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A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity  Taco W. Kuijpers, MD, PhD, Paul A. Baars, PhD,

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Presentation on theme: "A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity  Taco W. Kuijpers, MD, PhD, Paul A. Baars, PhD,"— Presentation transcript:

1 A novel mutation in CD132 causes X-CID with defective T-cell activation and impaired humoral reactivity  Taco W. Kuijpers, MD, PhD, Paul A. Baars, PhD, Daan J. aan de Kerk, MD, Machiel H. Jansen, Ingrid A.M. Derks, Robbert G.M. Bredius, MD, PhD, Elisabeth A.M. Sanders, MD, PhD, Mirjam van der Burg, MD, PhD, Marielle Alders, MD, PhD, Rene A.W. van Lier, MD, PhD  Journal of Allergy and Clinical Immunology  Volume 128, Issue 6, Pages e4 (December 2011) DOI: /j.jaci Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 Lymphocyte subpopulations and loss of specific IgG antibodies. A, Absolute numbers of CD4+ and CD8+ T cells as well as NK and B cells in the index case (exemplified by patient 3 in Table E1) were measured by multitest. Dashed lines indicate normal range for the age of the index case. B, Naive T cells (CD45RA+CD27+) within the CD3+CD4+ and CD3+CD8+ lymphocyte populations were determined by using flow cytometry. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig 2 Decreased proliferation to common γ-chain cytokines due to reduced CD132 expression. Carboxyfluorescein diacetate succinimidyl ester (CFSE)-labeled PBMCs of the index patient and a healthy control were stimulated for 6 days with indicated stimuli (A). Numbers indicate percentage of dividing cells of the initial populations. Second numbers indicate the mean number of the divisions of the dividing cells. B, PBMCs of the index patient and a healthy control were stimulated with αCD3/αCD28 mAbs for 3 days and analyzed for CD132, CD122, and CD25 expression by using flow cytometry gated on CD4+CD45RA− T cells (filled histogram, with geomeans of expression). Open histogram: isotype control. C, IL2RG gene transcriptional activity by qPCR (LightCycler) as the mean of 2 experiments on CD45RA+ and CD45RO+ cell fractions within CD3+CD4+ and CD3+CD8+ T cells from unstimulated PBMCs. Contr., Concentration; pat., patient. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions

4 Fig E1 Antigen-specific humoral and cellular activity. A, VZV viral load and anti-VZV IgG over time after a 2nd episode of VZV infection in the index patient. B, Carboxyfluorescein diacetate succinimidyl ester (CFSE)-labeled PBMCs of the index case and a healthy, age-matched control were stimulated for 6 days with indicated recall antigens. IgGs against pneumococcal polysaccharides, diphtheria, and tetanus-toxoid antigens were positive upon vaccination but rapidly disappeared. Antibodies to prior measles-mumps-rubella vaccination and VZV infection were also absent. Numbers indicate the percentage of CFSE low cells within the CD3+CD4+ T cells. Contr., Concentration; pat., patient. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions

5 Fig E2 Dose-response stimulations with common γ-chain cytokines. Carboxyfluorescein diacetate succinimidyl ester (CFSE)-labeled PBMCs of patients 1 and 3, the father of patient 1, and a healthy control were stimulated for 6 days with indicated cytokines in various concentrations. CD3+CD4+ and CD3+CD8+ T cells or CD3−CD56+ NK cells were analyzed. The percentage of dividing cells of the initial populations is depicted. Contr., Concentration; Pat., patient. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions

6 Fig E3 Decreased B-cell proliferation and plasmablast induction in X-CID. Carboxyfluorescein diacetate succinimidyl ester (CFSE)-labeled PBMCs were stimulated for 6 days with IgM with CD40 mAbs in the presence or absence of CD132 cytokine IL-21 and with CD3/CD28 mAbs (A). The index case’s (patient 3, Table E1) CD19+ B cells showed IgM/CD40/IL-21 stimulation- defective plasmablast generation as indicated by lack of CD38 and CD20 up- and downregulation, respectively (B), coinciding with the lack of IL-21–induced IgG production (C). Contr., Concentration; Pat., patient. Journal of Allergy and Clinical Immunology  , e4DOI: ( /j.jaci ) Copyright © 2011 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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