Novel mutation in STXBP2 prevents IL-2–induced natural killer cell cytotoxicity Rushani W. Saltzman, MD, Linda Monaco-Shawver, BA, Kejian Zhang, MD, MBA,

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Presentation transcript:

Novel mutation in STXBP2 prevents IL-2–induced natural killer cell cytotoxicity Rushani W. Saltzman, MD, Linda Monaco-Shawver, BA, Kejian Zhang, MD, MBA, Kathleen E. Sullivan, MD, PhD, Alexandra H. Filipovich, MD, Jordan S. Orange, MD, PhD Journal of Allergy and Clinical Immunology Volume 129, Issue 6, Pages 1666-1668 (June 2012) DOI: 10.1016/j.jaci.2011.12.1003 Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 A, Hemophagocytes noted on bone marrow (×100 magnification). Paraffin immunohistochemistry for CD163 (a marker for histiocytes) performed on the bone marrow biopsy shows numerous activated histiocytes, many of which have round nuclei and ample cytoplasm. Occasional histiocytes show multiple nuclei, or lucencies, consistent with hemophagocytosis. B, Family tree and STXBP2 gene mutation analysis. Journal of Allergy and Clinical Immunology 2012 129, 1666-1668DOI: (10.1016/j.jaci.2011.12.1003) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 A, NK cell cytotoxicity in resting PBMCs was assessed against K562 cells. Dashed lines (B and C) represent short-term IL-2 stimulation in vitro. Antibody-dependent cellular cytotoxicity was determined by the in vitro addition of rituximab and is represented by dotted lines (D). Journal of Allergy and Clinical Immunology 2012 129, 1666-1668DOI: (10.1016/j.jaci.2011.12.1003) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions