Grüße
Prof. Dr. Stephan Ehl
Wissenschaftlicher Direktor
CCI - Centre of Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG UFK
Hugstetter Straße 55, 79106 Freiburg i. Brsg., Germany
phone: +49(0)761.270-7730
Sekretariat +49(0)761.270-7755 fax +49(0)761.270-7760
e-mail: stephan.ehl at uniklinik-freiburg.de
"Berger, Melvin"
<Melvin.Berger at UH
hospitals.org> An
Gesendet von: <pagid at list.clinimmsoc.org>
pagid-bounces at lis Kopie
t.clinimmsoc.org
Thema
Re: [PAGID] familial colitis,
26.06.2009 03:10 lymphoma, PID?
Bitte antworten
an
pagid at list.clinim
msoc.org
Two questions: I'm not exactly sure why: ? NK function, ? altered
regulation of NF-kB pathway
Melvin Berger, M.D., Ph.D.
Adjunct Professor of Pediatrics and Pathology
Case Western Reserve University
phone 216 844 3237
Director, Jeffrey Modell Center for Primary Immune Deficiencies
Division of Allergy-Immunology
Rainbow, Babies and Children's Hospital
University Hospitals of Cleveland
RB&C Rm 504, MS 6008B
11100 Euclid Ave.
Cleveland, OH 44106
________________________________
From: pagid-bounces at list.clinimmsoc.org on behalf of Michael Albert
Sent: Thu 6/25/2009 1:43 PM
To: pagid at list.clinimmsoc.org
Subject: [PAGID] familial colitis, lymphoma, PID?
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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