A 30-year-old man with underlying Wiskott-Aldrich syndrome, which is a rare X-linked congenital immunodeficiency syndrome characterized by recurrent infections, thrombopenia, eczema and hematopoietic malignancies, presented with bloody diarrhea. Endoscopic and histological evaluation was compatible with ulcerative colitis. Congenital immune defects are paralleled by enterocolitis mimicking inflammatory bowel disease in a substantial number of patients. Despite therapy with prednisolone and 5-ASA compounds, the patient described here experienced a relapse of the colitis twice. Subsequently a JC virus infection of the central nervous system was diagnosed, and he died due to progressive multifocal leukencephalopathy.
References
-
1
Akman I O, Ostrov B E, Neudorf S.
Autoimmune manifestations of the Wiskott-Aldrich syndrome.
Semin Arthritis Rheum.
1998;
27
218-225
-
2
Teahon K, Webster A D, Price A B. et al .
Studies on the enteropathy associated with primary hypogammaglobulinemia.
Gut.
1994;
35
1244-1249
-
3
Washington K, Stenzel T T, Buckley R H, Gottfried M R.
Gastrointestinal pathology in patients with common variable immunodeficiency and X-linked agammaglobulinemia.
Am J Surg Pathol.
1996;
20
1240-1252
-
4
Doe W F.
Immunodeficiency and the gastrointestinal tract.
Clin Gastroenterol.
1983;
12
839-853
-
5
Featherstone C.
The many faces of WAS protein.
Science.
1997;
275
27-28
-
6
Remold-O'Donell E, Rosen F, Kenney D M.
Defects in Wiskott-Aldrich syndrome blood cells.
Blood.
1996;
87
2621-2631
-
7
Snapper S B, Rosen F S.
The Wiskott-Aldrich syndrome protein (WASP): roles in signaling and cytoskeletal organization.
Annu Rev Immunol.
1999;
17
905-929
-
8
Snapper S B, Rosen F S, Mizoguchi E. et al .
Wiskott-Aldrich syndrome protein-deficient mice reveal a role for WASP in T but not B cell activation.
Immunity.
1998;
9
81-91
-
9
Cellier C, Foray S, Hermine O.
Regional enteritis associated with enterovirus in a patient with X-linked agammaglobulinemia.
N Engl J Med.
2000;
342
1611-1612
-
10
Abramowsky C R, Sorensen R U.
Regional enteritis-like enteropathy in a patient with agammaglobulinemia: histologic and immunocytologic studies.
Hum Pathol.
1988;
19
483-486
-
11
Folwaczny C, Born C, Loeschke K.
Closure of an enterocutaneous fistula by high dose intravenous immune globulin therapy in a patient with X-linked agammaglobulinemia.
Am J Gastroenterol.
2001;
96
1954-1955
C. Folwaczny, M.D.
Medizinische Poliklinik Innenstadt · Ludwig-Maximilians-Universität München
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