Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency
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Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency. / 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.
in: J CLIN IMMUNOL, Jahrgang 30, Nr. 2, 03.2010, S. 314-20.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency
AU - Rohr, Jan
AU - Pannicke, Ulrich
AU - Döring, Michaela
AU - Schmitt-Graeff, Annette
AU - Wiech, Elisabeth
AU - Busch, Andreas
AU - Speckmann, Carsten
AU - Müller, Ingo
AU - Lang, Peter
AU - Handgretinger, Rupert
AU - Fisch, Paul
AU - Schwarz, Klaus
AU - Ehl, Stephan
PY - 2010/3
Y1 - 2010/3
N2 - 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.
AB - 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.
KW - Cell Line
KW - Child
KW - Cloning, Molecular
KW - DNA Mutational Analysis
KW - Diagnosis, Differential
KW - Disease-Free Survival
KW - Female
KW - Genes, T-Cell Receptor
KW - Hematopoietic Stem Cell Transplantation
KW - Humans
KW - Immunologic Deficiency Syndromes
KW - Immunophenotyping
KW - Inflammatory Bowel Diseases
KW - Lymphopenia
KW - Lymphopoiesis
KW - Mutation
KW - Nuclear Proteins
KW - Transfection
KW - Ulcer
U2 - 10.1007/s10875-009-9349-x
DO - 10.1007/s10875-009-9349-x
M3 - SCORING: Journal article
C2 - 19967552
VL - 30
SP - 314
EP - 320
JO - J CLIN IMMUNOL
JF - J CLIN IMMUNOL
SN - 0271-9142
IS - 2
ER -