Abstract
Introduction
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.
Results and Discussion
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.
Conclusion
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.
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Abbreviations
- EDA-ID:
-
anhidrotic ectodermal dysplasia with immunodeficiency
- HSCT:
-
hematopoietic stem cell transplantation
- IBD:
-
inflammatory bowel disease
- IPEX:
-
immunodysregulation, polyendocrinopathy, enteropathy, X-linked
- TCR:
-
T cell receptor
- WAS:
-
Wiskott-Aldrich syndrome
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Acknowledgements
This work was supported by the Bundesministerium für Bildung und Forschung (BMBF 01 EO 0803). We acknowledge the excellent technical assistance of S. Braun, I. Janz, and E. M. Rump.
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Jan Rohr and Ulrich Pannicke contributed equally to this work.
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K.S., S.E.: German Ministry of Education and Science (BMBF 01 EO 0803).
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Rohr, J., Pannicke, U., Döring, M. et al. Chronic Inflammatory Bowel Disease as Key Manifestation of Atypical ARTEMIS Deficiency. J Clin Immunol 30, 314–320 (2010). https://doi.org/10.1007/s10875-009-9349-x
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DOI: https://doi.org/10.1007/s10875-009-9349-x