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  Antiviral and Regulatory T Cell Immunity in a Patient with Stromal Interaction Molecule 1 Deficiency

Fuchs, S., Rensing-Ehl, A., Speckmann, C., Bengsch, B., Schmitt-Graeff, A., Bondzio, I., et al. (2012). Antiviral and Regulatory T Cell Immunity in a Patient with Stromal Interaction Molecule 1 Deficiency. The Journal of Immunology, 188, 1523-1533.

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 Creators:
Fuchs, Sebastian, Author
Rensing-Ehl, Anne, Author
Speckmann, Carsten, Author
Bengsch, Bertram, Author
Schmitt-Graeff, Annette, Author
Bondzio, Ilka, Author
Maul-Pavicic, Andrea1, Author              
Bass, Thilo1, Author              
Vraetz, Thomas, Author
Strahm, Brigitte, Author
Ankermann, Tobias, Author
Benson, Melina, Author
Caliebe, Almuth, Author
Fölster-Holst, Regina, Author
Kaiser, Petra, Author
Thimme, Robert, Author
Schamel, Wolfgang W.1, Author              
Schwarz, Klaus2, Author              
Feske, Stefan, Author
Ehl, Stephan, Author
Affiliations:
1Research Group and Chair of Molecular Immunology of the University of Freiburg, Max Planck Institute of Immunobiology and Epigenetics, Max Planck Society, ou_2243645              
2Department of Cellular and Molecular Immunology, Max Planck Institute of Immunobiology and Epigenetics, Max Planck Society, ou_2243641              

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 Abstract: Stromal interaction molecule 1 (STIM1) deficiency is a rare genetic disorder of store-operated calcium entry, associated with a complex syndrome including immunodeficiency and immune dysregulation. The link from the molecular defect to these clinical manifestations is incompletely understood. We report two patients with a homozygous R429C point mutation in STIM1 completely abolishing store-operated calcium entry in T cells. Immunological analysis of one patient revealed that despite the expected defect of T cell proliferation and cytokine production in vitro, significant antiviral T cell populations were generated in vivo. These T cells proliferated in response to viral Ags and showed normal antiviral cytotoxicity. However, antiviral immunity was insufficient to prevent chronic CMV and EBV infections with a possible contribution of impaired NK cell function and a lack of NKT cells. Furthermore, autoimmune cytopenia, eczema, and intermittent diarrhea suggested impaired immune regulation. FOXP3-positive regulatory T (Treg) cells were present but showed an abnormal phenotype. The suppressive function of STIM1-deficient Treg cells in vitro, however, was normal. Given these partial defects in cytotoxic and Treg cell function, impairment of other immune cell populations probably contributes more to the pathogenesis of immunodeficiency and autoimmunity in STIM1 deficiency than previously appreciated.

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Language(s): eng - English
 Dates: 2012
 Publication Status: Published in print
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 Rev. Type: Peer
 Identifiers: eDoc: 641217
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Title: The Journal of Immunology
Source Genre: Journal
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Pages: - Volume / Issue: 188 Sequence Number: - Start / End Page: 1523 - 1533 Identifier: -