Early and late B-cell developmental impairment in nuclear factor kappa B, subunit 1– mutated common variable immunodeficiency disease Vassilios Lougaris,

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Presentation transcript:

Early and late B-cell developmental impairment in nuclear factor kappa B, subunit 1– mutated common variable immunodeficiency disease Vassilios Lougaris, MD, Daniele Moratto, PhD, Manuela Baronio, PhD, Giacomo Tampella, PhD, Jos W.M. van der Meer, MD, Raffaele Badolato, MD, PhD, Manfred Fliegauf, PhD, Alessandro Plebani, MD, PhD Journal of Allergy and Clinical Immunology Volume 139, Issue 1, Pages 349-352.e1 (January 2017) DOI: 10.1016/j.jaci.2016.05.045 Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 NF-kB1 mutations and human B-cell development. A, Electropherogram showing the novel monoallelic mutation in NFKB1 from the index patient 1. B, Flow cytometric evaluation of early B-cell development in the bone marrow from an age-matched healthy donor (HD; green) and the NFKB1-mutated patient (Pt 1; red). The left plot shows the cell subsets upon gating on the lymphocyte subset CD34+CD45+ (small upper left plot), whereas the right dot plot shows the cell subsets upon gating on the CD19+CD45+ B-cell subset (small upper right plot). C, Flow cytometric evaluation of peripheral CD19+ B cells from an HD (green) and patients 1 (Pt 1; red), 2 (Pt 2; purple), and 3 (Pt 3; blue). Imm., Immature; trans., transitional. Journal of Allergy and Clinical Immunology 2017 139, 349-352.e1DOI: (10.1016/j.jaci.2016.05.045) Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig E1 Bone marrow evaluation of B-cell development was done by multicolor flow cytometry in the NF-kB1–mutated patient and 6 age-matched healthy controls. A, Bar graph showing the distribution of the different B-cell subsets during bone marrow B-cell development. B, Detailed percentage description of the different B-cell subsets in the bone marrow comparing the NF-kB1–mutated patient and 6 age-matched healthy controls. Imm, Immature; Pt. 1, patient 1. Journal of Allergy and Clinical Immunology 2017 139, 349-352.e1DOI: (10.1016/j.jaci.2016.05.045) Copyright © 2016 American Academy of Allergy, Asthma & Immunology Terms and Conditions