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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, Vol. 30, No. 2, 03.2010, p. 314-20.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Rohr, J, Pannicke, U, Döring, M, Schmitt-Graeff, A, Wiech, E, Busch, A, Speckmann, C, Müller, I, Lang, P, Handgretinger, R, Fisch, P, Schwarz, K & Ehl, S 2010, 'Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency', J CLIN IMMUNOL, vol. 30, no. 2, pp. 314-20. https://doi.org/10.1007/s10875-009-9349-x

APA

Rohr, J., Pannicke, U., Döring, M., Schmitt-Graeff, A., Wiech, E., Busch, A., Speckmann, C., Müller, I., Lang, P., Handgretinger, R., Fisch, P., Schwarz, K., & Ehl, S. (2010). Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency. J CLIN IMMUNOL, 30(2), 314-20. https://doi.org/10.1007/s10875-009-9349-x

Vancouver

Rohr J, Pannicke U, Döring M, Schmitt-Graeff A, Wiech E, Busch A et al. Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency. J CLIN IMMUNOL. 2010 Mar;30(2):314-20. https://doi.org/10.1007/s10875-009-9349-x

Bibtex

@article{2335fb216a9c443a8394599f297594fc,
title = "Chronic inflammatory bowel disease as key manifestation of atypical ARTEMIS deficiency",
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 na{\"i}ve 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.",
keywords = "Cell Line, Child, Cloning, Molecular, DNA Mutational Analysis, Diagnosis, Differential, Disease-Free Survival, Female, Genes, T-Cell Receptor, Hematopoietic Stem Cell Transplantation, Humans, Immunologic Deficiency Syndromes, Immunophenotyping, Inflammatory Bowel Diseases, Lymphopenia, Lymphopoiesis, Mutation, Nuclear Proteins, Transfection, Ulcer",
author = "Jan Rohr and Ulrich Pannicke and Michaela D{\"o}ring and Annette Schmitt-Graeff and Elisabeth Wiech and Andreas Busch and Carsten Speckmann and Ingo M{\"u}ller and Peter Lang and Rupert Handgretinger and Paul Fisch and Klaus Schwarz and Stephan Ehl",
year = "2010",
month = mar,
doi = "10.1007/s10875-009-9349-x",
language = "English",
volume = "30",
pages = "314--20",
journal = "J CLIN IMMUNOL",
issn = "0271-9142",
publisher = "Springer New York",
number = "2",

}

RIS

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 -