title: Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency.
abstract: BACKGROUND
  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.
  
  
  CONCLUSIONS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Centre of Pediatrics and Adolescent Medicine, University Medical Center, Freiburg, Germany.
authors.forename: Jan
authors.initials: J
authors.lastname: Rohr
authors.forename: Ulrich
authors.initials: U
authors.lastname: Pannicke
authors.forename: Michaela
authors.initials: M
authors.lastname: Döring
authors.forename: Annette
authors.initials: A
authors.lastname: Schmitt-Graeff
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Wiech
authors.forename: Andreas
authors.initials: A
authors.lastname: Busch
authors.forename: Carsten
authors.initials: C
authors.lastname: Speckmann
authors.forename: Ingo
authors.initials: I
authors.lastname: Müller
authors.forename: Peter
authors.initials: P
authors.lastname: Lang
authors.forename: Rupert
authors.initials: R
authors.lastname: Handgretinger
authors.forename: Paul
authors.initials: P
authors.lastname: Fisch
authors.forename: Klaus
authors.initials: K
authors.lastname: Schwarz
authors.forename: Stephan
authors.initials: S
authors.lastname: Ehl
mesh_terms: D002460:Cell Line; D002648:Child; D003001:Cloning, Molecular; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins; D003937:Diagnosis, Differential; D018572:Disease-Free Survival; D004720:Endonucleases; D005260:Female; D019672:Genes, T-Cell Receptor / Q000235:genetics; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D016130:Immunophenotyping; D015212:Inflammatory Bowel Diseases / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D008231:Lymphopenia; D038041:Lymphopoiesis / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics* / Q000276:immunology / Q000378:metabolism; D014162:Transfection; D014456:Ulcer
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C426344:DCLRE1C protein, human; D004720:Endonucleases