Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency

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


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line
  • Child
  • Cloning, Molecular
  • DNA Mutational Analysis
  • DNA-Binding Proteins
  • Diagnosis, Differential
  • Disease-Free Survival
  • Endonucleases
  • Female
  • Genes, T-Cell Receptor / genetics
  • Hematopoietic Stem Cell Transplantation
  • Humans
  • Immunologic Deficiency Syndromes / complications
  • Immunologic Deficiency Syndromes / diagnosis*
  • Immunologic Deficiency Syndromes / genetics*
  • Immunologic Deficiency Syndromes / physiopathology
  • Immunologic Deficiency Syndromes / therapy
  • Immunophenotyping
  • Inflammatory Bowel Diseases / complications
  • Inflammatory Bowel Diseases / diagnosis*
  • Inflammatory Bowel Diseases / genetics*
  • Inflammatory Bowel Diseases / physiopathology
  • Inflammatory Bowel Diseases / therapy
  • Lymphopenia
  • Lymphopoiesis / genetics
  • Mutation / genetics
  • Nuclear Proteins / genetics*
  • Nuclear Proteins / immunology
  • Nuclear Proteins / metabolism
  • Transfection
  • Ulcer


  • DNA-Binding Proteins
  • Nuclear Proteins
  • DCLRE1C protein, human
  • Endonucleases