[PAGID] familial colitis, lymphoma, PID?

[Michael Albert]

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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