[PAGID] familial colitis, lymphoma, PID?

[Berger, Melvin]

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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