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J Clin Immunol. 2010 Mar;30(2):314-20. doi: 10.1007/s10875-009-9349-x. Epub 2009 Dec 5.

Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency.

Author information

1
Centre of Pediatrics and Adolescent Medicine, University Medical Center, Freiburg, Germany.

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 gamma/delta 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.

PMID:
19967552
DOI:
10.1007/s10875-009-9349-x
[Indexed for MEDLINE]

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