Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency Waleed Al-Herz, MD, Julia I. Chu, MD, Jet.

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Presentation transcript:

Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency Waleed Al-Herz, MD, Julia I. Chu, MD, Jet van der Spek, BSc, Raj Raghupathy, PhD, Michel J. Massaad, PhD, Sevgi Keles, MD, Catherine M. Biggs, MD, Lucinda Cockerton, MSc, Janet Chou, MD, Ghassan Dbaibo, MD, Scott A. Elisofon, MD, Rima Hanna-Wakim, MD, Heung Bae Kim, MD, Leslie E. Lehmann, MD, Douglas R. McDonald, MD, PhD, Luigi D. Notarangelo, MD, Paul Veys, MD, Talal A. Chatila, MD, Raif S. Geha, MD, H. Bobby Gaspar, MD, Sung-Yun Pai, MD Journal of Allergy and Clinical Immunology Volume 138, Issue 3, Pages 852-859.e3 (September 2016) DOI: 10.1016/j.jaci.2016.02.022 Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Immune reconstitution after HSCT for DOCK8 deficiency. A, Persistence of IgE level increase after HSCT. Asterisks mark the first measurement with an IgE level within the normal range for age. B, Naive CD8 cells. C, Switched memory B cells. D, Unswitched memory B cells. Levels shown are before HSCT and at the last follow-up (≥12 months) after HSCT. Open circles indicate that the measured value is abnormal for age, and solid circles indicate that the value is normal. Journal of Allergy and Clinical Immunology 2016 138, 852-859.e3DOI: (10.1016/j.jaci.2016.02.022) Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 DOCK8 expression determined by mean of flow cytometry after HSCT. A, DOCK8 expression in cells from a healthy control and patient P9 after HSCT. B, DOCK8 expression in cells from a healthy control and patient P11 after HSCT. C, DOCK8 expression in CD27+IgD− and CD27+IgD+ cells from patient P11 after HSCT. Shaded histograms indicate isotype control. Numbers represent the percentage of cells that expressed DOCK8. Journal of Allergy and Clinical Immunology 2016 138, 852-859.e3DOI: (10.1016/j.jaci.2016.02.022) Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 3 Cytokine production in response to PHA before and after HSCT in 5 patients with DOCK8 deficiency and healthy adult control subjects. A, IFN-γ. B, TNF-α. C, IL-2. D, IL-4. Journal of Allergy and Clinical Immunology 2016 138, 852-859.e3DOI: (10.1016/j.jaci.2016.02.022) Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E1 DOCK8 expression determined by using flow cytometry in peripheral blood cells. A, Control subject and patient P4 before HSCT. B, Control subject and patients P7 (after rituximab) before HSCT. Shaded histograms indicate isotype control. Journal of Allergy and Clinical Immunology 2016 138, 852-859.e3DOI: (10.1016/j.jaci.2016.02.022) Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions