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Defective natural killer–cell cytotoxic activity in NFKB2-mutated CVID-like disease  Vassilios Lougaris, MD, Giovanna Tabellini, PhD, Massimiliano Vitali,

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Presentation on theme: "Defective natural killer–cell cytotoxic activity in NFKB2-mutated CVID-like disease  Vassilios Lougaris, MD, Giovanna Tabellini, PhD, Massimiliano Vitali,"— Presentation transcript:

1 Defective natural killer–cell cytotoxic activity in NFKB2-mutated CVID-like disease 
Vassilios Lougaris, MD, Giovanna Tabellini, PhD, Massimiliano Vitali, PhD, Manuela Baronio, PhD, Ornella Patrizi, PhD, Giacomo Tampella, PhD, Augusto Biasini, MD, Daniele Moratto, PhD, Silvia Parolini, PhD, Alessandro Plebani, MD, PhD  Journal of Allergy and Clinical Immunology  Volume 135, Issue 6, Pages e3 (June 2015) DOI: /j.jaci Copyright © 2014 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 NFKB2 mutation and NK-cell evaluation. A, Eletropherograms showing the de novo c.2557C>T mutation in NFKB2; the healthy parents resulted wild type for this mutation. B, NK-cell cytotoxicity in vitro activity from the index patient and a healthy donor. Freshly isolated PBMCs derived from healthy donors (□) and from patients (●) incubated overnight in the presence (IL-2 stimulated) or absence (unstimulated) of hr-IL-2 (100 U/mL) at different E/T ratios were tested against the K562 target cell line. The experiments were performed twice. C, Dot plots of CD69 expression on CD56+CD3− gated NK cells from the patient and a representative healthy control. Journal of Allergy and Clinical Immunology  , e3DOI: ( /j.jaci ) Copyright © 2014 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig E1 Flow cytometry analysis was performed on CD56+CD3- gated cells derived from patient (left columns) and from healthy donor (right columns). Activating NK cell receptors (CD16, NKp46, NKP30, NKG2D), maturation markers of CD56dim NK cell population (CD57 and perforin content), HLA class I specific NK cell receptors (NKG2A, KIR molecules), CD56dim and CD56bright NK cell chemokine receptors (CXCR1 and CCR7 respectively) are shown. The slight differences regarding KIRs molecule expression between the index patient and the healthy donor fall within the physiologic variability. Journal of Allergy and Clinical Immunology  , e3DOI: ( /j.jaci ) Copyright © 2014 American Academy of Allergy, Asthma & Immunology Terms and Conditions

4 Fig E1 Flow cytometry analysis was performed on CD56+CD3- gated cells derived from patient (left columns) and from healthy donor (right columns). Activating NK cell receptors (CD16, NKp46, NKP30, NKG2D), maturation markers of CD56dim NK cell population (CD57 and perforin content), HLA class I specific NK cell receptors (NKG2A, KIR molecules), CD56dim and CD56bright NK cell chemokine receptors (CXCR1 and CCR7 respectively) are shown. The slight differences regarding KIRs molecule expression between the index patient and the healthy donor fall within the physiologic variability. Journal of Allergy and Clinical Immunology  , e3DOI: ( /j.jaci ) Copyright © 2014 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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