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- Title
Chronic Inflammatory Bowel Disease as Key Manifestation of Atypical ARTEMIS Deficiency.
- Authors
Rohr, Jan; Pannicke, Ulrich; Döring, Michaela; Schmitt-Graeff, Annette; Wiech, Elisabeth; Busch, Andreas; Speckmann, Carsten; Müller, Ingo; Lang, Peter; Handgretinger, Rupert; Fisch, Paul; Schwarz, Klaus; Ehl, Stephan
- Abstract
We describe a girl presenting at age 6 years with a history of chronic ulcerating intestinal inflammation since 9 months of age. She exhibited a severe, steroid-dependent clinical course of intestinal inflammation over several years in the absence of serious infections. Immunodeficiency was first considered at 6 years of age due to chronic lymphopenia. Immunophenotyping revealed low B and T cell counts with few naïve T cells, a skewed TCR repertoire, and TCR γ/δ T cell predominance, suggesting a defect of lymphocyte development. Genetic and functional analyses identified a hypomorphic mutation in the DCLRE1C (ARTEMIS) gene compromising V(D)J recombination efficiency, but allowing residual T and B cell development. Hematopoetic stem cell transplantation reconstituted the lymphocyte compartment and cured the inflammatory bowel disease. This report illustrates that a genetic disorder of lymphocyte development can present with chronic inflammatory bowel disease as the dominant phenotype in the absence of severe infection susceptibility.
- Subjects
INTESTINAL diseases; INFLAMMATION; INFLAMMATORY bowel diseases; LYMPHOPENIA; T cells; STEROIDS
- Publication
Journal of Clinical Immunology, 2010, Vol 30, Issue 2, p314
- ISSN
0271-9142
- Publication type
Article
- DOI
10.1007/s10875-009-9349-x